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.

doi:10.1038/nature21063

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

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. +96 more·2017·Nature

DOI 10.1038/nature21063

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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.

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In case FBC070205, substitution signatures were dominated by C>A transversions in NpCpA or NpCpT contexts, which have been linked to MUTYH inactivation.
“substitution signatures were dominated by C>A transversions in NpCpA or NpCpT contexts (Figures 2 and 3) previously associated with inactivation of the BER gene MUTYH [11].”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [11]

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Rindi, G., Klimstra, D. S., Abedi‐Ardekani, B., Asa, S. L., Bosman, F. T., Brambilla, E. M., BUSAM, K. J., de Krijger, R. R., Dietel, M., El‐Naggar, A. K., et al. (2018) · Modern Pathology · doi:10.1038/s41379-018-0110-y · Cited by 1,164 · see citing works
Self-citation
Comprehensive Analysis of Hypermutation in Human Cancer
Campbell, B. B., Light, N. D., Fabrizio, D. A., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., et al. (2017) · Cell · doi:10.1016/j.cell.2017.09.048 · Cited by 759 · see citing works
“Importantly, a similar approach may lead to novel insights and clinical applications in other DNA repair genes, especially for those with a unique signature (Scarpa et al., 2017).”
Consensus guidelines for the use and interpretation of angiogenesis assays
Nowak-Sliwinska, P. M., Alitalo, K. K., Allen, E., Anisimov, A., Aplin, A. C., Auerbach, R., Augustin, H. G., Bates, D. O., B, J. R. V. B., Bender, R. H. F., et al. (2018) · Angiogenesis · doi:10.1007/s10456-018-9613-x · Cited by 600 · see citing works
Gastroenteropancreatic Neuroendocrine Tumors
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Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers
Pozdeyev, N. V., Gay, L. M., Sokol, E. S., Hartmaier, R. J., Deaver, K. E., Davis, S., French, J. D., Borre, P. V., LaBarbera, D. V., Tan, A. C., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0373 · Cited by 538 · see citing works
Signatures of copy number alterations in human cancer
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The North American Neuroendocrine Tumor Society Consensus Paper on the Surgical Management of Pancreatic Neuroendocrine Tumors
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The North American Neuroendocrine Tumor Society Consensus Guidelines for Surveillance and Medical Management of Midgut Neuroendocrine Tumors
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The molecular basis of nutrient sensing and signalling by mTORC1 in metabolism regulation and disease
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“Recent studies have partially clarified this paradoxical situation of the coexistence of constitutively active mTORC1 and dephosphoryl-ated TFEB in BHD.”
Background
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes
Hofland, J., Falconi, M., Christ, E., Castano, J. P., Faggiano, A., Lamarca, Á., Perren, A. A., Petrucci, S., Prasad, V., Ruszniewski, P. B., et al. (2023) · Journal of Neuroendocrinology · doi:10.1111/jne.13318 · Cited by 265 · see citing works
“Recently, large scale international collaborative studies are enabling the characterisation through omics approaches of the main molecular layers of Pan-NET.”
InfluentialSelf-citation
European Neuroendocrine Tumour Society ( ENETS ) 2023 guidance paper for nonfunctioning pancreatic neuroendocrine tumours
Kos‐Kudła, B., Castano, J. P., Denecke, T., Grande, E., Kjær, A., Koumarianou, A. A., de Mestier, L., Partelli, S., Perren, A. A., Stättner, S., et al. (2023) · Journal of Neuroendocrinology · doi:10.1111/jne.13343 · Cited by 262 · see citing works
Self-citation
Succinate dehydrogenase (SDH)‐deficient neoplasia
Gill, A. J. (2017) · Histopathology · doi:10.1111/his.13277 · Cited by 257 · see citing works
Self-citation
Neuroendocrine Neoplasms: Dichotomy, Origin and Classifications
Klöppel, G. (2017) · Visceral Medicine · doi:10.1159/000481390 · Cited by 248 · see citing works
An Organoid Biobank of Neuroendocrine Neoplasms Enables Genotype-Phenotype Mapping
Kawasaki, K., Toshimitsu, K., Matano, M., Fujita, M., Fujii, M., Togasaki, K., Ebisudani, T., Shimokawa, M., Takano, A., Takahashi, S., et al. (2020) · Cell · doi:10.1016/j.cell.2020.10.023 · Cited by 238 · see citing works
ATRX, DAXX or MEN1 mutant pancreatic neuroendocrine tumors are a distinct alpha-cell signature subgroup
Chan, C. S., Laddha, S. V., Lewis, P. W., Koletsky, M. S., Robzyk, K., da Silva, E. M., Torres, P. J., Untch, B. R., Li, J., Bose, P., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06498-2 · Cited by 236 · see citing works
Biology and evolution of poorly differentiated neuroendocrine tumors
Rickman, D. S., Beltran, H., Demichelis, F., & Rubin, M. A. (2017) · Nature Medicine · doi:10.1038/nm.4341 · Cited by 230 · see citing works
Immunohistochemistry in the diagnosis and classification of neuroendocrine neoplasms: what can brown do for you?
Bellizzi, A. M. (2019) · Human Pathology · doi:10.1016/j.humpath.2019.12.002 · Cited by 223 · see citing works
“Frequent ATRX inactivation (10–18%) was identified in recent studies defining the molecular genetic landscape of pancreatic NETs [106,107].”
Background
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Alcala, N., Leblay, N., Gabriel, A., Mangiante, L., Hervás, D., Giffon, T., Sertier, A.-S., Ferrari, A., Derks, J. L., Ghantous, A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11276-9 · Cited by 222 · see citing works
“A ccording to the WHO classi ﬁ cation from 2015 1 and a recent IARC-WHO expert consensus proposal 2 , pulmonary carcinoids are low-grade typical and intermediate-grade atypical well-differentiated lung neuroendocrine tumours (LNETs) that belong to the group of lung neuroendocrine neoplasms (LNENs), which also includes…”
BackgroundInfluential
Multiple Endocrine Neoplasia Type 1: Latest Insights
Brandi, M. L., Agarwal, S. K., Perrier, N. D., Lines, K. E., Valk, G. D., & Thakker, R. V. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa031 · Cited by 223 · see citing works
Genetics and Epigenetics of Gastroenteropancreatic Neuroendocrine Neoplasms
Mafficini, A., & Scarpa, A. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00160 · Cited by 215 · see citing works
Self-citation
Advances in the Diagnosis and Management of Well-Differentiated Neuroendocrine Neoplasms
Hofland, J., Kaltsas, G., & de Herder, W. W. (2019) · Endocrine Reviews · doi:10.1210/endrev/bnz004 · Cited by 210 · see citing works
Rebuilding Chromosomes After Catastrophe: Emerging Mechanisms of Chromothripsis
Ly, P., & Cleveland, D. W. (2017) · Trends in Cell Biology · doi:10.1016/j.tcb.2017.08.005 · Cited by 205 · see citing works
The North American Neuroendocrine Tumor Society Consensus Guidelines for Surveillance and Medical Management of Pancreatic Neuroendocrine Tumors
Halfdanarson, T. R., Strosberg, J., Tang, L. A., Bellizzi, A. M., Bergsland, E. K., O’Dorisio, T. M., Halperin, D. M., Fishbein, L. M., Eads, J. R., Hope, T. A., et al. (2020) · Pancreas · doi:10.1097/mpa.0000000000001597 · Cited by 205 · see citing works
Prospective, Multi-Institutional, Real-Time Next-Generation Sequencing of Pancreatic Cyst Fluid Reveals Diverse Genomic Alterations That Improve the Clinical Management of Pancreatic Cysts
Paniccia, A., Polanco, P. M., Boone, B. A., Wald, A. I., McGrath, K., Brand, R. E., Khalid, A., Kubiliun, N. M., Lennon, A. M., Park, W. G., et al. (2022) · Gastroenterology · doi:10.1053/j.gastro.2022.09.028 · Cited by 211 · see citing works
Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis
Kamilaris, C. D. C., & Stratakis, C. A. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00339 · Cited by 198 · see citing works
Surufatinib in advanced extrapancreatic neuroendocrine tumours (SANET-ep): a randomised, double-blind, placebo-controlled, phase 3 study
Xu, J., Shen, L., Zhou, Z., Li, J., Bai, C., Chi, Y., Li, Z., Xu, N., Li, E., Liu, T., et al. (2020) · The Lancet Oncology · doi:10.1016/s1470-2045(20)30496-4 · Cited by 197 · see citing works
What is New in the 2019 World Health Organization (WHO) Classification of Tumors of the Digestive System: Review of Selected Updates on Neuroendocrine Neoplasms, Appendiceal Tumors, and Molecular Testing
Assarzadegan, N., & Montgomery, E. A. (2020) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2019-0665-ra · Cited by 198 · see citing works
Therapeutic implications of menin inhibition in acute leukemias
Issa, G. C., Ravandi, F., Dinardo, C. D., Jabbour, E. J., Kantarjian, H. M., & Andreeff, M. (2021) · Leukemia · doi:10.1038/s41375-021-01309-y · Cited by 195 · see citing works
The New World Health Organization Classification for Pancreatic Neuroendocrine Neoplasia
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Ewing sarcoma and Ewing-like tumors
Sbaraglia, M., Righi, A., Gambarotti, M., & Tos, A. P. D. (2019) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-019-02720-8 · Cited by 183 · see citing works
Enhancer signatures stratify and predict outcomes of non-functional pancreatic neuroendocrine tumors
Cejas, P., Drier, Y., Dreijerink, K. M. A., Brosens, L. A. A., Deshpande, V., Epstein, C. B., Conemans, E. B., Morsink, F. H. M., Graham, M. K., Valk, G. D., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0493-4 · Cited by 182 · see citing works
Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size
Hackeng, W. M., Brosens, L. A. A., Kim, J. Y., O’Sullivan, R. J., Sung, Y.-N., Liu, T., Cao, D., Heayn, M., Brosnan‐Cashman, J. A., An, S., et al. (2021) · Gut · doi:10.1136/gutjnl-2020-322595 · Cited by 162 · see citing works
Self-citation
Digestive System Mixed Neuroendocrine-Non-Neuroendocrine Neoplasms
de Mestier, L., Cros, J. F., Neuzillet, C., Hentic, O., Egal, A., Müller, N., Bouché, O., Cadiot, G., Ruszniewski, P. B., Couvelard, A., et al. (2017) · Neuroendocrinology · doi:10.1159/000475527 · Cited by 163 · see citing works
JNETS clinical practice guidelines for gastroenteropancreatic neuroendocrine neoplasms: diagnosis, treatment, and follow-up: a synopsis
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Classification of pulmonary neuroendocrine tumors: new insights
Pelosi, G., Sonzogni, A., Harari, S. A., Albini, A., Bresaola, E., Marchiò, C., Massa, F., Righi, L., Gatti, G., Papanikolaou, N. K., et al. (2017) · Translational Lung Cancer Research · doi:10.21037/tlcr.2017.09.04 · Cited by 146 · see citing works
“It has been observed that carcinoids and high-grade NE carcinomas in the lung share most of the altered genes, such as mutations, copy number variations and microRNA, even though at different prevalence (24-27,95,157), and that common mutations or chromosomal changes may unexpectedly cluster tumor regardless of histol…”
BackgroundInfluential
Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System
Yachida, S., Totoki, Y., Noë, M., Nakatani, Y., Horie, M., Kawasaki, K., Nakamura, H., Saito-Adachi, M., Suzuki, M., Takai, E., et al. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0669 · Cited by 119 · see citing works
“Somatic mutations in pancreatic NETs (Panc-NET) have been well characterized (4, 5).”
Genetic and epigenetic drivers of neuroendocrine tumours (NET)
Domenico, A. D., Wiedmer, T., Marinoni, I., & Perren, A. A. (2017) · Endocrine Related Cancer · doi:10.1530/erc-17-0012 · Cited by 139 · see citing works
Pancreatic neuroendocrine carcinomas reveal a closer relationship to ductal adenocarcinomas than to neuroendocrine tumors G3
Konukiewitz, B., Jesinghaus, M., Steiger, K., Schlitter, A. M., Kasajima, A., Sipos, B., Zamboni, G., Weichert, W., Pfarr, N., & Klöppel, G. (2018) · Human Pathology · doi:10.1016/j.humpath.2018.03.018 · Cited by 133 · see citing works
Telomere Maintenance Mechanisms in Cancer
Gaspar, T. B., Sá, A., Lopes, J. M., Sobrinho-Simões, M. A., Soares, P., & Vinagre, J. (2018) · Genes · doi:10.3390/genes9050241 · Cited by 132 · see citing works
“ALT is also suggested to predict metastatic disease and poor survival in these tumours [306,309,311,312,334].”
Background
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets
van Riet, J., van de Werken, H. J. G., Cuppen, E. P. J. G., Eskens, F. A. L. M., Tesselaar, M. E. T., van Veenendaal, L. M., Klümpen, H., Dercksen, M. W., Valk, G. D., Lolkema, M. P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24812-3 · Cited by 133 · see citing works
Variant classification in precision oncology
Leichsenring, J., Horak, P., Kreutzfeldt, S., Heining, C., Christopoulos, P., Volckmar, A., Neumann, O., Kirchner, M., Ploeger, C., Budczies, J., et al. (2019) · International Journal of Cancer · doi:10.1002/ijc.32358 · Cited by 130 · see citing works
Pancreatic Cancer: Molecular Characterization, Clonal Evolution and Cancer Stem Cells
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“In the G2 subgroup, tumors displaying ATRX or DAXX or inactivating mutations of negative regulators of mTOR are associated with poor prognosis [207].”
BackgroundInfluential
Whole-genome sequencing reveals distinct genetic bases for insulinomas and non-functional pancreatic neuroendocrine tumours: leading to a new classification system
Hong, X., Qiao, S., Li, F., Wang, W., Jiang, R., Wu, H., Chen, H. H., Liu, L., Peng, J., Wang, J., et al. (2019) · Gut · doi:10.1136/gutjnl-2018-317233 · Cited by 122 · see citing works
An Algorithmic Immunohistochemical Approach to Define Tumor Type and Assign Site of Origin
Bellizzi, A. M. (2020) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000256 · Cited by 124 · see citing works
Neuroendocrine Neoplasms of the Small Bowel and Pancreas
Clift, A. K., Kidd, M. S., Bodei, L., Toumpanakis, C., Baum, R. P., Öberg, K., Modlin, I. M., & Frilling, A. (2019) · Neuroendocrinology · doi:10.1159/000503721 · Cited by 122 · see citing works
Immunohistochemical Biomarkers of Gastrointestinal, Pancreatic, Pulmonary, and Thymic Neuroendocrine Neoplasms
Uccella, S., Rosa, S. L., Volante, M., & Papotti, M. G. (2018) · Endocrine Pathology · doi:10.1007/s12022-018-9522-y · Cited by 115 · see citing works
Epigenetic landscape of pancreatic neuroendocrine tumours reveals distinct cells of origin and means of tumour progression
Domenico, A. D., Pipinikas, C., Maire, R., Bräutigam, K., Simillion, C., Dettmer, M. S., Vassella, E., Thirlwell, C., Perren, A. A., & Marinoni, I. (2020) · Communications Biology · doi:10.1038/s42003-020-01479-y · Cited by 113 · see citing works
Role of biomarker tests for diagnosis of neuroendocrine tumours
Hofland, J., Zandee, W. T., & de Herder, W. W. (2018) · Nature Reviews Endocrinology · doi:10.1038/s41574-018-0082-5 · Cited by 113 · see citing works
Comprehensive Genomic Profiling of Gastroenteropancreatic Neuroendocrine Neoplasms (GEP-NENs)
Puccini, A., Poorman, K. A., Salem, M. E., Soldato, D., Seeber, A., Goldberg, R. M., Shields, A. F., Xiu, J., Battaglin, F., Berger, M. D., et al. (2020) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-1804 · Cited by 112 · see citing works
Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System
Yachida, S., Totoki, Y., Noë, M., Nakatani, Y., Horie, M., Kawasaki, K., Nakamura, H. K., Saito-Adachi, M., Suzuki, M., Takai, E., et al. (2022) · Utrecht University Repository (Utrecht University) · Cited by 112 · see citing works
Gene Expression Profiling of Lung Atypical Carcinoids and Large Cell Neuroendocrine Carcinomas Identifies Three Transcriptomic Subtypes with Specific Genomic Alterations
Simbolo, M., Barbi, S., Fassan, M., Mafficini, A., Alì, G., Vicentini, C., Sperandio, N., Corbo, V., Rusev, B. C., Mastracci, L., et al. (2019) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2019.05.003 · Cited by 108 · see citing works
“Indeed, the immunohistochemical findings in LNETs of the present series parallel those in pancreatic neuroendocrine neoplasms, in which of 80% of cases lacking menin nuclear immunostaining, only 30% revealed MEN1 mutations by sequencing analysis,(36) and subsequent whole-genome analysis showed gross chromosome 11 alte…”
BackgroundSelf-citation
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers
Nones, K., Johnson, J., Newell, F., Patch, A. M., Thorne, H., Kazakoff, S. H., de Luca, X. M., Parsons, M. T., Ferguson, K., Reid, L. E., et al. (2019) · Annals of Oncology · doi:10.1093/annonc/mdz132 · Cited by 93 · see citing works
“Some somatic mutational signatures are strongly linked to pathogenic germline variants in risk genes that play functional roles in DNA repair; for instance, homologous recombination (HR; BRCA1, BRCA2), mismatch repair (MLH1, MSH2, MSH6) or base excision repair (MUTYH) [7–9 , 11].”
InfluentialSelf-citation
Neoplasms of the Neuroendocrine Pancreas: An Update in the Classification, Definition, and Molecular Genetic Advances
Guilmette, J. M., & Nosé, V. (2018) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000201 · Cited by 105 · see citing works
Competitive Testing of the WHO 2010 versus the WHO 2017 Grading of Pancreatic Neuroendocrine Neoplasms: Data from a Large International Cohort Study
Rindi, G., Klersy, C., Albarello, L., Baudin, É., Bianchi, A., Büchler, M. W., Caplin, M. E., Couvelard, A., Cros, J. F., de Herder, W. W., et al. (2018) · Neuroendocrinology · doi:10.1159/000494355 · Cited by 105 · see citing works
Self-citation
The context-specific role of germline pathogenicity in tumorigenesis
Srinivasan, P., Bandlamudi, C., Jonsson, P., Kemel, Y. M., Chavan, S. S., Richards, A. L., Penson, A. V., Bielski, C. M., Fong, C. J., Syed, A., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00949-1 · Cited by 107 · see citing works
Genetic immune escape landscape in primary and metastatic cancer
Martínez-Jiménez, F., Priestley, P., Shale, C., Baber, J., Rozemuller, E. H., & Cuppen, E. P. J. G. (2023) · Nature Genetics · doi:10.1038/s41588-023-01367-1 · Cited by 104 · see citing works
Everolimus in the treatment of neuroendocrine tumors: efficacy, side-effects, resistance, and factors affecting its place in the treatment sequence
Lee, L., Ito, T., & Jensen, R. T. (2018) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2018.1476492 · Cited by 101 · see citing works
“Discrepancies between these studies may partly result from the small number of patients, and due to the heterogeneity in patient’s background, especially their genetic profile [8,16,145,184].”
Background
Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity
Shi, X., Li, Y., Yuan, Q., Tang, S., Guo, S., Zhang, Y., He, J., Zhang, X., Han, M., Liu, Z., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-29857-6 · Cited by 101 · see citing works
Well‐differentiated pancreatic neuroendocrine tumours (Pan NET s) and poorly differentiated pancreatic neuroendocrine carcinomas (Pan NEC s): concepts, issues and a practical diagnostic approach to high‐grade (G3) cases
Singhi, A. D., & Klimstra, D. S. (2017) · Histopathology · doi:10.1111/his.13408 · Cited by 98 · see citing works
Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times
Roy, S., LaFramboise, W. A., Liu, T., Cao, D., Luvison, A., Miller, C., Lyons, M. A., O’Sullivan, R. J., Zureikat, A. H., Hogg, M. E., et al. (2018) · Gastroenterology · doi:10.1053/j.gastro.2018.02.026 · Cited by 97 · see citing works
Genetic Analysis of Small Well-differentiated Pancreatic Neuroendocrine Tumors Identifies Subgroups With Differing Risks of Liver Metastases
Pea, A., Yu, J., Marchionni, L., Noë, M., Luchini, C., Pulvirenti, A., de Wilde, R. F., Brosens, L. A. A., Rezaee, N., Javed, A. A., et al. (2018) · Annals of Surgery · doi:10.1097/sla.0000000000003022 · Cited by 97 · see citing works
“Several lines of evidence suggest that most small primary chromosome in metastatic and nonmetastatic PanNETs.”
BackgroundMethodInfluentialSelf-citation
Genomic landscape of pancreatic neuroendocrine tumours: the International Cancer Genome Consortium
Mafficini, A., & Scarpa, A. (2018) · Journal of Endocrinology · doi:10.1530/joe-17-0560 · Cited by 95 · see citing works
“2013) and a previously unreported base excision-repair (BER) deficiency signature due to the biallelic inactivation of the MUTYH gene due to pathogenic germline mutations and somatic loss of heterozygosity; this signature has been shown therein to be the same of MUTYH-associated polyposis (MAP) of the colon (Scarpa et…”
ResultSelf-citation
DLL3 as an Emerging Target for the Treatment of Neuroendocrine Neoplasms
Yao, J. C., Bergsland, E. K., Aggarwal, R. R., Aparicio, A. M., Beltran, H., Crabtree, J. S., Hann, C. L., Ibrahim, T., Byers, L. A., Sasano, H., et al. (2022) · The Oncologist · doi:10.1093/oncolo/oyac161 · Cited by 98 · see citing works
Characterization of the Neuroendocrine Tumor Immune Microenvironment
da Silva, A., Bowden, M., Zhang, S., Masugi, Y., Thorner, A. R., Herbert, Z. T., Zhou, C. W., Brais, L. K., Chan, J. A., Hodi, F. S., et al. (2018) · Pancreas · doi:10.1097/mpa.0000000000001150 · Cited by 94 · see citing works
Differentiation therapy and the mechanisms that terminate cancer cell proliferation without harming normal cells
Enane, F. O., Saunthararajah, Y., & Korc, M. (2018) · Cell Death and Disease · doi:10.1038/s41419-018-0919-9 · Cited by 95 · see citing works
The future: genetics advances in MEN1 therapeutic approaches and management strategies
Agarwal, S. K. (2017) · Endocrine Related Cancer · doi:10.1530/erc-17-0199 · Cited by 93 · see citing works
Management of functional neuroendocrine tumors of the pancreas.
Öberg, K. (2018) · Gland surgery · doi:10.21037/gs.2017.10.08 · Cited by 78 · see citing works
Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability
Raj, N. P., Shah, R. H., Stadler, Z. K., Mukherjee, S., Chou, J. F., Untch, B. R., Li, J., Kelly, V., Osoba, M., Saltz, L. B., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00267 · Cited by 90 · see citing works
“Other (kidney, spleen, adrenal, adnexa, peritoneum) 5 (6)”
Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification
Asa, S. L., Mete, Ö., Cusimano, M. D., McCutcheon, I. E., Perry, A., Yamada, S., Nishioka, H., Casar‐Borota, O., Uccella, S., Rosa, S. L., et al. (2021) · Modern Pathology · doi:10.1038/s41379-021-00820-y · Cited by 90 · see citing works
Combination Strategies to Improve Targeted Radionuclide Therapy
Chan, T. G., O’Neill, E., Habjan, C., & Cornelissen, B. (2020) · Journal of Nuclear Medicine · doi:10.2967/jnumed.120.248062 · Cited by 91 · see citing works
“In recent years, TRT has rapidly grown in popularity, with agents such as [ 177 Lu-DOTA 0 ,Tyr 3 ]octreotate ( 177 Lu-DOTATATE), 131 I-metaiodobenzylguanidine ( 131 I-MIBG), Bexxar ® and Zevalin ® now clinically approved for the treatment of low-grade neuroendocrine tumours (NETs), neuroblastoma and non-Hodgkin’s lymp…”
BackgroundInfluential
The landscape of molecular alterations in pancreatic and small intestinal neuroendocrine tumours
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“Age, yrs, median (range) 57 (19–85) 59 (27–83) 55 (19–85) Sex, n (%) Female 321 (51) 116 (51) 205 (51) Male 311 (49) 110 (49) 201 (49) Functional, n (%) No 540 (85) 215 (95) 325 (80) Yes 90 (14) 11 (5) 79 (19) Unknown 2 (1) 0 (0) 2 (1) Multifocal, n (%) No 618 (98) 216 (96) 402 (99) Yes 14 (2) 10 (4) 5 (1) Primary pan…”
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“Other commonly mutated genes include DAXX or ATRX, genes in the mTOR pathway, genes involved in DNA damage repair such as MUTHY, and genes involved in chromatin modification.(17,18) Although mutations in the mTOR pathway are seen in only 12-15% of PNETs, expression and activity level analyses have revealed alterations…”
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Self-citation

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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 · 2015: 1 · 2014: 1 · 2013: 1 · 2012: 2
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 › Epidemiology › 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

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Whole-genome landscape of pancreatic neuroendocrine tumours

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