Молекулярный профиль нейроэндокринных опухолей

Молекулярный профиль нейроэндокринных опухолей

Автор: Исянгулова А.З., Гордиев М.Г.

Журнал: Злокачественные опухоли @malignanttumors

Статья в выпуске: 3S1 т.12, 2022 года.

Бесплатный доступ

Рост заболеваемости нейроэндокринными опухолями увеличивает интерес к изучению генетического ландшафта новообразований. В большей степени нейроэндокринные опухоли (НЭО) исследованы в контексте наследственных генетических синдромов, включая гены, такие как MEN1, VHL, TSC1 / TSC2, NF1 и CDKN1B. Взаимосвязь между наследственными (генеративными) мутациями в генах системы репараций ДНК и нейроэндокринными опухолями на сегодня практически не изучена. В условиях ГАУЗ «Республиканский клинический онкологический диспансер Министерства здравоохранения Республики Татарстан имени профессора М. З. Сигала» был изучен молекулярный профиль пациентов с диагнозом «нейроэндокринная опухоль» в зависимости от наследственного анамнеза. В проведенном исследовании у каждого четвертого пациента обнаруживались патогенные мутации. У 33 % пациентов при наличии наследственного анамнеза выявлены патогенные, либо условно-патогенные мутации

Еще

Нейроэндокринные, опухоли, карциноид, молекулярный профиль, генетические исследования, мутация, секвенирование

Короткий адрес: https://sciup.org/140295811

IDR: 140295811   |   DOI: 10.18027/2224-5057-2022-12-3s1-9-16

Список литературы Молекулярный профиль нейроэндокринных опухолей

  • One hundred years after carcinoid : epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States. / J.C. Yao, M. Hassan, A. Phan [et al.] // Clin Oncol .- 2008 .- Vol. 26 .- Р. 3063-3072.
  • Incidence of gastroenteropancreatic neuroendocrine tumours : a systematic review of the literature. / M. Fraenkel, M. Kim, A. Faggiano [et al.] // Endocr Relat Cancer .- 2014 .- Vol. 21 .- Р. 153-163.
  • Trends in the Incidence, Prevalence, and Survival Outcomes in Patients With Neuroendocrine Tumors in the United States. / A. Dasari, C. Shen, D. Halperin [et al.] // JAMA Oncol .- 2017 .- Vol. 3, № 10 .- Р.1335-1342. https://doi.org/10.1001/jamaoncol.2017.0589.
  • MicroRNA expression abnormalities in pancreatic endocrine and acinar tumors are associated with distinctive pathologic features and clinical behavior. / C. Roldo, E. Missiaglia, J.P. Hagan [et al.] // Clin Oncol .- 2006 .- Vol. 24, № 29 .- Р. 4677-4684.
  • Papadopoulos N. DAXX / ATRX, MEN1 and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. / Y. Jiao, C. Shi, B.H. Edil [et al.] // Science .- 2011 .- Vol. 331, № 6021 .- Р.1199-1203.
  • The genomic landscape of small intestine neuroendocrine tumors. / M.S. Banck, R. Kanwar, A.A. Kulkarni [et al.] // Clin Invest .- 2013 .- Vol. 123, № 6 .- Р. 2502-2508.
  • Somatic mutation of CDKN1B in small intestine neuroendocrine tumors. / J.M. Francis, A. Kiezun, A.H. Ramos [et al.] // Nat Genet .- 2013 - Vol. 45, № 12 .- Р.1483-1486.
  • A cross-species analysis in pancreatic neuroendocrine tumors reveals molecular subtypes with distinctive clinical, metastatic, developmental, and metabolic characteristics. / A. Sadanandam, S. Wullschleger, C.A. Lyssiotis [et al.] // Cancer Discov .- 2015 .- Vol. 5, № 12 .- Р.1296-1313.
  • DNA methylation profiles distinguish different subtypes of gastroenteropancreatic neuroendocrine tumors. / A. How-Kit, E. Dejeux, B. Dousset [et al.] // Epigenomics .- 2015 .- Vol. 7, № 8 .- Р.1245-1258.
  • Prognostic impact of novel molecular subtypes of small intestinal neuroendocrine tumor. / A. Karpathakis, H. Dibra, C. Pipinikas [et al.] // Clin. Cancer Res .- 2016 .- Vol. 22, № 1 .- Р.250-258.
  • Australian Pancreatic Cancer Genome Initiative. Whole-genome landscape of pancreatic neuroendocrine tumours. / A. Scarpa, D.K. Chang, K. Nones [et al.] // Nature .- 2017 .- Vol. 543, № 7643 .- Р.65-71. https://doi.org/10.1038/nature21063.
  • Progressive epigenetic dysregulation in neuroendocrine tumour liver metastases. / A. Karpathakis, H. Dibra, C. Pipinikas [et al.] // Endocr Relat Cancer .- 2017 .- Vol. 24, № 2 .- Р.21-25.
  • Genetic heterogeneity of primary lesion and metastasis in small intestine neuroendocrine tumors. / D. Walter, P.N. Harter, F. Battke [et al.] // Sci Rep .- 2018 .- Vol. 8, № 1 .- Р. 3811.
  • Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. / C. Larsson, B. Skogseid, K. Oberg [et al.] // Nature .- 1988 .- Vol. 332 .- Р.85-87.
  • Stephen J. M. Hereditary Hormone Excess : Genes, Molecular Pathways, and Syndromes. / J. M. Stephen, F. S. William // Endocr Reviews .- Vol. 26, № 5 .- P. 615-661.
  • Binkovitz L.A. Islet cell tumors in von Hippel-Lindau disease : increased prevalence and relationship to the multiple endocrine neoplasias. / L.A. Binkovitz, C.D. Johnson, D.H. Stephens // Am J Roentgenology .- 1990 .- Vol. 155, № 3 .- Р.501-505.
  • Positional cloning of the gene for multiple endocrine neoplasia-type 1. / S.C. Chandrasekharappa, S.C. Guru, P. Manickam [et al.] // Science 276 .- 1997 .- Р.404-407.
  • Oberg K. Genetics and molecular pathology of neuroendocrine gastrointestinal and pancreatic tumors (gastroenteropancreatic neuroendocrine tumors). / K. Oberg. // Curr Opin Endocrinol Diabetes Obes .- 2009 .- Vol. 16 .- Р.72-78. https://doi.org/10.1097/med.0b013e328320d845.
  • Update on the molecular pathogenesis of pancreatic tumors other than common ductal adenocarcinoma. / D. Antonello, S. Gobbo, V. Corbo [et al.] // Pancreatology .- 2009 .- Vol. 9 .- Р.25-33.
  • Эндокринология / Под ред. Н. Лавина .- 2-е изд. Пер. с англ .- Москва : Практика, 1999 .- С. 891-897 .- 1128 с.
  • Pancreatic Neuroendocrine Tumors : Molecular Mechanisms and Therapeutic Targets. / C.K. Maharjan, P.H. Ear, C.G. Tran [et al.] // Cancers (Basel) .- 2021 .- Vol. 13, № 20 .- Р. 5117. https://doi.org/10.3390/cancers13205117.
  • Attenuated expression of menin and p27 (Kip1) in an aggressive case of multiple endocrine neoplasia type 1 (MEN1) associated with an atypical prolactinoma and a malignant pancreatic endocrine tumor. / E. Ishida, M. Yamada, K. Horiguchi [et al.] // Endocr .- 2011 .- Vol.58 .- Р.287-296.
  • Tumor suppressor menin regulates expression of insulin-like growth factor binding protein 2. / P. La, R.W. Schnepp, C.D. Petersen [et al.] // Endocrinology .- 2004 .- Vol. 145, № 7 .- Р. 3443-3450.
  • Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex. / H. Kim, J.E. Lee, E.J. Cho [et al.] // Cancer Research .- 2003 .- Vol. 63, № 19 .- Р. 6135- 6139. PMID:14559791.
  • MEN1 in pancreatic endocrine tumors : analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases. / V. Corbo, I. Dalai, M. Scardoni [et al.] // Endocr Relat Cancer .- 2010 .- Vol. 17, № 3 .- Р.771-783.
  • von Hippel-Lindau disease. / R.R. Lonser, G.M. Glenn, M. Walther [et al.] // Lancet .- 2003 .- Vol. 361, № 9374 .- Р.2059- 2067. https://doi.org/10.1016/S0140-6736(03)13643-4.
  • Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). / J.A. Blansfield, L. Choyke, S.Y. Morita [et al.] // Surgery .- 2007 .- Vol. 142, № 6 .- Р.814-818.
  • Mafficini A. Genetics and Epigenetics of Gastroenteropancreatic Neuroendocrine Neoplasms. / A. Mafficini, A. Scarpa // Endocr Rev .- 2019 .- Vol. 40, № 2 .- Р.506-536.
  • VHL inactivation is an important pathway for the development of malignant sporadic pancreatic endocrine tumors. / A.M. Schmitt, S. Schmid, T. Rudolph [et al.] // Endocr Relat Cancer .- 2009 .- Vol. 16, № 4 .- Р.1219-1227.
  • McClatchey A.I. Neurofibromatosis. / A.I. McClatchey // Annu Rev Pathol .- 2007 .- Vol. 2, № 1 .- Р.191-216.
  • Periampullary and duodenal neoplasms in neurofibromatosis type 1 : two cases and an updated 20-year review of the literature yielding 76 cases. / D. Relles, J. Baek, A. Witkiewicz, C.J. Yeo // Gastrointest Surg .- 2010 .- Vol. 14, № 6 .- Р.1052-1061.
  • Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1. / M. Noë, A. Pea, C. Luchini [et al.] // Mod Pathol .- 2018 .- Vol. 31, № 10 .- Р.1532-1538.
  • Identification and characterization of the tuberous sclerosis gene on chromosome 16. / European Chromosome 16 Tuberous Sclerosis Consortium. // Cell .- 1993 .- Vol. 75, № 7 .- Р.1305- 1315. https://doi.org/10.1016/0092-8674(93)90618-z.
  • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. / M. van Slegtenhorst, R. de Hoogt, C. Hermans [et al.] // Science .- 1997 .- Vol. 277, № 5327 .- Р.805-808.
  • Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature. / N.C. Arva, J.G. Pappas, T. Bhatla [et. al.] // Surg Pathol .- 2012 .- Vol. 36, № 1 .- Р.149-153.
  • The molecular genetics of gastroenteropancreatic neuroendocrine tumors. / M.N. Zikusoka, M. Kidd, G. Eick [et al.] // Cancer .- 2005 .- Vol. 104 .- Р.2292-2309.
  • The evolving (epi) genetic landscape of pancreatic neuroendocrine tumours. / C.P. Pipinikas, A.M. Berner, T. Sposito, C. Thirlwell // Endocr Relat Cancer .- 2019 .- Vol. 26, № 9 .- Р.519-544. https://doi.org/10.1530/ERC-19-0175.
  • High frequency of mutations of the PIK3CA gene in human cancers. / Y. Samuels, Z. Wang, A. Bardelli [et al.] // Science .- 2004 .- Vol. 304 .- Р.554. https://doi.org/10.1126/science.1096502.
  • Well-differentiated pancreatic neuroendocrine tumors : from genetics to therapy. / R.F. de Wilde, B.H. Edil, R.H. Hruban, A. Maitra. // Nat Rev Gastroenterol Hepatol .- 2012 .- Vol. 9, № 4 .- Р.199-208.
  • The high-grade (WHO G3) pancreatic neuroendocrine tumor category is morphologically and biologically heterogenous and includes both well differentiated and poorly differentiated neoplasms. / O. Basturk, Z. Yang, L.H. Tang [et al.] // Am J Surg Pathol .- 2015 .- Vol. 39, № 5 .- Р.683-690. https://doi.org/10.1097/PAS.0000000000000408.
  • Pancreatic endocrine tumors : improved TNM staging and histopathological grading permit a clinically efficient prognostic stratification of patients. / A. Scarpa, W. Mantovani, P. Capelli [et al.] // Mod Pathol .- 2010 .- Vol. 23, № 6 .- Р.824-833.
  • Are G3 ENETS neuroendocrine neoplasms heterogeneous? / F.L. Vélayoudom-Céphise, P. Duvillard, L. Foucan [et al.] // Endocr Relat Cancer .- 2013 .- Vol. 20, № 5 .- Р.649-657.
  • Comprehensive genomic profiles of small cell lung cancer. / J. George, J.S. Lim, S.J. Jang [et al.] // Nature .- 2015 .- Vol. 524, № 7563 .- Р.47-53.
  • Therapeutic priority of the PI3K / AKT / mTOR pathway in small cell lung cancers as revealed by a comprehensive genomic analysis. / S. Umemura, S. Mimaki, H. Makinoshima [et al.] // Thorac Oncol .- 2014 .- Vol. 9, № 9 .- Р.1324-1331.
  • Comprehensive analysis of gene mutation and expression profiles in neuroendocrine carcinomas of the stomach. / R. Makuuchi, M. Terashima, M. Kusuhara [et al.] // Biomed Res. (Aligarh) .- 2017 .- Vol. 38, № 1 .- Р.19-27.
  • Genetic alterations in poorly differentiated endocrine carcinomas of the gastrointestinal tract. / S. Pizzi, C. Azzoni, D. Bassi [et al.] // Cancer .- 2003 .- Vol. 98, № 6 .- Р.1273-1282.
  • Different molecular profiles characterize well-differentiated endocrine tumors and poorly differentiated endocrine carcinomas of the gastroenteropancreatic tract. / D. Furlan, R. Cerutti, S. Uccella [et al.] // Clin Cancer Res .- 2004 .- Vol. 10, № 3 .- Р. 947-957.
  • Carcinogenesis of gastric endocrine cell carcinoma : analysis of histopathology and p53 gene alteration. / K. Nishikura, H. Watanabe, M. Iwafuchi [et al.] // Gastric Cancer .- 2003 .- Vol. 6, № 4 .- Р.203-209.
  • Prognostic relevance of aberrant DNA methylation in g1 and g2 pancreatic neuroendocrine tumors. / M. Stefanoli, S. La Rosa, N. Sahnane [et al.] // Neuroendocrinology .- 2014 .- Vol. 100, № 1 .- Р.26-34.
  • Microsatellite unstable gastrointestinal neuroendocrine carcinomas : a new clinicopathologic entity. / N. Sahnane, D. Furlan, M. Monti [et al.] // Endocr Relat Cancer .- 2015 .- Vol. 22, № 1 .- Р.35-45.
  • Molecular characteristics of colorectal neuroendocrine carcinoma ; similarities with adenocarcinoma rather than neuroendocrine tumor. / N. Takizawa, Y. Ohishi, M. Hirahashi [et al.] // Hum Pathol .- 2015 .- Vol. 46, № 12 .- Р.1890-1900.
  • Concordance of genetic alterations in poorly differentiated colorectal neuroendocrine carcinomas and associated adenocarcinomas. / A.O. Vortmeyer, I.A. Lubensky, M.J. Merino [et al.] // Natl Cancer Inst .- 1997 .- Vol. 89, № 19 .- Р.1448-1453.
  • Colorectal poorly differentiated neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas : insights into the diagnostic immunophenotype, assessment of methylation profile, and search for prognostic markers. / S. La Rosa, A. Marando, D. Furlan [et al.] // Am J Surg Pathol .- 2012 .- Vol. 36, № 4 .- Р.601-611.
  • Loss of heterozygosity in 11q13-14 regions in gastric neuroendocrine tumors not associated with multiple endocrine neoplasia type 1 syndrome / T. D’Adda, G. Keller, C. Bordi, H. Höfler // Lab Invest.- 1999 .- Vol. 79, № 6 .- P. 671-677. PMID:10378509.
  • CpG island methylation in carcinoid and pancreatic endocrine tumors / A.O. Chan, S.G. Kim, A. Bedeir [et al.] // Oncogene .- 2003 .- Vol. 22, № 6 .- P. 924-934.
  • DNA methyltransferases 1, 3a and 3b overexpression and clinical significance in gastroenteropancreatic neuroendocrine tumors. / M.M. Rahman, Z.R. Qian, E.L. Wang [et al.] // Hum Pathol .- 2010 .- Vol. 41 .- Р.1069-1078.
  • Alberto B. Molecular mechanisms of resistance to cetuximab and panitumumab in colorectal cancer. / B. Alberto, S. Salvatore // Clin Oncol .- 2010 .- Vol. 28 .- Р.1254-1261.
  • Small cell and large cell neuroendocrine carcinomas of the pancreas are genetically similar and distinct from well-differentiated pancreatic neuroendocrine tumors. // S. Yachida, E. Vakiani, C.M. White, [et al.] // Am J Surg Pathol .- 2012 .- Vol. 36, № 2 .- Р.173-184.
  • Colorectal poorly differentiated neuroendocrine carcinomas frequently exhibit BRAF mutations and are associated with poor overall survival. / D.C. Olevian, M.N. Nikiforova, S. Chiosea [et al.] // Hum Pathol .- 2016 .- Vol. 49 .- Р.124-134.
  • Molecular characteristics of colorectal neuroendocrine carcinoma ; similarities with adenocarcinoma rather than neuroendocrine tumor / N. Takizawa, Y. Ohishi, M. Hirahashi [et al.] // Hum Pathol .- 2015 .- Vol. 46, № 12 .- Р.1890-1900.
  • Colorectal mixed adenoneuroendocrine carcinomas and neuroendocrine carcinomas are genetically closely related to colorectal adenocarcinomas. / M. Jesinghaus, B. Konukiewitz, G. Keller [et al.] // Mod. Pathol .- 2017 .- Vol. 30, № 4 .- Р.610-619.
  • In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components. / C. Woischke, C.W. Schaaf, H.M. Yang [et al.] // Mod Pathol .- 2017 .- Vol. 30, № 1 .- Р.95-103.
  • Molecular profiling of neuroendocrine malignancies to identify prognostic and therapeutic markers : a Fox Chase Cancer Center Pilot Study. / N. Vijayvergia, P.M. Boland, E. Handorf [et al.] // Br J Cancer .- 2016 .- Vol. 115, № 5 .- Р.564-570.
  • Diagnostic utility of MS-MLPA in DNA methylation profiling of adenocarcinomas and neuroendocrine carcinomas of the colon-rectum. / D. Furlan, N. Sahnane, M. Mazzoni [et al.] // Virchows Arch .- 2013 .- Vol. 462, № 1 .- Р.47-56.
  • Colorectal neuroendocrine carcinomas and adenocarcinomas share oncogenic pathways. A clinico-pathologic study of 12 cases. / R. Karkouche, J.B. Bachet, J. Sandrini [et al.] // Eur J Gastroenterol Hepatol .- 2012 .- Vol. 24, № 12 .- Р.1430-1437.
  • High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors. / S. Ji, W. Yang, J. Liu [et al.] // Pancreatology .- 2018 .- Vol. 18 .- Р.318-327. https://doi.org/10.1016/j.pan.2018.01.006.
  • BRCA-associated pancreatico-biliary neoplasms : Four cases illustrating the emerging clinical impact of genotyping. / M.B. Sharma, A. Carus, L. Sunde [et al.] // Acta Oncol .- 2016 .- Vol. 55 .- Р.377-381. https://doi.org/10.3109/0284186X.2015.1044023.
  • Pancreatic endocrine tumours : mutational and immunohistochemical survey of protein kinases reveals alterations in targetable kinases in cancer cell lines and rare primaries / V. Corbo, S. Beghelli, S. Bersani [et al.] // Ann Oncol .- 2012 .- Vol. 23, № 1 .- P. 127-134.
  • U.S. Phase I First-in-human Study of Taletrectinib (DS6051b / AB-106), a ROS1 / TRK Inhibitor, in Patients with Advanced Solid Tumors / K.P. Papadopoulos, E. Borazanci, A.T. Shaw [et al.] // Clin. Cancer Res .- 2020 .- Vol. 26 .- P. 4785- 4794.
  • Surufatinib in advanced extrapancreatic neuroendocrine tumours (SANET-ep) : A randomised, double-blind, placebo-controlled, phase 3 study. / J. Xu, L. Shen, Z. Zhou [et al.] // Lancet Oncol .- 2020 .- Vol. 21, № 11 .- P.1500-1512.
  • Surufatinib in Advanced Well-Differentiated Neuroendocrine Tumors : A Multicenter, Single-Arm, Open-Label, Phase Ib / II Trial. / J. Xu, J. Li, C. Bai [et al.] // Clin Cancer Res .- 2019 .- Vol. 25 .- P. 3486-3494.
  • Cives, M. Emerging Treatment Options for Gastroenteropancreatic Neuroendocrine Tumors / M. Cives, E. Pelle’, J. Strosberg // J Clin Med .- 2020 .- Vol. 13, № 9 (11) .- P. 3655.
  • Localization of Putative Tumor Suppressor Loci by Genome-wide Allelotyping in Human Pancreatic Endocrine Tumors. / D.C. Chung, S.B. Brown, F. Graeme-Cook [et al.] // Cancer Res .- 1998 .- Vol. 58 .- Р.3706-3711.
  • Mutation and expression analyses reveal differential subcellular compartmentalization of PTEN in endocrine pancreatic tumors compared to normal islet cells. / A. Perren, P. Komminoth, P. Saremaslani [et al.] // Am. J. Pathol .- 2000 .- Vol. 157 .- Р.1097-1103. https://doi.org/10.1016/S0002-9440(10)64624-X.
  • The impact of PD-L1 expression in patients with metastatic GEPNETs. / S.T. Kim, S.Y. Ha, S. Lee [et al.] // J Cancer .- 2016 .- Vol. 7, № 5 .- Р.484-489. https://doi.org/10.7150/jca.13711.
  • Rb Loss and KRAS Mutation Are Predictors of the Response to Platinum-Based Chemotherapy in Pancreatic Neuroendocrine Neoplasm with Grade 3 : A Japanese Multicenter Pancreatic NEN-G3 Study. / S. Hijioka, W. Hosoda, K. Matsuo [et al.] // Clin Cancer Res .- 2017 .- Vol. 23, № 16. Р.4625-4632. https://doi.org/10.1158/1078-0432.CCR-16-3135.
  • Loss of chromatin-remodeling proteins and / or CDKN2A associates with metastasis of pancreatic neuroendocrine tumors and reduced patient survival times. / S. Roy, W.A. LaFramboise, T.C. Liu [et al.] // Gastroenterology .- 2018 .- Vol. 154 .- Р.2060-2063.
  • Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability. / N. Raj, R. Shah, Z. Stadler [et al.] // JCO Precis Oncol .- 2018. PO.17.00267. https://doi.org/10.1200/PO.17.00267.
  • Genomic profiling of NETs : A comprehensive analysis of the RA- DIANT trials. / J. Yao, A. Garg, D. Chen [et al.] // Endocr Relat Cancer .- 2019 .- Vol. 26, № 4 .- Р.391-403. https://doi.org/10.1530/ERC18-0332.
Еще
Статья научная
QR-код для установки приложения SciUp Наведите камеру и скачайте бесплатное приложение SciUp