Cited by 1,000Neuroendocrine Tumor Research AdvancesPancreatic and Hepatic Oncology ResearchCancer Genomics and Diagnostics

The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.

Whole-genome landscape of pancreatic neuroendocrine tumours

Australian Pancreatic Cancer Genome Initiative, Scarpa, Aldo, Chang, David K., Nones, Katia, Corbo, Vincenzo, Patch, Ann-Marie, Bailey, Peter, Lawlor, Rita T., Johns, Amber L., Miller, David K., Mafficini, Andrea, Rusev, Borislav, Scardoni, Maria, Antonello, Davide, Barbi, Stefano, Sikora, Katarzyna O., Cingarlini, Sara, Vicentini, Caterina, McKay, Skye, Quinn, Michael C. J., Bruxner, Timothy J. C., Christ, Angelika N., Harliwong, Ivon, Idrisoglu, Senel, McLean, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Wilson, Peter J., Anderson, Matthew J., Fink, J. Lynn, Newell, Felicity, Waddell, Nick, Holmes, Oliver, Kazakoff, Stephen H., Leonard, Conrad, Wood, Scott, Xu, Qinying, Nagaraj, Shivashankar Hiriyur, Amato, Eliana, Dalai, Irene, Bersani, Samantha, Cataldo, Ivana, Dei Tos, Angelo P., Capelli, Paola, Davì, Maria Vittoria, Landoni, Luca, Malpaga, Anna, Miotto, Marco, Whitehall, Vicki L. J., Leggett, Barbara A., Harris, Janelle L., Harris, Jonathan, Jones, Marc D., Humphris, Jeremy, Chantrill, Lorraine A., Chin, Venessa, Nagrial, Adnan M., Pajic, Marina, Scarlett, Christopher J., Pinho, Andreia, Rooman, Ilse, Toon, Christopher, Wu, Jianmin, Pinese, Mark, Cowley, Mark, Barbour, Andrew, Mawson, Amanda, Humphrey, Emily S., Colvin, Emily K., Chou, Angela, Lovell, Jessica A., Jamieson, Nigel B., Duthie, Fraser, Gingras, Marie-Claude, Fisher, William E., Dagg, Rebecca A., Lau, Loretta M. S., Lee, Michael, Pickett, Hilda A., Reddel, Roger R., Samra, Jaswinder S., Kench, James G., Merrett, Neil D., Epari, Krishna, Nguyen, Nam Q., Zeps, Nikolajs, Falconi, Massimo, Simbolo, Michele, Butturini, Giovanni, Van Buren, George, Partelli, Stefano, Fassan, Matteo, Khanna, Kum Kum, Gill, Anthony J., Wheeler, David A., Gibbs, Richard A., Musgrove, Elizabeth A., Bassi, Claudio, Tortora, Giampaolo, Pederzoli, Paolo, Pearson, John V., Waddell, Nicola, Biankin, Andrew V., Grimmond, Sean M.·2017·Nature

DOI 10.1038/nature21063

Open this paper in CoChat — free account

Abstract

The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.

Integrity signals

Registry

Crossref · 10.1038/nature21063

Cites

62 of 62 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Self-citation
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Gerlinger, M., Rowan, A. J., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1113205 · Cited by 7,774
voom: precision weights unlock linear model analysis tools for RNA-seq read counts
Law, C. W., Chen, Y., Shi, W., & Smyth, G. K. (2014) · Genome Biology · doi:10.1186/gb-2014-15-2-r29 · Cited by 6,155
ConsensusClusterPlus: a class discovery tool with confidence assessments and item tracking
Wilkerson, M. D., & Hayes, D. N. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq170 · Cited by 5,645
Genomic analyses identify molecular subtypes of pancreatic cancer
Bailey, P., Chang, D. K., Nones, K., Johns, A. L., Patch, A.-M., Gingras, M.-C., Miller, D. K., Christ, A. N., Bruxner, T. J. C., Quinn, M. C., et al. (2016) · Nature · doi:10.1038/nature16965 · Cited by 3,621
Self-citation
GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers
Mermel, C. H., Schumacher, S. E., Hill, B., Meyerson, M. M., Beroukhim, R., & Getz, G. A. (2011) · Genome biology · doi:10.1186/gb-2011-12-4-r41 · Cited by 3,520
Discovery and saturation analysis of cancer genes across 21 tumour types
Lawrence, M. S., Stojanov, P., Mermel, C. H., Robinson, J. T., Garraway, L. A., Golub, T. R., Meyerson, M., Gabriel, S. B., Lander, E. S., & Getz, G. (2014) · Nature · doi:10.1038/nature12912 · Cited by 3,096
ClinVar: public archive of interpretations of clinically relevant variants
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758
Whole genomes redefine the mutational landscape of pancreatic cancer
Initiative, A. P. C. G., Waddell, N., Pajic, M., Patch, A.-M., Chang, D. K., Kassahn, K. S., Bailey, P., Johns, A. L., Miller, D., Nones, K., et al. (2015) · Nature · doi:10.1038/nature14169 · Cited by 2,642
Self-citation
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414

Flagged first, then by citations

Show all 62 references

Sorted by citations

Items 301–400 of 1,000

New insights in diagnosis and treatment of gastroenteropancreatic neuroendocrine neoplasms
Yin, F., Wu, Z.-H., & Lai, J. (2022) · World Journal of Gastroenterology · doi:10.3748/wjg.v28.i17.1751 · Cited by 22
Spatiotemporal heterogeneity and clinical challenge of pancreatic neuroendocrine tumors
Lou, X., Qin, Y., Xu, X., Yu, X., & Ji, S. (2022) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2022.188782 · Cited by 23
Potent molecular-targeted therapies for gastro-entero-pancreatic neuroendocrine carcinoma
Ooki, A., Osumi, H., Fukuda, K., & Yamaguchi, K. (2023) · Cancer and Metastasis Reviews · doi:10.1007/s10555-023-10121-2 · Cited by 24
“…at telomeres and other genomic sites [99], and the multiple endocrine neoplasia type 1 (MEN1) interacts with DNA damage repair, chromatin remodeling, telomere alteration, and the phos-phatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/mechanistic target of rapamycin kinase (mTOR) pathway [67].”
Background
Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors
Paller, C. J., Tukachinsky, H., Maertens, A., Decker, B. J., Sampson, J. R., Cheadle, J. P., & Antonarakis, E. S. (2024) · JCO Precision Oncology · doi:10.1200/po.23.00251 · Cited by 22
DAXX Mutation Status of Embolization-Treated Neuroendocrine Tumors Predicts Shorter Time to Hepatic Progression
Ziv, E., Rice, S. L., Filtes, J., Yarmohammadi, H., Boas, F. E., Erinjeri, J. P., Petre, E. N., Brody, L. A., Brown, K. T., Covey, A. M., et al. (2018) · Journal of Vascular and Interventional Radiology · doi:10.1016/j.jvir.2018.05.023 · Cited by 22
The size of well differentiated pancreatic neuroendocrine tumors correlates with Ki67 proliferative index and is not associated with age
Partelli, S., Muffatti, F., Rancoita, P. M. V., Andreasi, V., Balzano, G., Crippa, S., Doglioni, C., Rubini, C., Zamboni, G., & Falconi, M. (2019) · Digestive and Liver Disease · doi:10.1016/j.dld.2019.01.008 · Cited by 22
Self-citation
Critical appraisal of MGMT in digestive NET treated with alkylating agents
de Mestier, L., Couvelard, A., Blažević, A., Hentic, O., de Herder, W. W., Rebours, V., Paradis, V., Ruszniewski, P. B., Hofland, L. J., & Cros, J. F. (2020) · Endocrine Related Cancer · doi:10.1530/erc-20-0227 · Cited by 22
Biomarkers to Inform Prognosis and Treatment for Unresectable or Metastatic GEP-NENs
Loree, J. M., Chan, D. L. H., Lim, J. W. Y., Stuart, H., Fidelman, N., Koea, J., Posavad, J., Cummins, M., Doucette, S., Myrehaug, S. D., et al. (2024) · JAMA Oncology · doi:10.1001/jamaoncol.2024.4330 · Cited by 21
Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis
Tacelli, M., Gentiluomo, M., Biamonte, P., Castano, J. P., Berković, M. C., Cives, M., Kapitanović, S., Marinoni, I., Marinović, S., Nikas, I. P., et al. (2025) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2025.03.005 · Cited by 23
Telomere length alterations and ATRX/DAXX loss in pituitary adenomas
Heaphy, C. M., Bi, W. L., Coy, S., Davis, C., Gallia, G. L., Santagata, S., & Rodríguez, F. J. (2020) · Modern Pathology · doi:10.1038/s41379-020-0523-2 · Cited by 23
Morphologic and Molecular Heterogeneity of Cervical Neuroendocrine Neoplasia
Ordulu, Z., Mino-Kenudson, M. A., Young, R. H., de Vijver, K. K. V., Zannoni, G. F., Félix, A., Burandt, E., Wong, A., Nardi, V., & Oliva, E. (2022) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001943 · Cited by 21
Renal neuroendocrine tumors: clinical and molecular pathology with an emphasis on frequent association with ectopic Cushing syndrome
Kasajima, A., Pfarr, N., von Werder, A., Schwamborn, K., Gschwend, J. E., Din, N. U., Esposito, I., Weichert, W., Pavel, M., Agaimy, A., et al. (2023) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-023-03596-5 · Cited by 21
DEPDC5 deficiency contributes to resistance to leucine starvation via p62 accumulation in hepatocellular carcinoma
Mizuno, Y., Shimada, S., Akiyama, Y., Watanabe, S., Aida, T., Ogawa, K., Ono, H., Mitsunori, Y., Ban, D., Kudo, A., et al. (2018) · Scientific Reports · doi:10.1038/s41598-017-18323-9 · Cited by 22
Epigenetic regulation in the tumorigenesis of MEN1-associated endocrine cell types
Iyer, S., & Agarwal, S. K. (2018) · Journal of Molecular Endocrinology · doi:10.1530/jme-18-0050 · Cited by 21
Clinical role of fludeoxyglucose (18F) positron emission tomography/computed tomography (18F-FDG PET/CT) in patients with pancreatic neuroendocrine tumors
Matsumoto, T., Okabe, H., Yamashita, Y., Yusa, T., Itoyama, R., Nakao, Y., Yamao, T., Umzaki, N., Tsukamoto, M., Kitano, Y., et al. (2018) · Surgery Today · doi:10.1007/s00595-018-1703-2 · Cited by 21
Molecular prognostic factors in small-intestinal neuroendocrine tumours
Samsom, K. G., van Veenendaal, L. M., Valk, G. D., Vriens, M. R., Tesselaar, M. E. T., & van den Berg, J. G. (2019) · Endocrine Connections · doi:10.1530/ec-19-0206 · Cited by 21
Men1 maintains exocrine pancreas homeostasis in response to inflammation and oncogenic stress
Wasylishen, A. R., Sun, C., Chau, G. P., Qi, Y., Su, X., Kim, M. P., Estrella, J. S., & Lozano, G. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1920017117 · Cited by 21
Aberration of ARID1A Is Associated With the Tumorigenesis and Prognosis of Sporadic Nonfunctional Pancreatic Neuroendocrine Tumors
Han, X., Chen, W., Chen, P., Zhou, W., Rong, Y., Lv, Y., Li, J., Ji, Y., Chen, W., Lou, W., et al. (2020) · Pancreas · doi:10.1097/mpa.0000000000001535 · Cited by 21
“Recently, sporadic pNETs have been genetically characterized with whole-exome and whole-genome sequencing in relatively large cohorts of 40 to 102 patients.(16,17,27) Scarpa and colleagues(17) found that somatic mutations were most”
Background
Evidence of a common cell origin in a case of pancreatic mixed intraductal papillary mucinous neoplasm–neuroendocrine tumor
Lena, M. S., Cangi, M. G., Pecciarini, L., Francaviglia, I., Grassini, G., Maire, R., Partelli, S., Falconi, M., Perren, A. A., & Doglioni, C. (2020) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-020-02942-1 · Cited by 21
Self-citation
Models in Pancreatic Neuroendocrine Neoplasms: Current Perspectives and Future Directions
Forsythe, S. D., Pu, T., Andrews, S. G., Madigan, J. P., & Sadowski, S. M. (2023) · Cancers · doi:10.3390/cancers15153756 · Cited by 23
Tumor suppressor functions of DAXX through histone H3.3/H3K9me3 pathway in pancreatic NETs
Ueda, H. R., Akiyama, Y., Shimada, S., Mogushi, K., Serizawa, M., Matsumura, S., Mitsunori, Y., Aihara, A., Ban, D., Ochiai, T., et al. (2018) · Endocrine Related Cancer · doi:10.1530/erc-17-0328 · Cited by 21
The Integrated Stress Response in Pancreatic Development, Tissue Homeostasis, and Cancer
Malnassy, G., Ziolkowski, L. M., Macleod, K. F., & Oakes, S. A. (2024) · Gastroenterology · doi:10.1053/j.gastro.2024.05.009 · Cited by 22
Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs)
Perez, K. J., Kulke, M. H., Chittenden, A. B., Ukaegbu, C. I., Astone, K., Alexander, H., Brais, L. K., Zhang, J., Garcia, J., Esplin, E. D., et al. (2021) · JCO Precision Oncology · doi:10.1200/po.21.00047 · Cited by 20
“In the Invitae cohort, there were 120 individuals who underwent testing between 2010 and 2019 who carried a diagnosis of SI-NET.”
BackgroundInfluential
Liquid biopsy and preclinical tools for advancing diagnosis and treatment of patients with pancreatic neuroendocrine neoplasms
Smolková, B., Kataki, A., Earl, J., Ruz‐Caracuel, I., Cihova, M., Urbanova, M., Buociková, V., Tamargo, S., Rovīte, V., Niedra, H., et al. (2022) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2022.103865 · Cited by 21
Identification of matrix-remodeling associated 5 as a possible molecular oncotarget of pancreatic cancer
Peng, S.-Q., Zhu, X., Zhao, M.-Z., Zhang, Y., Wang, A.-R., Chen, M., & Ye, Z.-Y. (2023) · Cell Death and Disease · doi:10.1038/s41419-023-05684-5 · Cited by 19
“A significant percentage of pancreatic cancers have increased PI3K/Akt cascade activation [60, 65, 66].”
Background
Epigenetic control of pancreatic cancer metastasis
Krauß, L., Schneider, C., Heßmann, E., Saur, D., & Schneider, G. (2023) · Cancer and Metastasis Reviews · doi:10.1007/s10555-023-10132-z · Cited by 20
“In PanNETs, nearly 40% of patients harbor MEN1 mutations and it is the most commonly mutated gene [62, 63].”
Background
Current understanding of pathogenetic mechanisms in neuroendocrine neoplasms
Modica, R., Liccardi, A., Minotta, R., Cannavale, G., Benevento, E., & Colao, A. A. L. (2023) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2023.2279540 · Cited by 20
“Probably, NETs and NECs present different pathogenetic pathways and originate from different precursor cells, but because of the rarity of these malignancies a clear pathway has not been elucidated [98,99].”
Background
ARX, PDX1, ISL1, and CDX2 Expression Distinguishes 5 Subgroups of Pancreatic Neuroendocrine Tumors With Correlations to Histology, Hormone Expression, and Outcome
Moser, E., Ura, A., Vogel, L., Steiger, K., Mogler, C., Evert, M., Märkl, B., Scheidhauer, K., Martignoni, M. E., Frieß, H., et al. (2024) · Modern Pathology · doi:10.1016/j.modpat.2024.100595 · Cited by 20
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high‐grade transformation
Backman, S., Botling, J., Nord, H., Ghosal, S., Stalberg, P. L. H., Juhlin, C. C., Almlöf, J. C., Sundin, A., Zhang, L., Moens, L., et al. (2024) · The Journal of Pathology · doi:10.1002/path.6348 · Cited by 22
“…could be attributed to a mutation signature resembling SBS11, which has been attributed to treatment with alkylating agents (Figure 4A Therapy driven route to high-grade transformation in PanNET 363 showing SBS 1 (aetiology: cell division), 5 (unknown aetiology), and 8 (unknown aetiology) [8,29].”
Influential
Role of the tumor microenvironment in digestive neuroendocrine tumors
Cuny, T., de Herder, W. W., Barlier, A., & Hofland, L. J. (2018) · Endocrine Related Cancer · doi:10.1530/erc-18-0025 · Cited by 20
Pancreatic Neuroendocrine Neoplasms: Landscape and Horizon
Tang, L. H. (2020) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2019-0654-ra · Cited by 20
“In addition to the hereditary syndromes discussed earlier, which account for less than 10% of PanNETs, germline mutations in DNA damage repair genes, such as CHEK2 and MUTYH, have been identified in 17% of sporadic cases without apparent familial background.(35) In early investigations, cytogenetic and molecular genet…”
Background
Clinical Prognosticators of Metastatic Potential in Patients with Small Pancreatic Neuroendocrine Tumors
Vega, E. A., Kutlu, O. C., Alarcon, S. V., Salehi, O., Kazakova, V., Kozyreva, O. N., Chan, J. A., & Conrad, C. H. (2021) · Journal of Gastrointestinal Surgery · doi:10.1007/s11605-021-04946-x · Cited by 20
Comprehensive Plasma Metabolomic Profile of Patients with Advanced Neuroendocrine Tumors (NETs). Diagnostic and Biological Relevance
Soldevilla, B., López-López, Á., Lens‐Pardo, A., Carretero-Puche, C., López‐Gonzálvez, Á., Salvia, A. L., Gil-Calderón, B., Martínez, M. C. R., Espinosa-Olarte, P., Sarmentero, J., et al. (2021) · Cancers · doi:10.3390/cancers13112634 · Cited by 21
Context matters – Daxx and Atrx are not robust tumor suppressors in the murine endocrine pancreas
Sun, C., Estrella, J. S., Whitley, E. M., Chau, G. P., Lozano, G., & Wasylishen, A. R. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049552 · Cited by 21
“PanNETs exhibit recurrent mutations and copy number losses in PTEN as well as TSC1/2 , leading to activation of PI3K and mTOR signaling (Scarpa et al., 2017; Jiao et al., 2011).”
Genome analysis identifies differences in the transcriptional targets of duodenal versus pancreatic neuroendocrine tumours
Rico, K., Duan, S., Pandey, R., Chen, Y., Chakrabarti, J. T., Starr, J., Zavros, Y. L., Else, T., Katona, B. W., Metz, D. C., et al. (2021) · BMJ Open Gastroenterology · doi:10.1136/bmjgast-2021-000765 · Cited by 19
“48 Genetically engineered models (GEMMs) have provided a framework based on developmental paradigms for endocrine cells, 49 while profiling of clonal human cell lines has generated lists of genetic targets to consider as novel therapeutic targets and biomarkers.”
Biomarker Landscape in Neuroendocrine Tumors With High-Grade Features: Current Knowledge and Future Perspective
Prisciandaro, M., Antista, M., Raimondi, A., Corti, F., Morano, F., Centonze, G., Sabella, G., Mangogna, A., Randon, G., Pagani, F., et al. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.780716 · Cited by 20
Signaling Pathways Involved in 5-FU Drug Resistance in Cancer
Pouya, F. D., Rasmi, Y., & Nemati, M. (2022) · Cancer Investigation · doi:10.1080/07357907.2022.2055050 · Cited by 21
“Analyses performed on tumor tissues have shown that mutations in the MEN1 gene are effective up to 35% in the development of pulmonary tumors (156–158) and 37% in the pNET (159).”
Background
Biology-guided precision medicine in rare cancers: Lessons from sarcomas and neuroendocrine tumours
van der Graaf, W. T. A., Tesselaar, M. E. T., McVeigh, T. P., Oyen, W. J. G., & Fröhling, S. (2022) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2022.05.011 · Cited by 20
Pancreatic Neuroendocrine Tumors: Signaling Pathways and Epigenetic Regulation
Saleh, Z., Moccia, M. C., Ladd, Z., Joneja, U., Li, Y., Spitz, F. J., Hong, Y. K., & Gao, T. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25021331 · Cited by 18
“Conversely, patients with highly differentiated nonfunctional PNETs more commonly show genetic alterations, including ATRX, DAXX, and MEN1 [4–8].”
Background
Not only stem cells, but also mature cells, particularly neuroendocrine cells, may develop into tumours: time for a paradigm shift
Waldum, H. L., Öberg, K., Sørdal, Ø. F., Sandvik, A. K., Gustafsson, B. I., Mjønes, P., & Fossmark, R. (2018) · Therapeutic Advances in Gastroenterology · doi:10.1177/1756284818775054 · Cited by 19
Curative Surgery and Ki-67 Value Rather Than Tumor Differentiation Predict the Survival of Patients With High-grade Neuroendocrine Neoplasms
Asano, D., Kudo, A., Akahoshi, K., Maekawa, A., Murase, Y., Ogawa, K., Ono, H., Ban, D., Tanaka, S., & Tanabe, M. (2020) · Annals of Surgery · doi:10.1097/sla.0000000000004495 · Cited by 19
“Genotypes for well-differentiated PNENs may usually include mutations of death domain-associated protein (DAXX), alpha thalassemia/mental retardation syndrome X-linked (ATRX), and menin (MEN1), while poorly differentiated PNEC may show genetic characters similar to those of pancreatic adenocarcinoma, including mutatio…”
Background
LAT-1 and GLUT-1 Carrier Expression and Its Prognostic Value in Gastroenteropancreatic Neuroendocrine Tumors
Sampedro-Nuñez, M. A., Bouthelier, A., Serrano-Somavilla, A., Martínez‐Hernández, R., Adrados, M., Martín‐Pérez, E., de Nova, J. L. M., Cameselle‐Teijeiro, J., Blanco-Carrera, C., Cabezas-Agrícola, J. M., et al. (2020) · Cancers · doi:10.3390/cancers12102968 · Cited by 19
Common genetic variants associated with pancreatic adenocarcinoma may also modify risk of pancreatic neuroendocrine neoplasms
Obazee, O. M., Capurso, G., Tavano, F., Archibugi, L., Bonis, A. D., Greenhalf, W., Key, T. J., Pasquali, C., Milanetto, A. C., Hackert, T., et al. (2017) · Carcinogenesis · doi:10.1093/carcin/bgx150 · Cited by 18
Self-citation
Feline combined diaphyseal radial and ulnar fractures
de la Puerta, B., Trayhorn, D., Moores, A. P., Langley-Hobbs, S. J., & Wallace, A. M. (2008) · Veterinary and Comparative Orthopaedics and Traumatology · doi:10.3415/vcot-08-02-0012 · Cited by 19
Immunohistochemically Detected Expression of ATRX, TSC2, and PTEN Predicts Clinical Outcomes in Patients With Grade 1 and 2 Pancreatic Neuroendocrine Tumors
Uemura, J., Okano, K., Oshima, M., Suto, H., Ando, Y., Kumamoto, K., Kadota, K., Ichihara, S., Kokudo, Y., Maeba, T., et al. (2019) · Annals of Surgery · doi:10.1097/sla.0000000000003624 · Cited by 18
“Mutually exclusive somatic inactivating mutations in either the DAXX or ATRX genes have been reported to be present in as much as 33% to 43% of PNETs in case series.(13,14) Loss of function in these proteins leads to telomere dysfunction and results in impaired nonhomologous end joining, alternate lengthening of telom…”
Background
Neuroendocrine tumours of the breast: a genomic comparison with mucinous breast cancers and neuroendocrine tumours of other anatomic sites
Pareja, F. G., Vahdatinia, M., Marchiò, C., Lee, S., Paula, A. D. C., Derakhshan, F. N., da Silva, E. M., Selenica, P., Dopeso, H., Chandarlapaty, S., et al. (2020) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2020-207052 · Cited by 18
Cross-talk among MEN1, p53 and Notch regulates the proliferation of pancreatic neuroendocrine tumor cells by modulating INSM1 expression and subcellular localization
Capodanno, Y., Chen, Y., Schrader, J., Tomosugi, M., Sumi, S., Yokoyama, A., Hiraoka, N., & Ohki, R. (2021) · Neoplasia · doi:10.1016/j.neo.2021.07.008 · Cited by 18
Clinical implications of cell‐of‐origin epigenetic characteristics in non‐functional pancreatic neuroendocrine tumors
Dreijerink, K. M. A., Hackeng, W. M., Singhi, A. D., Heaphy, C. M., & Brosens, L. A. A. (2021) · The Journal of Pathology · doi:10.1002/path.5834 · Cited by 19
“These findings were later confirmed and expanded using whole-genome sequencing [11].”
Background
Development and Validation of a Novel Radiomics-Based Nomogram With Machine Learning to Preoperatively Predict Histologic Grade in Pancreatic Neuroendocrine Tumors
Wang, X., Qiu, J.-J., Tan, C., Chen, Y., Tan, Q., Ren, S., Yang, F., Yao, W.-Q., Cao, D., Ke, N., et al. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.843376 · Cited by 18
Neuroendocrine Tumors: Genomics and Molecular Biomarkers with a Focus on Metastatic Disease
Alexander, E. S., & Ziv, E. (2023) · Cancers · doi:10.3390/cancers15082249 · Cited by 18
“They also discovered that sporadic PNETs had a larger proportion of germline mutations [24].”
Background
Transformation of G1-G2 neuroendocrine tumors to neuroendocrine carcinomas following peptide receptor radionuclide therapy
Cordero-Hernandez, I., Ross, A. C., Dasari, A. N., Halperin, D. M., Chasen, B. A., & Yao, J. C. (2024) · Endocrine Related Cancer · doi:10.1530/erc-23-0203 · Cited by 18
Comprehensive genomic and transcriptomic characterization of high-grade gastro-entero-pancreatic neoplasms
Angerilli, V., Sabella, G., Simbolo, M., Lagano, V., Centonze, G., Gentili, M., Mangogna, A., Coppa, J. C., Munari, G., Businello, G., et al. (2024) · British Journal of Cancer · doi:10.1038/s41416-024-02705-8 · Cited by 18
Self-citation
Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors
Papadopoulou‐Marketou, N., Tsoli, M., Chatzellis, E., Alexandraki, K., & Kaltsas, G. (2024) · Cancers · doi:10.3390/cancers16112075 · Cited by 22
“The vast majority of PanNETs are sporadic, but approximately 17% are associated with an inherited syndrome, the most common being Multiple Endocrine Neoplasia type 1 (MEN1), von Hippel–Lindau (VHL) syndromes, Neurofibromatosis type 1 (NF1), and Tuberous Sclerosis Complex (TSC) [2,3].”
Background
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas
Atiq, M. A., Balan, J., Blackburn, P. R., Gross, J. M., Voss, J. S., Jin, L. G., Fadra, N., Davila, J. I., Pitel, B. A., Terra, S. B. S. P., et al. (2024) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2024.10.004 · Cited by 18
Extra-osseous Ewing sarcoma of the pancreas: case report with radiologic, pathologic, and molecular correlation, and brief review of the literature
Komforti, M. K., Sokolovskaya, E., D’Agostino, C. A., Benayed, R., & Thomas, R. M. (2018) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-018-2344-y · Cited by 18
“described 4 tumors containing EWSR1-FLI1 fusions [36].”
Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway
Szybowska, M., Mete, Ö., Weber, E., Silver, J., & Kim, R. H. (2019) · Endocrine Pathology · doi:10.1007/s12022-019-9569-4 · Cited by 19
What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?
Challis, B., Casey, R. T., Grossman, A. B., Newell-Price, J. D. C., Newey, P. J., & Thakker, R. V. (2019) · Clinical Endocrinology · doi:10.1111/cen.14094 · Cited by 18
Translational challenges in pancreatic neuroendocrine tumor immunotherapy
Egal, É. S. A., Jacenik, D., Soares, H. P., & Beswick, E. J. (2021) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2021.188640 · Cited by 19
Glucagonoma With Necrolytic Migratory Erythema: Metabolic Profile and Detection of Biallelic Inactivation of DAXX Gene
Tamura, A., Ogasawara, T., Fujii, Y. R., Kaneko, H., Nakayama, A., Higuchi, S., Hashimoto, N., Miyabayashi, Y., Fujimoto, M., Komai, E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-02646 · Cited by 18
The molecular biology of pancreatic neuroendocrine neoplasms: Challenges and translational opportunities
Young, K., Starling, N., & Sadanandam, A. (2019) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2019.09.024 · Cited by 18
Treatment Response and Clinical Outcomes of Well-Differentiated High-Grade Neuroendocrine Tumors to Lutetium-177-DOTATATE
Raj, N. P., Coffman, K., Le, T., Gian, R. K., Rafailov, J., Choi, Y. R., Chou, J. F., Capanu, M., Dunphy, M. P., Fox, J. J., et al. (2022) · Neuroendocrinology · doi:10.1159/000525216 · Cited by 17
A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms
Palsgrove, D. N., Manucha, V., Park, J. Y., & Bishop, J. A. (2023) · Head and Neck Pathology · doi:10.1007/s12105-023-01527-z · Cited by 17
Long-term organoid culture of a small intestinal neuroendocrine tumor
D’Agosto, S. L., Fiorini, E., Pezzini, F., Delfino, P., Simbolo, M., Vicentini, C., Andreani, S., Capelli, P., Rusev, B. C., Lawlor, R. T., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.999792 · Cited by 18
Self-citation
DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks
Pinto, L., Pailas, A., Bondarchenko, M., Sharma, A. B., Neumann, K., Rizzo, A. J., Jeanty, C., Nicot, N., Racca, C., Graham, M. K., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad1141 · Cited by 18
“…to generalize our findings and considering the clinical relevance of DAXX and ATRX defects in human pancreatic neuroendocrine tumors (PanNETs) ( 67 ,68 ), we next examined centromeric DSB accumulation in the panNET cell line BON-1, as well as in ATRX-KO and DAXX-KO derivatives thereof, which we…”
Background
MEN1 Deficiency‐Driven Activation of the β‐Catenin‐MGMT Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers Temozolomide Resistance
Xu, J., Lou, X., Wang, F., Zhang, W., Xu, X., Ye, Z., Zhuo, Q., Wang, Y., Jing, D., Fan, G., et al. (2024) · Advanced Science · doi:10.1002/advs.202308417 · Cited by 17
Single-cell sequencing reveals the heterogeneity of pancreatic neuroendocrine tumors under genomic instability and histological grading
Zeng, Y., Zhou, Y., Hu, Y., Li, Q., Xu, Z., Lou, X., Zhang, W., Zhu, D., Xie, C., Zhou, Q., et al. (2024) · iScience · doi:10.1016/j.isci.2024.110836 · Cited by 17
“11 However,inNF-Pan-NET,thepatientswithCNValterationtendedtohavehigherTMBandworseprognosis, 10,12 suggesting thatthereisgreatheterogeneityinthepathogenesisofPan-NET.”
Influential
Menin in Cancer
Majer, A. D., Hua, X., & Katona, B. W. (2024) · Genes · doi:10.3390/genes15091231 · Cited by 17
“Loss of menin function in pNETs and cell lines is associated with dysregulation of genes involved in DNA replication, DNA recombination, DNA repair, and telomere maintenance [35,36].”
Background
Carbonic anhydrase 9 expression in well-differentiated pancreatic neuroendocrine neoplasms might be associated with aggressive behavior and poor survival
Kim, J. Y., Lee, S. H., An, S., Kim, S. J., Sung, Y., Song, K. B., Hwang, D. W., Kim, S. C., & Hong, S. (2018) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-018-2353-x · Cited by 20
Costs of Cancer Care for Elderly Patients with Neuroendocrine Tumors
Shen, C., Dasari, A. N., Gu, D., Chu, Y., Zhou, S., Xu, Y., Halperin, D. M., Fu, S., Yao, J. C., & Shih, Y. T. (2018) · PharmacoEconomics · doi:10.1007/s40273-018-0656-z · Cited by 17
Open issues on G3 neuroendocrine neoplasms: back to the future
Zatelli, M. C., Guadagno, E., Messina, E., Calzo, F. L., Faggiano, A., Colao, A., & _, _. (2018) · Endocrine Related Cancer · doi:10.1530/erc-17-0507 · Cited by 17
Targeting Defects in the Cellular DNA Damage Response for the Treatment of Pancreatic Ductal Adenocarcinoma
Schmitt, A., Feldmann, G., Zander, T., & Reinhardt, H. C. (2018) · Oncology Research and Treatment · doi:10.1159/000493401 · Cited by 18
Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes
Larouche, V., Akirov, A., Thain, E., Kim, R. H., & Ezzat, S. (2019) · Endocrinology Diabetes & Metabolism · doi:10.1002/edm2.92 · Cited by 17
Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor
Quevedo, R., Spreafico, A., Bruce, J. P., Danesh, A., Ghamrasni, S. E., Giesler, A., Hanna, Y., Have, C. L., Li, T., Yang, S. Y. C., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00730-9 · Cited by 17
Rb and p53 Execute Distinct Roles in the Development of Pancreatic Neuroendocrine Tumors
Yamauchi, Y., Kodama, Y., Shiokawa, M., Kakiuchi, N., Marui, S., Kuwada, T., Sogabe, Y., Tomono, T., Mima, A., Morita, T., et al. (2020) · Cancer Research · doi:10.1158/0008-5472.can-19-2232 · Cited by 17
Risk factors for pancreas and lung neuroendocrine neoplasms: a case–control study
Giraldi, L., Vecchioni, A., Carioli, G., Bilotta, M., Rosa, S. L., Imperatori, A. S., Volante, M., Brizzi, M. P., Inzani, F. S., Petrone, G., et al. (2020) · Endocrine · doi:10.1007/s12020-020-02464-5 · Cited by 17
Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma
Tan, D. J., Mitra, M., Chiu, A. M., & Coller, H. A. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00159-4 · Cited by 17
Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice
Fuentes, M. E., Lu, X., Flores, N. M., Hausmann, S., & Mazur, P. K. (2024) · Scientific Reports · doi:10.1038/s41598-024-58874-2 · Cited by 17
“Additional mutations found commonly in human PanNETs target mTOR pathway genes, including PTEN, TSC2, and PIK3CA 14,33 .”
Background
Orthotopic Pancreatic Tumor Mouse Models of Liver Metastasis
Zhang, G., & Du, Y. N. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-8879-2_27 · Cited by 17
Histopathologic and genetic distinction of well-differentiated grade 3 neuroendocrine tumor versus poorly-differentiated neuroendocrine carcinoma in high-grade neuroendocrine neoplasms
Sun, B. L., Ding, H., & Sun, X. (2025) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqaf013 · Cited by 17
Perspectives on the diagnostic, predictive and prognostic markers of neuroendocrine neoplasms (Review)
Ciobanu, O., Martin, S. C., & Fica, S. V. (2021) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2021.10914 · Cited by 18
“In total, up to 40% of well‐differentiated NENs in the pancreas exhibit somatic mutations in the DAXX and ATRX genes (82).”
BackgroundResult
MEN1 promotes ferroptosis by inhibiting mTOR-SCD1 axis in pancreatic neuroendocrine tumors
Zeng, Y., Chen, H., Ji, S., Hu, Y., Lou, X., Zhang, W., Jing, D., Fan, G., Zhang, Y., Chen, X., et al. (2022) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2022162 · Cited by 17
“MEN1 mutations are the major driving factor in the occurrence and development of pNETs, because more than 40% of sporadic pNETs and all MEN1 patients possess somatic mutations of the MEN1 gene [6,30,31].”
BackgroundInfluential
Improving susceptibility of neuroendocrine tumors to radionuclide therapies: personalized approaches towards complementary treatments
Richter, S., Steenblock, C., Fischer, A., Lemm, S., Ziegler, C. G., Bechmann, N., Nölting, S., Pietzsch, J., & Ullrich, M. (2023) · Theranostics · doi:10.7150/thno.87345 · Cited by 16
“Different mechanisms were shown to result in PI3K/AKT/mTOR activation in GEP-NENs, including gene mutations in pathway components, copy number gain of AKT1 or AKT2, decreased expression of mTOR regulators PTEN and TSC2 or increased expression of tumorigenic pathway components [106, 138-140].”
Background
Treatment of Advanced Merkel Cell Carcinoma: Current Therapeutic Options and Novel Immunotherapy Approaches
Femia, D., Prinzi, N., Anichini, A., Mortarini, R., Nichetti, F., Corti, F., Torchio, M., Peverelli, G., Pagani, F., Maurichi, A., et al. (2018) · Targeted Oncology · doi:10.1007/s11523-018-0585-y · Cited by 16
Rare BRAF mutations in pancreatic neuroendocrine tumors may predict response to RAF and MEK inhibition
Allen, A. N., Qin, A. C. R., Raj, N. P., Wang, J., Uddin, S., Yao, Z., Tang, L. H., Meyers, P. A., Taylor, B. S., Berger, M. F., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0217399 · Cited by 16
Differences between Well-Differentiated Neuroendocrine Tumors and Ductal Adenocarcinomas of the Pancreas Assessed by Multi-Omics Profiling
Starzyñska, T., Karczmarski, J., Paziewska, A., Kulecka, M., Kuśnierz, K., Żeber‐Lubecka, N., Ambrożkiewicz, F., Mikuła, M., Kos‐Kudła, B., & Ostrowski, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124470 · Cited by 15
“Another whole-exome sequencing (WES) study has uncovered somatic point mutations and gene fusions in genes involved in four main pathways: chromatin remodeling, DNA damage repair, activation of mTOR signaling, and telomere maintenance [21].”
Background
Prognostic value of DAXX/ATRX loss of expression and ALT activation in PanNETs: is it time for clinical implementation?
Marinoni, I. (2021) · Gut · doi:10.1136/gutjnl-2021-324664 · Cited by 16
Clinical applications of (epi)genetics in gastroenteropancreatic neuroendocrine neoplasms: Moving towards liquid biopsies
Boons, G., Vandamme, T., Peeters, M., Camp, G. V., & de Beeck, K. O. (2019) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-019-09508-w · Cited by 16
Insights into Epigenetic Changes Related to Genetic Variants and Cells-of-Origin of Pancreatic Neuroendocrine Tumors: An Algorithm for Practical Workup
Ciobanu, O. A., Martin, S. C., Herlea, V., & Fica, S. V. (2022) · Cancers · doi:10.3390/cancers14184444 · Cited by 14
“Additionally, MEN1 influences all these key processes [11].”
BackgroundMethodInfluential
Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms
Venizelos, A., Sørbye, H., Elvebakken, H., Perren, A. A., Lothe, I. M. B., Couvelard, A., Hjortland, G. O., Sundlöv, A., Svensson, J. B., Garresori, H., et al. (2023) · Endocrine Related Cancer · doi:10.1530/erc-23-0057 · Cited by 15
Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response
Alors‐Pérez, E., Pedraza‐Arévalo, S., Blázquez‐Encinas, R., García‐Vioque, V., Agraz-Doblás, A., Yubero‐Serrano, E. M., Sánchez‐Frías, M., Serrano‐Blanch, R., Gálvez-Moreno, M. Á., Gracia‐Navarro, F., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.102090 · Cited by 13
“39,40 In contrast, CELF4 expression levels were directly correlated with TSC1 and BAD , two pivotal intermediaries of PI3K/Akt and EGFR/MAPK pathways, 6,41 whose expression appeared to be enriched in relation to CELF4 expression in the GSE/DAVID analysis.”
Background
Molecular challenges of neuroendocrine tumors (Review)
Patel, P., & Galoian, K. A. (2017) · Oncology Letters · doi:10.3892/ol.2017.7680 · Cited by 15
“DNA damage repair, chromatin remodelling, telomere maintenance and mTOR signalling (136,137) were reported as common mutated pathways for PanNET based on genome sequencing analysis.”
Biology and Systemic Treatment of Advanced Gastroenteropancreatic Neuroendocrine Tumors
Raj, N. P., Fazio, N., & Strosberg, J. (2018) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_200893 · Cited by 15
Expression Patterns and Prognostic Value of DNA Damage Repair Proteins in Resected Pancreatic Neuroendocrine Neoplasms
Hua, J., Shi, S., Xu, J., Wei, M., Zhang, Y., Liu, J., Zhang, B., & Yu, X. (2020) · Annals of Surgery · doi:10.1097/sla.0000000000003884 · Cited by 15
“However, recent large-scale studies unveiled 4 core pathways, that is, the DNA damage repair (DDR), chromatin remodeling, telomere alteration, and phosphoinositide 3-kinase/mammalian target of rapamycin signaling pathways.(24,25) DDR mechanisms are altered by both germinal and somatic mutations.”
Background
Primary cutaneous Ewing sarcoma with diffuse S100 / SOX10 positivity and pseudoalveolar pattern: An extraordinarily rare case highlighting a potential pitfall with significant repercussions
Evangelou, Z., Zhang, L., Tafe, L. J., Azzouz, L., Grada, Z., & Linos, K. D. (2020) · Journal of Cutaneous Pathology · doi:10.1111/cup.13788 · Cited by 15
“Even EWSR1-FLI1, which was considered pathognomomic of Ewing sarcoma, has recently been reported in pancreatic neuroendocrine tumors (PanNET).(41) More specifically Scarpa et al(41) studied the”
Background
Current and New Challenges in the Management of Pancreatic Neuroendocrine Tumors: The Role of miRNA-Based Approaches as New Reliable Biomarkers
Havasi, A. D., Sur, D. G., Cainap, S. S., Lungulescu, C.-V., Gavrilaș, L. I., Cainap, C. I., Vlad, C. I., & Bălăcescu, O. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031109 · Cited by 16
“underlined the presence of MEN1 mutations in 37% of sporadic PanNET patients [85].”
BackgroundInfluential
qmotif: determination of telomere content from whole-genome sequence data
Holmes, O., Nones, K., Tang, Y., Loffler, K. A., Lee, M., Patch, A., Dagg, R. A., Lau, L. M. S., Leonard, C., Wood, S., et al. (2022) · Bioinformatics Advances · doi:10.1093/bioadv/vbac005 · Cited by 17
Self-citation
“Pure” hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms
Mattiolo, P., Mafficini, A., Lawlor, R. T., Marchegiani, G., Malleo, G., Pea, A., Salvia, R., Piccoli, P., Sciammarella, C., Santonicco, N., et al. (2022) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-022-03317-4 · Cited by 15
Self-citation
Epigenetic Regulation in Gastroenteropancreatic Neuroendocrine Tumors
Crabtree, J. S. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.901435 · Cited by 17
Unravelling the pharmacologic opportunities and future directions for targeted therapies in gastro-intestinal cancers part 2: Neuroendocrine tumours, hepatocellular carcinoma, and gastro-intestinal stromal tumours
Neuzillet, C., de Mestier, L., Rousseau, B., Mir, O., Hebbar, M., Kocher, H. M., Ruszniewski, P. B., & Tournigand, C. (2017) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2017.07.006 · Cited by 15
“…syndromes, pNET are mainly driven by somatic mutations, which are commonly found in genes involved in chromatin remodelling, DNA damage repair, mTOR signalling, and telomere maintenance (Scarpa et al., 2017), while (ii) siNET display high level of epigenetic deregulation (Karpathakis et al., 2016).”
Anti-tumour activity of everolimus and sunitinib in neuroendocrine neoplasms
Daskalakis, K., Tsoli, M., Angelousi, A. G., Kassi, E., Alexandraki, K., Kolomodi, D., Kaltsas, G., & Koumarianou, A. A. (2019) · Endocrine Connections · doi:10.1530/ec-19-0134 · Cited by 15

Authors: Initiative, A. P. C. G., Scarpa, A., Chang, D. K., Nones, K., Corbo, V., Patch, A.-M., Bailey, P., Lawlor, R. T., Johns, A. L., Miller, D. K., Mafficini, A., Rusev, B., Scardoni, M., Antonello, D., Barbi, S., Sikora, K. O., Cingarlini, S., Vicentini, C., McKay, S., Quinn, M. C. J., Bruxner, T. J. C., Christ, A. N., Harliwong, I., Idrisoglu, S., McLean, S., Nourse, C., Nourbakhsh, E., Wilson, P. J., Anderson, M. J., Fink, J. L., Newell, F., Waddell, N., Holmes, O., Kazakoff, S. H., Leonard, C., Wood, S., Xu, Q., Nagaraj, S. H., Amato, E., Dalai, I., Bersani, S., Cataldo, I., Dei Tos, A. P., Capelli, P., Davì, M. V., Landoni, L., Malpaga, A., Miotto, M., Whitehall, V. L. J., Leggett, B. A., Harris, J. L., Harris, J., Jones, M. D., Humphris, J., Chantrill, L. A., Chin, V., Nagrial, A. M., Pajic, M., Scarlett, C. J., Pinho, A., Rooman, I., Toon, C., Wu, J., Pinese, M., Cowley, M., Barbour, A., Mawson, A., Humphrey, E. S., Colvin, E. K., Chou, A., Lovell, J. A., Jamieson, N. B., Duthie, F., Gingras, M.-C., Fisher, W. E., Dagg, R. A., Lau, L. M. S., Lee, M., Pickett, H. A., Reddel, R. R., Samra, J. S., Kench, J. G., Merrett, N. D., Epari, K., Nguyen, N. Q., Zeps, N., Falconi, M., Simbolo, M., Butturini, G., Van Buren, G., Partelli, S., Fassan, M., Khanna, K. K., Gill, A. J., Wheeler, D. A., Gibbs, R. A., Musgrove, E. A., Bassi, C., Tortora, G., Pederzoli, P., Pearson, J. V., Waddell, N., Biankin, A. V., & Grimmond, S. M.
Affiliations: University of Verona (IT)
Garvan Institute of Medical Research (AU)
The University of Queensland (AU)
Queensland University of Technology (AU)
Glasgow Royal Infirmary (GB)
Baylor College of Medicine (US)
Children's Hospital at Westmead (AU)
The University of Sydney (AU)
Fremantle Hospital (AU)
Royal Adelaide Hospital (AU)
The University of Melbourne (AU)
Corresponding author: Scarpa, Aldo
Biankin, Andrew V.
Grimmond, Sean M.
ORCID: Scarpa, Aldo
Chang, David K.
Corbo, Vincenzo
Patch, Ann-Marie
Bailey, Peter
Lawlor, Rita T.
Johns, Amber L.
Mafficini, Andrea
Rusev, Borislav
Antonello, Davide
Barbi, Stefano
Cingarlini, Sara
Vicentini, Caterina
Quinn, Michael C. J.
Bruxner, Timothy J. C.
Christ, Angelika N.
Harliwong, Ivon
Nourbakhsh, Ehsan
Wilson, Peter J.
Anderson, Matthew J.
Fink, J. Lynn
Newell, Felicity
Holmes, Oliver
Kazakoff, Stephen H.
Leonard, Conrad
Wood, Scott
Nagaraj, Shivashankar Hiriyur
Bersani, Samantha
Cataldo, Ivana
Davì, Maria Vittoria
Landoni, Luca
Malpaga, Anna
Miotto, Marco
Whitehall, Vicki L. J.
Leggett, Barbara A.
Harris, Jonathan
Jones, Marc D.
Chantrill, Lorraine A.
Chin, Venessa
Nagrial, Adnan M.
Pajic, Marina
Scarlett, Christopher J.
Pinho, Andreia
Rooman, Ilse
Toon, Christopher
Wu, Jianmin
Pinese, Mark
Cowley, Mark
Barbour, Andrew
Mawson, Amanda
Colvin, Emily K.
Chou, Angela
Jamieson, Nigel B.
Gingras, Marie-Claude
Dagg, Rebecca A.
Lau, Loretta M. S.
Lee, Michael
Pickett, Hilda A.
Reddel, Roger R.
Samra, Jaswinder S.
Kench, James G.
Merrett, Neil D.
Nguyen, Nam Q.
Zeps, Nikolajs
Falconi, Massimo
Simbolo, Michele
Partelli, Stefano
Fassan, Matteo
Khanna, Kum Kum
Gill, Anthony J.
Wheeler, David A.
Gibbs, Richard A.
Bassi, Claudio
Tortora, Giampaolo
Pearson, John V.
Waddell, Nicola
Biankin, Andrew V.
Grimmond, Sean M.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2017-02-15
Volume: 543
Issue: 7643
Pages: 65-71
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature21063
OpenAlex: W2589112207
Cited by: 999
References: 62
Citations by year: 2026: 65 · 2025: 101 · 2024: 103 · 2023: 110 · 2022: 126 · 2021: 108 · 2020: 131 · 2019: 89 · 2018: 103 · 2017: 52
FWCI: 81.15
Type: journal article
Language: en
Update notices: erratum (2017-09-27)
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
QUT ePrints (Queensland University of Technology) (submittedVersion)
UWA Profiles and Research Repository (UWA) (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
NOVA (University of Newcastle Australia) (submittedVersion)
VUBIR (Vrije Universiteit Brussel) (submittedVersion)
Padua Research Archive (University of Padova) (submittedVersion)
Funders: Pancreatic Cancer UK (RIF2015_A06_Jamieson, FLF2015_04_GLASGOW)
Wellcome Trust (103721/Z/14/Z)
Cancer Research UK (23526, 17263, 22533)
Academy of Medical Sciences (AMS-SGCL9-Jamieson)
Medical Research Council (MR/N005813/1)
Topics: Health Sciences › Medicine › Oncology › Neuroendocrine Tumor Research Advances
Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords: pancreatic neuroendocrine tumors, mutational signatures, MUTYH, germline mutations, CHEK2, BRCA2, MEN1, VHL, chromatin remodeling, DNA repair, mTOR signaling, telomere maintenance, hypoxia, carcinogenesis
MeSH terms: Base Sequence, Calmodulin-Binding Proteins, Chromosome Aberrations, DNA Mutational Analysis, DNA Repair, Female, Humans, Male, Pancreatic Neoplasms, Genome, Human, RNA-Binding Proteins, Telomere, Germ-Line Mutation, Carcinoma, Neuroendocrine, Genomics, RNA-Binding Protein EWS, Chromatin Assembly and Disassembly, DNA Glycosylases, DNA Copy Number Variations, TOR Serine-Threonine Kinases

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Whole-genome landscape of pancreatic neuroendocrine tumours

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks