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Whole-genome landscape of pancreatic neuroendocrine tumours
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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“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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VHL Synthetic Lethality Signatures Uncovered by Genotype-Specific CRISPR-Cas9 Screens
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“One recent study utilizing a 50-gene panel showed that TP53, KRAS, PIK3CA/PTEN and BRAF mutations were common in these NECs (11).”
BackgroundResultInfluentialErratum: Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours
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Clinical and Preclinical Advances in Gastroenteropancreatic Neuroendocrine Tumor Therapy
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“Recent whole-exome (46) and whole-genome (72) sequencing of pancreatic NETs identified that the most commonly mutated genes in this tumor type are genes involved in chromatin remodeling, such as multiple endocrine neoplasia type 1 (MEN1), death domain-associated protein (DAXX), α-thalassemia/mental retardation syndrom…”
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Daxx Functions Are p53-Independent In Vivo
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“the most common mutations occurred were found in MEN1, DAXX, ATRX, and mTOR genes [86,87].”
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Self-citationLoss of the chromatin modifier Kdm2aa causes BrafV600E-independent spontaneous melanoma in zebrafish
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Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms
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“Other reported cancers with EWSR1::BEND2 include rare pancreatic neuroendocrine tumors, one case of a pancreas islet cell tumor, salivary carcinomas, and one case of an atypical carcinoid tumor of the lung [23,45–47] (Table S1).”
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The Dutch Pancreas Biobank Within the Parelsnoer Institute
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“This includes presence of both telomerase activation and alternative lengthening of telomeres due to ATRX or DAXX truncation as well as somatic or germline driver mutations in MEN1 [5,6,45,46].”
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Molecular Signatures and Their Clinical Utility in Pancreatic Neuroendocrine Tumors
Chatani, P. D., Agarwal, S. K., & Sadowski, S. M. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.575620 · Cited by 13
Functioning and nonfunctioning pNENs
Daskalakis, K. (2021) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2021.04.007 · Cited by 13
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Sperling, F., Misiak, D., Hüttelmaier, S., Michl, P., & Griesmann, H. (2022) · Cancers · doi:10.3390/cancers14092121 · Cited by 13
“Additionally recent analyses identified mutations in DNA repair genes (MUTYH, CHEK2, BRCA2) and in genes associated with chromatin remodeling, DNA damage repair and telomere maintenance [10].”
BackgroundBlázquez‐Encinas, R., Moreno-Montilla, M. T., García‐Vioque, V., Gracia‐Navarro, F., Alors‐Pérez, E., Pedraza‐Arévalo, S., Ibáñez‐Costa, A., & Castano, J. P. (2022) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-022-09771-4 · Cited by 13
GERMLINE PATHOGENIC VARIANTS IN PATIENTS WITH EARLY ONSET NEUROENDOCRINE NEOPLASMS
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“At the genetic level, mutations in key players of the mammalian Target Of Rapamycin (mTOR) pathway have been identified in pNET patient tumors by whole-exome sequencing (3, 4).”
BackgroundLoss of Menin Expression by Immunohistochemistry in Pancreatic Neuroendocrine Tumors
Samdani, R. T., Wasylishen, A. R., Halperin, D. M., Dasari, A. N., Yao, J. C., Rashid, A., & Estrella, J. S. (2019) · Pancreas · doi:10.1097/mpa.0000000000001274 · Cited by 13
Pieterman, C. R. C., Sadowski, S. M., Maxwell, J., Katz, M. H. G., Lines, K. E., Heaphy, C. M., Tirosh, A., Blau, J. E., Perrier, N. D., Lewis, M. A., et al. (2020) · Endocrine Related Cancer · doi:10.1530/erc-19-0441 · Cited by 15
“In sporadic PanNET, whole-exome and whole-genome sequencing studies have revealed mutually exclusive, inactivating somatic mutations in ATRX or DAXX in both primary and metastatic disease (Jiao et al. 2011, Scarpa et al. 2017).”
BackgroundFrom single gene analysis to single cell profiling: a new era for precision medicine
Martino, M. T. D., Meschini, S., Scotlandi, K., Riganti, C., Smaele, E. D., Zazzeroni, F., Donadelli, M., Leonetti, C., & Caraglia, M. (2020) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-020-01549-3 · Cited by 13
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Self-citationFrequency and consequence of the recurrent YY1 p.T372R mutation in sporadic insulinomas
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Exploratory genomic analysis of high-grade neuroendocrine neoplasms across diverse primary sites
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Chromothripsis: an emerging crossroad from aberrant mitosis to therapeutic opportunities
Ejaz, U., Dou, Z., Yao, P. Y., Wang, Z., Liu, X., & Yao, X. (2024) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjae016 · Cited by 13
“…resemblance to its original con-figuration, and its distinct mutation signature has been iden-tified in various cancers, particularly bone, blood, and brain cancers (Parker et al., 2014 ; George et al., 2015 ; Notta et al., 2016 ; Fraser et al., 2017 ; Scarpa et al., 2017 ; Zhang et al., 2023 ).”
BackgroundImmunotherapy in Neuroendocrine Neoplasms: A Diamond to Cut
Torralba, E. G., Garcia-Lorenzo, E., Doger, B., Spada, F., & Lamarca, Á. (2024) · Cancers · doi:10.3390/cancers16142530 · Cited by 12
“Similar findings have been replicated in independent cohorts, showing a higher TMB in G3 and NECs compared to well-differentiated NENs [43,44].”
ResultXiao, Y. P., Yang, Y., Wang, Y., Li, X., & Wang, W. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00937 · Cited by 12
Treatment of Gastroenteropancreatic Neuroendocrine Tumors
Perez, K. J., & Chan, J. A. (2019) · Surgical pathology clinics · doi:10.1016/j.path.2019.08.011 · Cited by 12
Benhamida, J. K., Vyas, M., Tanaka, A., Wang, L., Bahrami, A., Özcan, K., Baştürk, O., Villafania, L. B., Mata, D. A., Jabbour, T. E., et al. (2021) · Modern Pathology · doi:10.1038/s41379-021-00989-2 · Cited by 12
ATRX-Deficient High-Grade Glioma Cells Exhibit Increased Sensitivity to RTK and PDGFR Inhibitors
Pladevall‐Morera, D., Castejón-Griñán, M., Aguilera, P., Gaardahl, K., Ingham, A., Brosnan‐Cashman, J. A., Meeker, A. K., & Lopez-Contreras, A. J. (2022) · Cancers · doi:10.3390/cancers14071790 · Cited by 13
“On the contrary, ATRX and DAXX mutations are mutually exclusive in glioma and other cancers [2,18].”
BackgroundFu, M., Yu, L., Yang, L., Chen, Y., Chen, X., Hu, Q., & Sun, H. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.885895 · Cited by 12
Karihtala, P., Porvari, K., Roininen, N., Voutilainen, S., Mattson, J., Heikkilä, P., Haapasaari, K., & Selander, K. S. (2022) · Oncogenesis · doi:10.1038/s41389-022-00427-1 · Cited by 12
“We compared the sequencing results with previously published mutational spectra of IDC and pancreatic NET (PNET) cases from The Cancer Genomic Atlas (TCGA) [11, 12].”
BackgroundResultInfluentialMolecular typing and mutational characterization of rectal neuroendocrine neoplasms
Duan, X., Zhao, M., Yin, X., Mi, L., Shi, J., Li, N., Han, X., Han, G., Wang, J., Hou, J., et al. (2023) · Cancer Medicine · doi:10.1002/cam4.6281 · Cited by 12
Inherited Neuroendocrine Neoplasms
Mete, Ö., Hannah‐Shmouni, F., Kim, R. H., & Stratakis, C. A. (2020) · Springer eBooks · doi:10.1007/978-3-030-54391-4_18 · Cited by 12
Oversoe, S. K., Sørensen, B. S., Tabaksblat, E. M., Grønbæk, H., & Kelsen, J. (2021) · Neuroendocrinology · doi:10.1159/000514457 · Cited by 12
Clonal Evolution Dynamics in Primary and Metastatic Lesions of Pancreatic Neuroendocrine Neoplasms
Tong, Z., Wang, L., Shi, W., Zeng, Y., Zhang, H., Liu, L., Zheng, Y., Chen, C., Xia, W., Fang, W. J., et al. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.620988 · Cited by 12
RABL6A Promotes Pancreatic Neuroendocrine Tumor Angiogenesis and Progression In Vivo
Maharjan, C. K., Umesalma, S., Kaemmer, C. A., Muniz, V. P., Bauchle, C. J., Mott, S. L., Zamba, K. D., Breheny, P. J., Leidinger, M., Darbro, B. W., et al. (2021) · Biomedicines · doi:10.3390/biomedicines9060633 · Cited by 12
“Patients with the MEN1 familial tumor syndrome develop multiple endocrine tumors, such as insulinomas, and somatic mutations of human MEN1 are also common in various sporadic NETs, including those of the pancreas (Jensen, Berna, Bingham, & Norton, 2008; Jiao et al., 2011; Scarpa et al., 2017).”
BackgroundEmerging Diagnostics and Therapies in Neuroendocrine Neoplasms: A Critical Review
Hernández-Félix, J. H., Medina, M. I. M., Riechelmann, R. P., Strosberg, J., García‐Carbonero, R., & Rivero, J. D. (2025) · Cancers · doi:10.3390/cancers17223632 · Cited by 11
“…involving base-excision or homologous recombination genes; (3) activation of the PI3K–mTOR signaling axis through loss of PTEN or DEPDC5, or via activating mutations in PIK3CA, TSC1, or TSC2; and (4) abnormalities in telomere maintenance, particularly associated with DAXX or ATRX loss [29].”
Molecular profiling of pancreatic neuroendocrine tumors (pNETS) and the clinical potential
Camilli, M., Papadimitriou, K., Nogueira, A., Incorvaia, L., Galvano, A., D’Antonio, F., Ferri, J., Santini, D., Silvestris, N., Russo, A. D., et al. (2018) · Expert Review of Gastroenterology & Hepatology · doi:10.1080/17474124.2018.1463157 · Cited by 11
“The proof that probably the main information on pNETs pathogenesis is still hidden is given by recent discoveries, thanks to whole-genome profiling, performed on a large number of primary tumor samples; this assertion is applicable mainly for sporadic forms of these neoplasms, for which a clear pathological frame is n…”
BackgroundSun, H., Chen, G., Guo, B., Lv, S., & Yuan, G. (2023) · Journal of Cancer · doi:10.7150/jca.80097 · Cited by 11
“With a 60% death rate, panNETs are the second most prevalent pancreatic epithelial tumors [132, 133].”
BackgroundMetabolism of pancreatic neuroendocrine tumors: what can omics tell us?
Jannin, A., Dessein, A., Cao, C. D., Vantyghem, M., Chevalier, B., SEUNINGEN, I. V., Jonckheere, N., & Coppin, L. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1248575 · Cited by 12
Jiang, Y., Dong, Y.-H., Zhao, S., Liu, D.-Y., Zhang, J., Xu, X., Chen, H., Chen, H., & Jin, J. (2024) · Cell Communication and Signaling · doi:10.1186/s12964-024-01545-6 · Cited by 11
“While prior studies have predominantly focused on single lesions, offering limited insight into spatial heterogeneity and evolutionary patterns of PanNETs, our study employs MRS-WES, providing a pioneering and comprehensive exploration of these critical aspects [9–12 , 28 ].”
BackgroundResultInfluentialTanaka, A., Ogawa, M., Zhou, Y., Otani, Y., Hendrickson, R. C., Miele, M. M., Li, Z., Klimstra, D. S., Wang, J. Y., & Roehrl, M. H. A. (2024) · iScience · doi:10.1016/j.isci.2024.110544 · Cited by 14
“Unsupervised uniform manifold approximation and projection (UMAP) of the proteome data showed a clear separation between PanNETs, PDACs, and normal pancreatic tissues (Figure S1B).”
InfluentialSpinal Cord Astroblastoma With EWSR1-BEND2 Fusion in Female Patients
Fu, L., Lao, I. W., Huang, L., Ou, L., Yuan, L., Li, Z., Li, S., Hu, W., & Xi, S. (2024) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002298 · Cited by 11
Kasai, Y., Ito, T., Masui, T., Nagai, K., Anazawa, T., Uchida, Y., Ishii, T., Umeshita, K., Eguchi, S., Soejima, Y., et al. (2024) · Journal of Gastroenterology · doi:10.1007/s00535-024-02166-z · Cited by 11
“Since mTOR signaling is one of the key pathways in NEN [56] and everolimus has been shown to reduce the risk of progression or death in unresectable progressive NEN [32, 33], everolimus can be expected to have a preventive effect against recurrence as well as immunosuppression.”
An Update on Gastroenteropancreatic Neuroendocrine Neoplasms: From Mysteries to Paradigm Shifts
Ramírez‐Rentería, C., Ferreira‐Hermosillo, A., Marrero–Rodríguez, D., Taniguchi‐Ponciano, K., Melgar, V., & Mercado, M. (2020) · Archives of Medical Research · doi:10.1016/j.arcmed.2020.06.018 · Cited by 11
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“There was no mutation in the CDKN1B gene (classical in small-bowel NETs [11]), nor in theMEN1,DAXX or ATRX genes (classical in pancreatic NETs [9]).”
BackgroundNeuroendocrine Neoplasms of the Pancreas: Diagnostic Challenges and Practical Approach
Alipour, Z., Sweeney, J. R., Zhang, Q., & Yang, Z. (2022) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000369 · Cited by 11
Genetics of Pancreatic Neuroendocrine Tumors
Mohindroo, C., McAllister, F. M., & Jesus‐Acosta, A. D. (2022) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2022.07.005 · Cited by 12
Recent progress of experimental model in pancreatic neuroendocrine tumors: drawbacks and challenges
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“Activation of the mTOR signaling pathway occurs in approximately 14% of pNETs and is associated with poor prognosis [43].”
BackgroundMolecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases
Guo, Y., Tian, C., Cheng, Z., Chen, R., Li, Y., Su, F., Shi, Y., & Tan, H. (2023) · Neuroendocrinology · doi:10.1159/000530968 · Cited by 11
A phase II study of bevacizumab and temsirolimus in advanced extra-pancreatic neuroendocrine tumors
Abuzakhm, S. M., Sukrithan, V., Fruth, B. F., Qin, R., Strosberg, J., Hobday, T. J., Semrad, T. J., Reidy‐Lagunes, D. L., Kindler, H. L., Kim, G. P., et al. (2023) · Endocrine Related Cancer · doi:10.1530/erc-22-0301 · Cited by 11
Advances in the cytologic diagnosis of gastroenteropancreatic neuroendocrine neoplasms
Sigel, C. (2018) · Cancer Cytopathology · doi:10.1002/cncy.22073 · Cited by 11
“Germline mutations of MEN1, von HippelLindau tumor suppressor (VHL), cyclin-dependent kinase inhibitor 2B (CDKN1B), mutY DNA glycosylase (MUTYH ), checkpoint kinase 2 (CHEK2), and BRCA have been reported in neuroendocrine tumors.(54)”
BackgroundHormones Secretion and Rho GTPases in Neuroendocrine Tumors
Streit, L., Brunaud, L., Vitale, N., Ory, S., & Gasman, S. (2020) · Cancers · doi:10.3390/cancers12071859 · Cited by 11
A tool to predict survival in stage IV entero-pancreatic NEN
Tarquini, M., Ambrosio, M. R., Albertelli, M., de Souza, P. B., Gafà, R., Gagliardi, I., Carnevale, A., Franceschetti, P., & Zatelli, M. C. (2020) · Journal of Endocrinological Investigation · doi:10.1007/s40618-020-01404-4 · Cited by 11
Briest, F., Koziolek, E. J., Albrecht, J., Schmidt, F., Bernsen, M. R., Haeck, J. C., Kühl, A. A., Sedding, D., Hartung, T., Exner, S., et al. (2020) · Neoplasia · doi:10.1016/j.neo.2020.11.004 · Cited by 11
“However, here is still a great need for treatment options for G3 NETs (which proliferate ast and show better-differentiated morphology).”
BackgroundInfluentialGenetic Drivers of Ileal Neuroendocrine Tumors
Carpizo, D. R., & Harris, C. R. (2021) · Cancers · doi:10.3390/cancers13205070 · Cited by 11
Tanaka, M. H., Shinozaki‐Ushiku, A., Kunita, A., Yasunaga, Y., Akamatsu, N., Hasegawa, K., & Ushiku, T. (2022) · Pathology International · doi:10.1111/pin.13252 · Cited by 11
“Scarpa reported only three of 98 cases of pancreatic NET harboring TP53 mutation in their whole‐genome sequencing study.(6) However, because two of the three cases had mutations in both TP53 and RB1 but not in ATRX, DAXX, or MEN1, these cases were biologically likely to be NEC rather than NET.”
BackgroundNovel therapeutic approaches in GEP-NETs based on genetic and epigenetic alterations
Pozas, J., Alonso‐Gordoa, T., Román, M. S., Santoni, M., Thirlwell, C., Grande, E., & Molina‐Cerrillo, J. (2022) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2022.188804 · Cited by 12
Bollard, J., Patte, C., Massoma, P., Goddard, I., Gadot, N., Benslama, N., Hervieu, V., Ferraro‐Peyret, C., Cordier–Bussat, M., Scoazec, J., et al. (2017) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-17-0325 · Cited by 11
An update on the management of pancreatic neuroendocrine tumors
Gao, L., Natov, N. S., Daly, K. P., Masud, F., Chaudhry, S., Sterling, M. J., & Saif, M. W. (2018) · Anti-Cancer Drugs · doi:10.1097/cad.0000000000000633 · Cited by 11
Domenico, A. D., Pipinikas, C., Maire, R., Bräutigam, K., Simillion, C., Dettmer, M. S., Vassella, E., Thirlwell, C., Perren, A. A., & Marinoni, I. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.04.08.029785 · Cited by 11
Generalising uncertainty improves accuracy and safety of deep learning analytics applied to oncology
MacDonald, S., Foley, H., Yap, M., Johnston, R. L., Steven, K., Koufariotis, L. T., Sharma, S., Wood, S., Addala, V., Pearson, J. V., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-31126-5 · Cited by 12
“Three independent datasets were used: our own independent Internal Custom Dataset, ICD 34–42 , TCGA 31 , and Met500 33 .”
MethodSelf-citationGastrointestinal cancer: molecular pathogenesis and targeted therapy
Jin, Y., He, X., & Wu, Y. (2025) · Molecular Biomedicine · doi:10.1186/s43556-025-00361-9 · Cited by 13
“…in DAXX (death domain associated protein) or ATRX (alpha thalassemia/mental retardation syndrome X-Linked) and genes in the mTOR pathway [56, 57]; small intestinal NENs typically lack these pancreatic-associated mutations and are instead closely linked to CDKN1B (cyclin dependent kinase…”
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
Vallera, R. D., Ding, Y., Hatanpaa, K. J., Bishop, J. A., Mirfakhraee, S., Alli, A. A., Tevosian, S. G., Tabebi, M., Gimm, O., Söderkvist, P., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1024108 · Cited by 11
Ghabi, E. M., Habib, J. R., Shoucair, S., Javed, A. A., Sham, J. G., Burns, W. R., Cameron, J. L., Ali, S. Z., Shin, E. J., Arcidiacono, P. G., et al. (2023) · Annals of Surgical Oncology · doi:10.1245/s10434-023-13965-8 · Cited by 10
Self-citationLung NETs and GEPNETs: One Cancer with Different Origins or Two Distinct Cancers?
Evangelou, G., Vamvakaris, I. N., Papafili, A., Anagnostakis, M., & Peppa, Μ. (2024) · Cancers · doi:10.3390/cancers16061177 · Cited by 10
“Gene expression studies have also identified specific subgroups of GEP-NETs that are associated with hypoxia and HIF signaling pathways [14].”
BackgroundAndersen, K. Ø., Detlefsen, S., Brusgaard, K., & Christesen, H. T. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1351624 · Cited by 11
“Of the six patients with germline MUTYH variants, three of the variants were predicted as pathogenic (13).”
BackgroundMethodInfluentialMattiolo, P., Bevere, M., Mafficini, A., Verschuur, A. V. D., Calicchia, M., Hackeng, W. M., Simbolo, M., Paiella, S., Dreijerink, K. M. A., Landoni, L., et al. (2024) · Endocrine Pathology · doi:10.1007/s12022-024-09826-z · Cited by 10
Self-citationPreoperative Fasting and General Anaesthesia Alter the Plasma Proteome
Gyllensten, U. B., Enroth, S. B., Stålberg, K., Sundfeldt, K., & Enroth, S. (2020) · Cancers · doi:10.3390/cancers12092439 · Cited by 10
Drug Development in Neuroendocrine Tumors: What Is on the Horizon?
García‐Álvarez, A., Cubero, J. H., & Capdevila, J. (2021) · Current Treatment Options in Oncology · doi:10.1007/s11864-021-00834-3 · Cited by 10
Diagnosis in Neuroendocrine Neoplasms: From Molecular Biology to Molecular Imaging
Kopp, R. M., Espinosa-Olarte, P., & Alonso‐Gordoa, T. (2022) · Cancers · doi:10.3390/cancers14102514 · Cited by 9
Lou, X., Gao, H., Xu, X., Zeng, Y., Zhang, W., Wang, F., Chen, J., Zhang, Y., Chen, X., Qin, Y., et al. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.808448 · Cited by 10
Thymidylate synthase accelerates Men1-mediated pancreatic tumor progression and reduces survival
Vijayakurup, V., Maeng, K., Lee, H. S., Meyer, B. S., Burkett, S. S., Nawab, A., Dougherty, M. W., Jobin, C., Mahmud, I., Garrett, T. J., et al. (2022) · JCI Insight · doi:10.1172/jci.insight.147417 · Cited by 10
“Similarly, the occurrence of chromosomal translocation T(5; 3) was detected in three different clones of MEF-TS/Men1-/- cells (70% of TS2-2 cells, 70% of TS2-3 cells and 50% of TS2-4 cells), and only in a single clone of control MEF-V/Men1/- cells (10% of V2-2) (Figure 6H and Supplemental Tables 4 and 5).”
BackgroundInfluentialThe Quest for Circulating Biomarkers in Neuroendocrine Neoplasms: a Clinical Perspective
Mariën, L., Islam, O., Chhajlani, S., Lybaert, W., Peeters, M., Camp, G. V., de Beeck, K. O., & Vandamme, T. (2023) · Current Treatment Options in Oncology · doi:10.1007/s11864-023-01147-3 · Cited by 10
“Multiple studies already demonstrated that the transcriptome in NENs is altered [73, 74].”
Wang, K., Schober, L., Fischer, A., Bechmann, N., Maurer, J., Peischer, L., Reul, A., Hantel, C., Reincke, M., Beuschlein, F., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae241 · Cited by 10
Wagener, N., Buchholz, M., Bertolino, P., Zhang, C. X., & Fazio, P. D. (2021) · APOPTOSIS · doi:10.1007/s10495-021-01700-1 · Cited by 10
“It has been shown that MEN1 is implicated in the regulation of factors involved in several cellular processes, e,g, cell proliferation, differentiation and death [3, 7].”
BackgroundWhole-exome sequencing of rectal neuroendocrine tumors
Li, Y., Guo, Y., Cheng, Z., Tian, C., Chen, Y., Chen, R., Yu, F., Shi, Y., Su, F., Zhao, S., et al. (2023) · Endocrine Related Cancer · doi:10.1530/erc-22-0257 · Cited by 10
Lim, K. H. J., Raja, H., d’Arienzo, P. D., Barriuso, J., McNamara, M. G., Hubner, R. A., Mansoor, W., Valle, J. W., & Lamarca, Á. (2019) · Neuroendocrinology · doi:10.1159/000504256 · Cited by 10
Long noncoding RNA‐mRNA expression profiles and validation in pancreatic neuroendocrine neoplasms
Ji, M., Tang, L. V., Ding, R., Shi, L., Liu, A., Chen, D., & Shao, C. (2020) · Clinical Endocrinology · doi:10.1111/cen.14156 · Cited by 9
Zhou, W., Han, X., Ji, Y., Wang, D., Xie, D., Qiu, Z., & Lou, W. (2022) · HepatoBiliary Surgery and Nutrition · doi:10.21037/hbsn-21-413 · Cited by 9
“…somatic inactivation of MEN1 has also been discovered in 25–44% of the sporadic cases, which plays a central role in interacting with the four well-known pathways altered in pNETs, including chromatin remodeling, telomere alteration, DNA damage repair, and mTOR signaling pathway (5,6,26).”
Gastroenteropancreatic neuroendocrine tumors: Epigenetic landscape and clinical implications
McMurry, H. S., Rivero, J. D., Chen, E. Y.-S., Kardosh, A., Lopez, C. D., & Pegna, G. J. (2024) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2024.101131 · Cited by 11
Molecular Basis of Pancreatic Neuroendocrine Tumors
Maluchenko, A., Maksimov, D. O., Antysheva, Z., Krupinova, J. A., Avsievich, E. S., Glazova, O., Бодунова, Н. А., Karnaukhov, N., Feidorov, I. Y., Salimgereeva, D. A., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252011017 · Cited by 11
“…somatic mutations are found in PIK3CA (encoding a catalytic subunit of phosphatidylinositol 3-kinase), negative regulators of the mTOR pathway (PTEN, TSC2, TSC1), DEPDC5 encoding a subunit of an mTOR suppressor complex, and FLCN encoding a positive modulator of mTORC1 activity [30,32,38,57].”
BackgroundInfluentialVeld, B. R. V. ‘., Hackeng, W. M., Luchini, C., Brosens, L. A. A., & Dreijerink, K. M. A. (2025) · Endocrine Pathology · doi:10.1007/s12022-025-09848-1 · Cited by 10
“Among three additional reported VIPomas that were tested regarding ARTX/ DAXX status, one was found to carry a DAXX mutation [18, 43, 44].”
InfluentialWood, M. A., Nichols, C. T., Hutchings, D., Bell, D., Wald, A. I., Smith, K., Hong, S., Luchini, C., Brosens, L. A. A., Verschuur, A. V. D., et al. (2025) · Modern Pathology · doi:10.1016/j.modpat.2025.100863 · Cited by 10
“7,25 Moreover, the identification of BEND2 fusion genes in our study was mutually exclusive of ATRX/DAXX loss by immunohistochemistry and the presence of ALT by chromogenic in situ hybridization, suggesting that BEND2 fusion genes play a role in the metastatic progression of NF-PanNETs.”
Self-citationExtended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group
D’Ambrosio, L., Sbaraglia, M., Merlini, A., Rabino, M., Grignani, G., Appolloni, V., Badalamenti, G., Baldi, G. G., Bellan, E., Benelli, M., et al. (2025) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2025.104960 · Cited by 9
“This promiscuity challenges the interpretation of genomic profiles, leading to potential misdiagnoses and incorrect treatment if morphology and IHC are not carefully evaluated (Scarpa et al., 2017).”
Concept of neuroendocrine neoplasms of all organs with a focus on grading, subtyping
Kasajima, A., Perren, A., & Klöppel, G. (2026) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-025-04296-y · Cited by 10
Song, Y., Xu, J., Zhao, D., Zhang, T., Jin, K., Zhu, L.-M., Yu, S., & Chen, Y. (2021) · Endocrine Practice · doi:10.1016/j.eprac.2021.02.016 · Cited by 9
Ribociclib and everolimus in well-differentiated foregut neuroendocrine tumors
Raj, N. P., Zheng, Y., Hauser, H. F., Chou, J. F., Rafailov, J., Ayache, J. B., Sawan, P., Chaft, J. E., Chan, J. A., Perez, K. J., et al. (2021) · Endocrine Related Cancer · doi:10.1530/erc-20-0446 · Cited by 9
Lamarca, Á., Frizziero, M., Barriuso, J., Kapacee, Z. A., Mansoor, W., McNamara, M. G., Hubner, R. A., & Valle, J. W. (2022) · Cancers · doi:10.3390/cancers14041017 · Cited by 9
“, TP53, CDKN2A, CHEK2, PALB2) is a recurrent, critical biological vulnerability of WdNETs [5], highlighting the rationale for its therapeutic exploitation.”
BackgroundHeaphy, C. M., & Singhi, A. D. (2023) · Human Pathology · doi:10.1016/j.humpath.2023.01.004 · Cited by 9
Metadata
- 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
- Published
- 2017-02-15
- Volume
- 543
- Issue
- 7643
- Pages
- 65-71
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- 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
- 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
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