Glucagon-Producing Pancreatic Neuroendocrine Tumors (Glucagonomas) are Enriched in Aggressive Neoplasms with ARX and PDX1 Co-expression, DAXX/ATRX Mutations, and ALT (Alternative Lengthening of Telomeres)

Rindi G, Mete O, Uccella S, Basturk O, La Rosa S, Brosens LAA, Ezzat S, de Herder WW, Klimstra DS, Papotti M, Asa SL (2022). Overview of the 2022 WHO Classification of Neuroendocrine Neoplasms. Endocr Pathol 33(1):115-154. https://doi.org/10.1007/s12022-022-09708-2

Article  CAS  PubMed  Google Scholar 

Massironi S (2024). The diagnostic challenges of functioning neuroendocrine tumors: balancing accuracy, availability, and personalized care. Expert Rev Endocrinol Metab 19(2):99-101. https://doi.org/10.1080/17446651.2024.2320639

Article  CAS  PubMed  Google Scholar 

Bevere M, Gkountakos A, Martelli FM, Scarpa A, Luchini C, Simbolo M (2023). An insight on functioning pancreatic neuroendocrine neoplasms. Biomedicines 2023 21;11(2):303. https://doi.org/10.3390/biomedicines11020303

Hofland J, Falconi M, Christ E, Castaño JP, Faggiano A, Lamarca A, Perren A, Petrucci S, Prasad Vikas, Rusznieski P, Thirlwell C, Vullierme M, Welin S, Bartsch D (2023). European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes. J Neuroendocrinol 35(8):e13318. https://doi.org/:https://doi.org/10.1111/jne.13318

Alvarez M, Almanzar A, Sanabria F, Meneses G, Velasquez L, Zarate L (2020). Manifestations of glucagonoma syndrome. AACE Clin Case Rep 3;6(1):e46-e49. https://doi.org/10.4158/ACCR-2019-0211

Perrier M, Brugel M, Gérard L, Goichot B, Lièvre A, Lepage C, Hautefeuille V, Do Cao C, Smith D, Thuillier P, Cros J, Cadiot G, Walter T, de Mestier L (2023). Characteristics and treatment options of glucagonomas: a national study from the French Group of Endocrine Tumors and ENDOCAN-RENATEN network. Eur J Endocrinol 6;189(6):575–583. https://doi.org/10.1093/ejendo/lvad157

Hackeng WM, Brosens LAA, Dreijerink KMA (2023). Aggressive versus indolent insulinomas: new clinicopathological insights. Endocr Relat Cancer 27;30(5):e220321. https://doi.org/10.1530/ERC-22-0321

Hackeng WM, Schelhaas W, Morsink FHM, Heidsma CM, van Eeden S, Valk GD, Vriens MR, Heaphy CM, Nieveen van Dijkum EJM, Offerhaus GJA, et al (2020). Alternative lengthening of telomeres and differential expression of endocrine transcription factors distinguish metastatic and non-metastatic insulinomas. Endocr Pathol 31(2):108-118. https://doi.org/10.1007/s12022-020-09611-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lawlor RT, Daprà V, Girolami I, Pea A, Pilati C, Nottegar A, Piccoli P, Parolini C, Sperandio N, Capelli P, Scarpa A, Luchini C (2019). CD200 expression is a feature of solid pseudopapillary neoplasms of the pancreas. Virchows Arch 474(1):105-109. https://doi.org/10.1007/s00428-018-2437-7

Article  CAS  PubMed  Google Scholar 

Luchini C, Parcesepe P, Nottegar A, Parolini C, Mafficini A, Remo A, Chilosi M, Manfrin E (2016). CD71 in gestational pathology: a versatile immunohistochemical marker with new possible applications. Appl Immunohistochem Mol Morphol 24(3):215-20. https://doi.org/10.1097/PAI.0000000000000175

Article  CAS  PubMed  Google Scholar 

Hackeng WM, Brosens LAA, Kim JY, O'Sullivan R, Sung YN, Liu TC, Cao D, Heayn M, Brosnan-Cashman J, An S, et al (2022). Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size. Gut 71(5):961-973. https://doi.org/10.1136/gutjnl-2020-322595

Article  CAS  PubMed  Google Scholar 

Mafficini A, Lawlor RT, Ghimenton C, Antonello D, Cantù C, Paolino G, Nottegar A, Piredda ML, Salvia R, Milella M, Dei Tos AP, Fassan M, Scarpa A, Luchini C (2021). Solid pseudopapillary neoplasm of the pancreas and abdominal desmoid tumor in a patient carrying two different BRCA2 germline mutations: new horizons from tumor molecular profiling. Genes (Basel) 12(4):481. https://doi.org/10.3390/genes12040481

Article  CAS  PubMed  Google Scholar 

Lawlor RT, Mafficini A, Sciammarella C, Cantù C, Rusev BC, Piredda ML, Antonello D, Grimaldi S, Bonizzato G, Sperandio N, et al (2021). Genomic characterization of hepatoid tumors: context matters. Hum Pathol 118:30-41. https://doi.org/10.1016/j.humpath.2021.09.006

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405-24. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Díaz-Gay M, Vila-Casadesús M, Franch-Expósito S, Hernández-Illán E, Lozano JJ, Castellví-Bel S (2018). Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples. BMC Bioinformatics 14;19(1):224. https://doi.org/10.1186/s12859-018-2234-y

Tamura A, Ogasawara T, Fujii Y, Kaneko H, Nakayama A, Higuchi S, Hashimoto N, Miyabayashi Y, Fujimoto M, Komai E, et al (2018). Glucagonoma with necrolytic migratory erythema: metabolic profile and detection of biallelic inactivation of DAXX gene. J Clin Endocrinol Metab 103(7):2417-2423. https://doi.org/10.1210/jc.2017-02646

Article  PubMed  Google Scholar 

Luna IE, Monrad N, Binderup T, Boisen Thoegersen C, Hilsted L, Jensen C, Federspiel B, Knigge U (2015). Somatostatin-immunoreactive pancreaticoduodenal neuroendocrine neoplasms: twenty-three cases evaluated according to the WHO 2010 classification. Neuroendocrinology. 103(5):567-77. https://doi.org/10.1159/000441605

Article  CAS  PubMed  Google Scholar 

Konukiewitz B, Enosawa T, Klöppel G (2011). Glucagon expression in cystic pancreatic neuroendocrine neoplasms: an immunohistochemical analysis. Virchows Arch 458(1):47-53. https://doi.org/10.1007/s00428-010-0985-6

Article  CAS  PubMed  Google Scholar 

Song X, Zheng S, Yang G, Xiong G, Cao Z, Feng M, Zhang T, Zhao Y (2018). Glucagonoma and the glucagonoma syndrome. Oncol Lett 15(3):2749-2755. https://doi.org/10.3892/ol.2017.7703

Article  PubMed  Google Scholar 

Segerstolpe Å, Palasantza A, Eliasson P, Andersson EM, Andréasson AC, Sun X, Picelli S, Sabirsh A, Clausen M, Bjursell MK, et al (2016). Single-cell transcriptome profiling of human pancreatic islets in health and type 2 diabetes. Cell Metab 24(4):593-607. https://doi.org/10.1016/j.cmet.2016.08.020

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baron M, Veres A, Wolock SL, Faust AL, Gaujoux R, Vetere A, Ryu JH, Wagner BK, Shen-Orr SS, Klein AM, Melton DA, Yanai I (2016). A single-cell transcriptomic map of the human and mouse pancreas reveals inter- and intra-cell population structure. Cell Syst 3(4):346-360.e4. https://doi.org/10.1016/j.cels.2016.08.011

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paller CJ, Tukachinsky H, Maertens A, Decker B, Sampson JR, Cheadle JP, Antonarakis ES (2024). Pan-cancer interrogation of MUTYH variants reveals biallelic inactivation and defective base excision repair across a spectrum of solid tumors. JCO Precis Oncol 8:e2300251. https://doi.org/10.1200/PO.23.00251

Article  PubMed  PubMed Central  Google Scholar 

Marcus L, Fashoyin-Aje LA, Donoghue M, Yuan M, Rodriguez L, Gallagher PS, Philip R, Ghosh S, Theoret MR, Beaver JA, Pazdur R, Lemery SJ (2021). FDA approval summary: pembrolizumab for the treatment of tumor mutational burden-high solid tumors. Clin Cancer Res 27(17):4685-4689. https://doi.org/10.1158/1078-0432.CCR-21-0327

Article  CAS  PubMed  PubMed Central  Google Scholar 

Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, et al (2017). Whole-genome landscape of pancreatic neuroendocrine tumours. Nature 543(7643):65-71. https://doi.org/10.1038/nature24026.

Article  CAS  PubMed  Google Scholar 

留言 (0)

沒有登入
gif