{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T18:43:46Z","timestamp":1773254626849,"version":"3.50.1"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100005743","name":"Universit\u00e0 Cattolica del Sacro Cuore","doi-asserted-by":"publisher","award":["D1 line R4124501150"],"award-info":[{"award-number":["D1 line R4124501150"]}],"id":[{"id":"10.13039\/501100005743","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["5X1000 202405_INNOVALAGGIO"],"award-info":[{"award-number":["5X1000 202405_INNOVALAGGIO"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"DOI":"10.1007\/s00428-025-04352-7","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T20:33:29Z","timestamp":1764362009000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel HSPA8-NR4A2 rearrangement in extraskeletal myxoid chondrosarcoma: a sarcoma mimicker of neuroendocrine neoplasia"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7307-388X","authenticated-orcid":false,"given":"Sabina","family":"Barresi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1119-4643","authenticated-orcid":false,"given":"Roberto","family":"Passa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6342-065X","authenticated-orcid":false,"given":"Silvia","family":"Vallese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4747-1032","authenticated-orcid":false,"given":"Evelina","family":"Miele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1898-1516","authenticated-orcid":false,"given":"Sara","family":"Patrizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3074-5153","authenticated-orcid":false,"given":"Carla","family":"Rabitti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8222-9025","authenticated-orcid":false,"given":"Bruno","family":"Vincenzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0747-831X","authenticated-orcid":false,"given":"Sergio","family":"Valeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2829-2407","authenticated-orcid":false,"given":"Francesca Diomedi","family":"Camassei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0833-4334","authenticated-orcid":false,"given":"Angelo","family":"Minucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3995-535X","authenticated-orcid":false,"given":"Marco","family":"Pieraccioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2864-8266","authenticated-orcid":false,"given":"Claudio","family":"Sette","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3915-3816","authenticated-orcid":false,"given":"Rita","family":"Alaggio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2996-4404","authenticated-orcid":false,"given":"Guido","family":"Rindi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"key":"4352_CR1","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1016\/j.humpath.2014.01.007","volume":"45","author":"NP Agaram","year":"2014","unstructured":"Agaram NP, Zhang L, Sung YS, Singer S, Antonescu CR (2014) Extraskeletal myxoid chondrosarcoma with non-EWSR1-NR4A3 variant fusions correlate with rhabdoid phenotype and high-grade morphology. Hum Pathol 45:1084\u20131091. https:\/\/doi.org\/10.1016\/j.humpath.2014.01.007","journal-title":"Hum Pathol"},{"key":"4352_CR2","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1038\/s41588-018-0138-4","volume":"50","author":"MJ Alvarez","year":"2018","unstructured":"Alvarez MJ, Subramaniam PS, Tang LH, Grunn A, Aburi M, Rieckhof G, Komissarova EV, Hagan EA, Bodei L, Clemons PA, Dela Cruz FS, Dhall D, Diolaiti D, Fraker DA, Ghavami A, Kaemmerer D, Karan C, Kidd M, Kim KM, Kim HC, Kunju LP, Langel U, Li Z, Lee J, Li H, LiVolsi V, Pfragner R, Rainey AR, Realubit RB, Remotti H, Regberg J, Roses R, Rustgi A, Sepulveda AR, Serra S, Shi C, Yuan X, Barberis M, Bergamaschi R, Chinnaiyan AM, Detre T, Ezzat S, Frilling A, Hommann M, Jaeger D, Kim MK, Knudsen BS, Kung AL, Leahy E, Metz DC, Milsom JW, Park YS, Reidy-Lagunes D, Schreiber S, Washington K, Wiedenmann B, Modlin I, Califano A (2018) A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors. Nat Genet 50:979\u2013989. https:\/\/doi.org\/10.1038\/s41588-018-0138-4","journal-title":"Nat Genet"},{"key":"4352_CR3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2321898121","volume":"121","author":"S Bellone","year":"2024","unstructured":"Bellone S, Jeong K, Halle MK, Krakstad C, McNamara B, Greenman M, Mutlu L, Demirkiran C, Hartwich TMP, Yang-Hartwich Y, Zipponi M, Buza N, Hui P, Raspagliesi F, Lopez S, Paolini B, Milione M, Perrone E, Scambia G, Altwerger G, Ravaggi A, Bignotti E, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz PE, Quick CM, Angioli R, Terranova C, Zaidi S, Nandi S, Alexandrov LB, Siegel ER, Choi J, Schlessinger J, Santin AD (2024) Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proc Natl Acad Sci U S A 121:e2321898121. https:\/\/doi.org\/10.1073\/pnas.2321898121","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4352_CR4","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1002\/humu.24319","volume":"43","author":"J Boni","year":"2022","unstructured":"Boni J, Idani A, Roca C, Feliubadalo L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B (2022) A decade of RAD51C and RAD51D germline variants in cancer. Hum Mutat 43:285\u2013298. https:\/\/doi.org\/10.1002\/humu.24319","journal-title":"Hum Mutat"},{"key":"4352_CR5","doi-asserted-by":"publisher","first-page":"7615","DOI":"10.1007\/s00210-024-03066-y","volume":"397","author":"WR Chao","year":"2024","unstructured":"Chao WR, Lee MY, Sheu GT, Lee YJ, Shen HP, Han CP (2024) HER2 mutations in advanced cervical neuroendocrine carcinoma: implications for trastuzumab deruxtecan therapy. Naunyn Schmiedebergs Arch Pharmacol 397:7615\u20137622. https:\/\/doi.org\/10.1007\/s00210-024-03066-y","journal-title":"Naunyn Schmiedebergs Arch Pharmacol"},{"key":"4352_CR6","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty560","volume":"34","author":"S Chen","year":"2018","unstructured":"Chen S, Zhou Y, Chen Y, Gu J (2018) Fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics 34:i884. https:\/\/doi.org\/10.1093\/bioinformatics\/bty560","journal-title":"Bioinformatics"},{"key":"4352_CR7","doi-asserted-by":"publisher","unstructured":"de Bitter TJJ, Kroeze LI, de Reuver PR, van Vliet S, Vink-Borger E, von Rhein D, Jansen EAM, Nagtegaal ID, Ligtenberg MJL, van der Post RS (2021) Unraveling Neuroendocrine Gallbladder Cancer: Comprehensive Clinicopathologic and Molecular Characterization JCO Precis Oncol 5. https:\/\/doi.org\/10.1200\/PO.20.00487","DOI":"10.1200\/PO.20.00487"},{"key":"4352_CR8","doi-asserted-by":"publisher","DOI":"10.3390\/cancers14246152","author":"L Giaco","year":"2022","unstructured":"Giaco L, Palluzzi F, Guido D, Nero C, Giacomini F, Duranti S, Bria E, Tortora G, Cenci T, Martini M, De Paolis E, Onori ME, De Bonis M, Normanno N, Scambia G, Minucci A (2022) A computational framework for comprehensive genomic profiling in solid cancers: the analytical performance of a high-throughput assay for small and copy number variants. Cancers. https:\/\/doi.org\/10.3390\/cancers14246152","journal-title":"Cancers"},{"key":"4352_CR9","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1007\/s00428-022-03453-x","volume":"482","author":"F Giner","year":"2023","unstructured":"Giner F, Lopez-Guerrero JA, Machado I, Rubio-Martinez LA, Espino M, Navarro S, Agra-Pujol C, Ferrandez A, Llombart-Bosch A (2023) Extraskeletal myxoid chondrosarcoma: p53 and Ki-67 offer prognostic value for clinical outcome - an immunohistochemical and molecular analysis of 31 cases. Virchows Arch 482:407\u2013417. https:\/\/doi.org\/10.1007\/s00428-022-03453-x","journal-title":"Virchows Arch"},{"key":"4352_CR10","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1046\/j.1365-2559.2001.01277.x","volume":"39","author":"YW Goh","year":"2001","unstructured":"Goh YW, Spagnolo DV, Platten M, Caterina P, Fisher C, Oliveira AM, Nascimento AG (2001) Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation. Histopathology 39:514\u2013524. https:\/\/doi.org\/10.1046\/j.1365-2559.2001.01277.x","journal-title":"Histopathology"},{"key":"4352_CR11","doi-asserted-by":"publisher","first-page":"2439","DOI":"10.1038\/nprot.2007.304","volume":"2","author":"L Graham","year":"2007","unstructured":"Graham L, Orenstein JM (2007) Processing tissue and cells for transmission electron microscopy in diagnostic pathology and research. Nat Protoc 2:2439\u20132450. https:\/\/doi.org\/10.1038\/nprot.2007.304","journal-title":"Nat Protoc"},{"key":"4352_CR12","doi-asserted-by":"publisher","first-page":"1020","DOI":"10.1097\/00000478-200007000-00015","volume":"24","author":"M Harris","year":"2000","unstructured":"Harris M, Coyne J, Tariq M, Eyden BP, Atkinson M, Freemont AJ, Varley J, Attwooll C, Telford N (2000) Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a pathologic, cytogenetic, and molecular study of a case with a novel translocation t(9;17)(q22;q11.2). Am J Surg Pathol 24:1020\u20131026. https:\/\/doi.org\/10.1097\/00000478-200007000-00015","journal-title":"Am J Surg Pathol"},{"key":"4352_CR13","unstructured":"Horvai A, Lucas D, Agaram N (2020) Extraskeletal myxoid chondrosarcoma. In: WHO Classification of Tumours Editorial Board. Soft Tissue and Bone Tumours, 5.edn. International Agency for Research on Cancer, Lyon (France), pp. 303\u2013305"},{"key":"4352_CR14","doi-asserted-by":"publisher","DOI":"10.1101\/2025.06.30.25330543","author":"N Jager","year":"2025","unstructured":"Jager N, Reuss DE, Sill M, Schrimpf D, Suwala AK, Sievers P, Banan R, Hinz F, Rahmanzade R, Bogumil H, Aras KF, Patel A, Korshunov A, Bewerunge-Hudler M, Cleven AH, Esteller M, Glimm H, Hartmann W, Kreutzfeld S, Heilig C, Milde T, Petersen I, Vokuhl CM, Wick W, Witt O, Kervarrec T, Miele E, Serrano J, Frank S, Kashofer K, Leer AM, Pfaff E, Pages M, Tauziede-Espariat A, Toberer F, Boldt HB, Martinek P, Brandner S, Euzebio M, Siegfried A, Chalker J, Harter P, Appay R, Dietmaier W, Hasselblatt M, Flucke UE, Hiemcke-Jiwa LS, Solomon D, Frydrychowicz C, Varlet P, Goeppert B, Nathrath M, Blattmann C, Sparber-Sauer M, Kolb A, Mittelbronn M, Mentzel T, Leisz S, Harder A, Acker T, Pratt D, Wardelmann E, Benhamida J, Ladanyi M, Jurmeister P, Foulkes W, Ajuyah P, Ziegler DZ, Hench J, Nederkoorn MJ, Versleijen-Jonkers YM, Mechtersheimer G, Krieg S, Gessler M, Baumhoer D, Behjati S, Bertero L, Griwank K, Schadendorf D, Hogendoorn PC, Emile JF, Kemps PG, Jarosch A, Ronellenfitsch MW, Idler TS, Aust D, Herold S, Pablik J, Al-Hussaini M, Abdullaev Z, Yeung M, Wachtel M, Brack E, Kommoss FK, Miettinen M, Aldape K, Flanagan AM, Dirksen U, Pajtler K, Grunewald TG, Lipka D, Frohling S, Koelsche C, Snuderl M, Capper D, Pfister SM, Jones DT, Sahm F, von Deimling A (2025) Advancing sarcoma diagnostics with expanded DNA methylation-based classification. medRxiv. https:\/\/doi.org\/10.1101\/2025.06.30.25330543","journal-title":"medRxiv"},{"key":"4352_CR15","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1002\/cncr.22948","volume":"111","author":"JD Jakowski","year":"2007","unstructured":"Jakowski JD, Wakely PE Jr. (2007) Cytopathology of extraskeletal myxoid chondrosarcoma: report of 8 cases. Cancer 111:298\u2013305. https:\/\/doi.org\/10.1002\/cncr.22948","journal-title":"Cancer"},{"key":"4352_CR16","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1007\/s00428-021-03156-9","volume":"479","author":"A Kasajima","year":"2021","unstructured":"Kasajima A, Konukiewitz B, Schlitter AM, Weichert W, Brasen JH, Agaimy A, Kloppel G (2021) Mesenchymal\/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI\/SNF-deficient tumors. Virchows Arch 479:1209\u20131219. https:\/\/doi.org\/10.1007\/s00428-021-03156-9","journal-title":"Virchows Arch"},{"key":"4352_CR17","unstructured":"Mete O, Gill A, Lax S, Lazar A, Klimstra D, Baloch Z, de Krijger R, Erickson L, Ghossein R, Nos\u00e9 V, Osamura R, Papotti M, Sobrinho-Simoes M, Tallini G, Asa S (2025) Introduction to endocrine and neuroendocrine tumours. In: WHO Classification of Tumours Editorial Board. Endocrine and neuroendocrine tumours 5th.edn. International Agency for Research on Cancer, Lyon (France), pp. 28-32"},{"key":"4352_CR18","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21051818","author":"E Miele","year":"2020","unstructured":"Miele E, De Vito R, Ciolfi A, Pedace L, Russo I, De Pasquale MD, Di Giannatale A, Crocoli A, Angelis B, Tartaglia M, Alaggio R, Milano GM (2020) DNA methylation profiling for diagnosing undifferentiated sarcoma with Capicua transcriptional receptor (CIC) alterations. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms21051818","journal-title":"Int J Mol Sci"},{"key":"4352_CR19","doi-asserted-by":"publisher","DOI":"10.3390\/jpm12101746","author":"C Nero","year":"2022","unstructured":"Nero C, Duranti S, Giacomini F, Minucci A, Giaco L, Piermattei A, Genuardi M, Pasciuto T, Urbani A, Daniele G, Lorusso D, Pignataro R, Tortora G, Normanno N, Scambia G (2022) Integrating a comprehensive cancer genome profiling into clinical practice: a blueprint in an Italian referral center. J Pers Med. https:\/\/doi.org\/10.3390\/jpm12101746","journal-title":"J Pers Med"},{"key":"4352_CR20","unstructured":"NIH (2025) HSPA8 heat shock protein family A (Hsp70) member 8 [ Homo sapiens (human) ]. https:\/\/www.ncbi.nlm.nih.gov\/gene\/3312. Accessed 21\/08\/2025 2025"},{"key":"4352_CR21","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1053\/hupa.2001.28226","volume":"32","author":"S Okamoto","year":"2001","unstructured":"Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H (2001) Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases. Hum Pathol 32:1116\u20131124. https:\/\/doi.org\/10.1053\/hupa.2001.28226","journal-title":"Hum Pathol"},{"key":"4352_CR22","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1038\/modpathol.3880161","volume":"13","author":"AM Oliveira","year":"2000","unstructured":"Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG (2000) Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases. Mod Pathol 13:900\u2013908. https:\/\/doi.org\/10.1038\/modpathol.3880161","journal-title":"Mod Pathol"},{"issue":"1","key":"4352_CR23","doi-asserted-by":"publisher","DOI":"10.1038\/s41698-024-00578-x","volume":"8","author":"L Pedace","year":"2024","unstructured":"Pedace L, Pizzi S, Abballe L, Vinci M, Antonacci C, Patrizi S, Nardini C, Del Bufalo F, Rossi S, Pericoli G, Gianno F, Besharat ZM, Tiberi L, Mastronuzzi A, Ferretti E, Tartaglia M, Locatelli F, Ciolfi A, Miele E (2024) Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling. NPJ Precis Oncol 8(1):92. https:\/\/doi.org\/10.1038\/s41698-024-00578-x","journal-title":"NPJ Precis Oncol"},{"key":"4352_CR24","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26146551","author":"E Perrone","year":"2025","unstructured":"Perrone E, Treglia G, Giancipoli RG, Leccisotti L, Rindi G, Rufini V (2025) In vivo versus in vitro somatostatin receptor expression in neuroendocrine neoplasms: a systematic review and meta-analysis of correlation studies. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms26146551","journal-title":"Int J Mol Sci"},{"key":"4352_CR25","unstructured":"Rindi G, Asa S, Klimstra D, Papotti M (2025) Neuroendocrine neoplasms in non-endocrine organs: introduction. In: WHO Classification of Tumours Editorial Board. Endocrine and Neuroendocrine Tumours, 5th.edn. International Agency for Research on Cancer, Lyon, F, pp. 334\u2013336"},{"key":"4352_CR26","doi-asserted-by":"publisher","first-page":"1770","DOI":"10.1038\/s41379-018-0110-y","volume":"31","author":"G Rindi","year":"2018","unstructured":"Rindi G, Klimstra DS, Abedi-Ardekani B, Asa SL, Bosman FT, Brambilla E, Busam KJ, de Krijger RR, Dietel M, El-Naggar AK, Fernandez-Cuesta L, Kloppel G, McCluggage WG, Moch H, Ohgaki H, Rakha EA, Reed NS, Rous BA, Sasano H, Scarpa A, Scoazec JY, Travis WD, Tallini G, Trouillas J, van Krieken JH, Cree IA (2018) A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal. Mod Pathol 31:1770\u20131786. https:\/\/doi.org\/10.1038\/s41379-018-0110-y","journal-title":"Mod Pathol"},{"key":"4352_CR27","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2025.167827","volume":"1871","author":"A Ruzza","year":"2025","unstructured":"Ruzza A, Zaltron E, Vianello F, Celotti I, Scavezzon M, Severin F, Leanza L (2025) HSPA8 and HSPA9: two prognostic and therapeutic targets in breast, colon, and kidney cancers? Biochim Biophys Acta Mol Basis Dis 1871:167827. https:\/\/doi.org\/10.1016\/j.bbadis.2025.167827","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"4352_CR28","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25031735","author":"C Salguero-Aranda","year":"2024","unstructured":"Salguero-Aranda C, Di Blasi E, Galan L, Zaldumbide L, Civantos G, Marcilla D, de Alava E, Diaz-Martin J (2024) Identification of novel\/rare EWSR1 fusion partners in undifferentiated mesenchymal neoplasms. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms25031735","journal-title":"Int J Mol Sci"},{"key":"4352_CR29","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/nature21063","volume":"543","author":"A Scarpa","year":"2017","unstructured":"Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, Cingarlini S, Vicentini C, McKay S, Quinn MC, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, McLean S, Nourse C, Nourbakhsh E, Wilson PJ, Anderson MJ, Fink JL, Newell F, Waddell N, Holmes O, Kazakoff SH, Leonard C, Wood S, Xu Q, Nagaraj SH, Amato E, Dalai I, Bersani S, Cataldo I, Dei Tos AP, Capelli P, Davi MV, Landoni L, Malpaga A, Miotto M, Whitehall VL, Leggett BA, Harris JL, Harris J, Jones MD, Humphris J, Chantrill LA, Chin V, Nagrial AM, Pajic M, Scarlett CJ, Pinho A, Rooman I, Toon C, Wu J, Pinese M, Cowley M, Barbour A, Mawson A, Humphrey ES, Colvin EK, Chou A, Lovell JA, Jamieson NB, Duthie F, Gingras MC, Fisher WE, Dagg RA, Lau LM, Lee M, Pickett HA, Reddel RR, Samra JS, Kench JG, Merrett ND, Epari K, Nguyen NQ, Zeps N, Falconi M, Simbolo M, Butturini G, Van Buren G, Partelli S, Fassan M, Australian Pancreatic Cancer Genome I, Khanna KK, Gill AJ, Wheeler DA, Gibbs RA, Musgrove EA, Bassi C, Tortora G, Pederzoli P, Pearson JV, Waddell N, Biankin AV, Grimmond SM (2017) Whole-genome landscape of pancreatic neuroendocrine tumours. Nature 543:65\u201371. https:\/\/doi.org\/10.1038\/nature21063","journal-title":"Nature"},{"key":"4352_CR30","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/S0002-9440(10)63875-8","volume":"162","author":"H Sjogren","year":"2003","unstructured":"Sjogren H, Meis-Kindblom JM, Orndal C, Bergh P, Ptaszynski K, Aman P, Kindblom LG, Stenman G (2003) Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analyses. Am J Pathol 162:781\u2013792. https:\/\/doi.org\/10.1016\/S0002-9440(10)63875-8","journal-title":"Am J Pathol"},{"key":"4352_CR31","unstructured":"Solcia E, Capella C, Buffa R, Fiocca R, Frigerio B, Usellini L (1980) Identification, ultrastructure and classification of gut endocrine cells and related growths. Invest Cell Pathol 3:37\u201349"},{"key":"4352_CR32","first-page":"25","volume":"70","author":"E Solcia","year":"1981","unstructured":"Solcia E, Capella C, Buffa R, Usellini L, Fiocca R, Frigerio B, Tenti P, Sessa F (1981) The diffuse endocrine-paracrine system of the gut in health and disease: ultrastructural features. Scand J Gastroenterol Suppl 70:25\u201336","journal-title":"Scand J Gastroenterol Suppl"},{"key":"4352_CR33","unstructured":"Solcia E, Capella C, Buffa R, Usellini L, Frigerio B, Fontana P (1979) Endocrine cells of the gastrointestinal tract and related tumors. Pathobiol Annu 9:163\u2013204"},{"key":"4352_CR34","doi-asserted-by":"publisher","first-page":"26","DOI":"10.48095\/ccko202126","volume":"34","author":"J Soukupova","year":"2021","unstructured":"Soukupova J, Lhotova K, Janatova M, Kleiblova P, Vocka M, Foretova L, Zikan M, Kleibl Z (2021) Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer. Klin Onkol 34:26\u201332. https:\/\/doi.org\/10.48095\/ccko202126","journal-title":"Klin Onkol"},{"key":"4352_CR35","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12092703","author":"S Stacchiotti","year":"2020","unstructured":"Stacchiotti S, Baldi GG, Morosi C, Gronchi A, Maestro R (2020) Extraskeletal myxoid chondrosarcoma: state of the art and current research on biology and clinical management. Cancers (Basel). https:\/\/doi.org\/10.3390\/cancers12092703","journal-title":"Cancers (Basel)"},{"key":"4352_CR36","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1002\/gcc.22462","volume":"56","author":"M Urbini","year":"2017","unstructured":"Urbini M, Astolfi A, Pantaleo MA, Serravalle S, Dei Tos AP, Picci P, Indio V, Sbaraglia M, Benini S, Righi A, Gambarotti M, Gronchi A, Colombo C, Dagrada GP, Pilotti S, Maestro R, Polano M, Saponara M, Tarantino G, Pession A, Biasco G, Casali PG, Stacchiotti S (2017) HSPA8 as a novel fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer 56:582\u2013586. https:\/\/doi.org\/10.1002\/gcc.22462","journal-title":"Genes Chromosomes Cancer"},{"key":"4352_CR37","doi-asserted-by":"publisher","first-page":"1172","DOI":"10.1038\/modpathol.3800954","volume":"20","author":"M Volante","year":"2007","unstructured":"Volante M, Brizzi MP, Faggiano A, La Rosa S, Rapa I, Ferrero A, Mansueto G, Righi L, Garancini S, Capella C, De Rosa G, Dogliotti L, Colao A, Papotti M (2007) Somatostatin receptor type 2A immunohistochemistry in neuroendocrine tumors: a proposal of scoring system correlated with somatostatin receptor scintigraphy. Mod Pathol 20:1172\u20131182. https:\/\/doi.org\/10.1038\/modpathol.3800954","journal-title":"Mod Pathol"},{"key":"4352_CR38","doi-asserted-by":"publisher","first-page":"2712","DOI":"10.1097\/CM9.0000000000002852","volume":"136","author":"S Wang","year":"2023","unstructured":"Wang S, Gu Z, Zhu L, Han Y, Yu H, Fang W, Han B (2023) Genetic insights into thymic carcinomas and thymic neuroendocrine neoplasms denote prognosis signatures and pathways. Chin Med J (Engl) 136:2712\u20132721. https:\/\/doi.org\/10.1097\/CM9.0000000000002852","journal-title":"Chin Med J (Engl)"},{"issue":"12","key":"4352_CR39","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1002\/cac2.12372","volume":"42","author":"H Wu","year":"2022","unstructured":"Wu H, Yu Z, Liu Y, Guo L, Teng L, Guo L, Liang L, Wang J, Gao J, Li R, Yang L, Nie X, Su D, Liang Z (2022) Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract. Cancer Commun (Lond) 42(12):1367\u20131386. https:\/\/doi.org\/10.1002\/cac2.12372","journal-title":"Cancer Commun (Lond)"},{"key":"4352_CR40","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-025-13937-z","volume":"25","author":"X Yin","year":"2025","unstructured":"Yin X, Luo M, Zha X, Duan M, Liu Y (2025) RBMS1-HSPA8 axis activation drives head and neck squamous cell carcinoma progression. BMC Cancer 25:549. https:\/\/doi.org\/10.1186\/s12885-025-13937-z","journal-title":"BMC Cancer"},{"key":"4352_CR41","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1038\/modpathol.2017.189","volume":"31","author":"A Yoshida","year":"2018","unstructured":"Yoshida A, Makise N, Wakai S, Kawai A, Hiraoka N (2018) INSM1 expression and its diagnostic significance in extraskeletal myxoid chondrosarcoma. Mod Pathol 31:744\u2013752. https:\/\/doi.org\/10.1038\/modpathol.2017.189","journal-title":"Mod Pathol"},{"key":"4352_CR42","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1093\/jnci\/djt135","volume":"105","author":"J Zhang","year":"2013","unstructured":"Zhang J, Francois R, Iyer R, Seshadri M, Zajac-Kaye M, Hochwald SN (2013) Current understanding of the molecular biology of pancreatic neuroendocrine tumors. J Natl Cancer Inst 105:1005\u20131017. https:\/\/doi.org\/10.1093\/jnci\/djt135","journal-title":"J Natl Cancer Inst"}],"container-title":["Virchows Archiv"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04352-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00428-025-04352-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04352-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T01:12:00Z","timestamp":1773191520000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00428-025-04352-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,28]]},"references-count":42,"alternative-id":["4352"],"URL":"https:\/\/doi.org\/10.1007\/s00428-025-04352-7","relation":{},"ISSN":["0945-6317","1432-2307"],"issn-type":[{"value":"0945-6317","type":"print"},{"value":"1432-2307","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,28]]},"assertion":[{"value":"15 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 November 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 November 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study did not require ethical approval and was performed in accordance with the Declaration of Helsinki. Written informed consent of the patient was obtained; all reasonable measures were taken to protect patient anonymity.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"GR declares competing interest (Boehringer Ingelheim GmbH and IPSEN Pharma SAS); all the other authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}]}}