{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T12:07:24Z","timestamp":1779451644317,"version":"3.53.1"},"reference-count":79,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Diagnostic Pathology"],"published-print":{"date-parts":[[2026,5]]},"DOI":"10.1016\/j.semdp.2026.151011","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T16:23:37Z","timestamp":1778084617000},"page":"151011","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recent advances in genetic predisposition to primary testicular tumors"],"prefix":"10.1016","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1848-2389","authenticated-orcid":false,"given":"Stephanie E.","family":"Siegmund","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10498","key":"10.1016\/j.semdp.2026.151011_bib0001","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0140-6736(25)00455-6","article-title":"Testicular cancer","volume":"406","author":"Chavarriaga","year":"2025","journal-title":"Lancet"},{"key":"10.1016\/j.semdp.2026.151011_bib0002","series-title":"World Health Organization classification of Tumours","article-title":"Urinary and male genital tumours","author":"Williamson","year":"2022"},{"issue":"2","key":"10.1016\/j.semdp.2026.151011_bib0003","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1002\/ijc.10332","article-title":"Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish Family-Cancer Database","volume":"99","author":"Czene","year":"2002","journal-title":"Int J Cancer"},{"issue":"9","key":"10.1016\/j.semdp.2026.151011_bib0004","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1038\/sj.bjc.6601714","article-title":"Familial risk in testicular cancer as a clue to a heritable and environmental aetiology","volume":"90","author":"Hemminki","year":"2004","journal-title":"Br J Cancer"},{"issue":"4 PART 2","key":"10.1016\/j.semdp.2026.151011_bib0005","article-title":"Genome-wide association studies provide new insights into the genetic basis of testicular germ-cell tumour","volume":"34","author":"Turnbull","year":"2011","journal-title":"Int J Androl"},{"issue":"3","key":"10.1016\/j.semdp.2026.151011_bib0006","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/hmg\/ddi459","article-title":"Genome-wide linkage screen for testicular germ cell tumour susceptibility loci","volume":"15","author":"Crockford","year":"2006","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0007","first-page":"409","article-title":"The genomic landscape of testicular germ cell tumours: from susceptibility to treatment","volume":"13","author":"Litchfield","year":"2016","journal-title":"Nat Rev UrolNat Publ Group"},{"key":"10.1016\/j.semdp.2026.151011_bib0008","doi-asserted-by":"crossref","DOI":"10.1038\/srep13889","article-title":"Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches","volume":"5","author":"Litchfield","year":"2015","journal-title":"Sci Rep"},{"issue":"3","key":"10.1016\/j.semdp.2026.151011_bib0009","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.eururo.2018.05.036","article-title":"Large-scale analysis demonstrates familial testicular cancer to have polygenic aetiology","volume":"74","author":"Loveday","year":"2018","journal-title":"Eur Urol"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0010","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.eururo.2018.01.021","article-title":"Large-scale sequencing of testicular germ cell tumour (TGCT) cases excludes major TGCT predisposition gene","volume":"73","author":"Litchfield","year":"2018","journal-title":"Eur Urol"},{"issue":"13","key":"10.1016\/j.semdp.2026.151011_bib0011","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1093\/hmg\/ddt109","article-title":"Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23","volume":"22","author":"Schumacher","year":"2013","journal-title":"Hum Mol Genet"},{"issue":"3","key":"10.1016\/j.semdp.2026.151011_bib0012","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.ajhg.2025.01.022","article-title":"Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study","volume":"112","author":"Ugalde-Morales","year":"2025","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0013","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1038\/ng.3896","article-title":"Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor","volume":"49","author":"Litchfield","year":"2017","journal-title":"Nat Genet"},{"issue":"8","key":"10.1016\/j.semdp.2026.151011_bib0014","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.1002\/ijc.31604","article-title":"Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer","volume":"143","author":"Paumard-Hern\u00e1ndez","year":"2018","journal-title":"Int J Cancer"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0015","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.eururo.2023.05.008","article-title":"Germline exome sequencing for men with testicular germ cell tumor reveals coding defects in chromosomal segregation and protein-targeting genes","volume":"85","author":"Pyle","year":"2024","journal-title":"Eur Urol"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0016","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/ng.3879","article-title":"Meta- A nalysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor","volume":"49","author":"Wang","year":"2017","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0017","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-021-24334-y","article-title":"Identification of 22 susceptibility loci associated with testicular germ cell tumors","volume":"12","author":"Pluta","year":"2021","journal-title":"Nat Commun"},{"issue":"24","key":"10.1016\/j.semdp.2026.151011_bib0018","doi-asserted-by":"crossref","first-page":"4861","DOI":"10.1242\/dev.02688","article-title":"Steel factor controls midline cell death of primordial germ cells and is essential for their normal proliferation and migration","volume":"133","author":"Runyan","year":"2006","journal-title":"Development"},{"issue":"13","key":"10.1016\/j.semdp.2026.151011_bib0019","doi-asserted-by":"crossref","first-page":"5193","DOI":"10.1158\/0008-5472.CAN-08-0779","article-title":"Loss of the transmembrane but not the soluble kit ligand isoform increases testicular germ cell tumor susceptibility in mice","volume":"68","author":"Heaney","year":"2008","journal-title":"Cancer Res"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0020","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/ng.393","article-title":"Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer","volume":"41","author":"Kanetsky","year":"2009","journal-title":"Nat Genet"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0021","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/ng.394","article-title":"A genome-wide association study of testicular germ cell tumor","volume":"41","author":"Rapley","year":"2009","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0022","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1530\/ERC-11-0340","article-title":"Variants in KITLG predispose to testicular germ cell cancer independently from spermatogenic function","volume":"19","author":"Ferlin","year":"2012","journal-title":"Endocr Relat Cancer"},{"issue":"2","key":"10.1016\/j.semdp.2026.151011_bib0023","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.cell.2013.09.017","article-title":"XA polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection","volume":"155","author":"Zeron-Medina","year":"2013","journal-title":"Cell"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0024","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1038\/ng.2635","article-title":"Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14","volume":"45","author":"Ruark","year":"2013","journal-title":"Nat Genet"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0025","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1038\/ng.607","article-title":"Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer","volume":"42","author":"Turnbull","year":"2010","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0026","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.21037\/tau-19-726","article-title":"Gonadal malignancy in patients with differences of sex development","volume":"9","author":"Morin","year":"2020","journal-title":"Transl Androl UrolAME Publ Co"},{"issue":"JUN","key":"10.1016\/j.semdp.2026.151011_bib0027","doi-asserted-by":"crossref","first-page":"343","DOI":"10.3389\/fendo.2019.00343","article-title":"On the origin of testicular germ cell tumors: from gonocytes to testicular cancer","volume":"10","author":"Baroni","year":"2019","journal-title":"Front Endocrinol"},{"issue":"20","key":"10.1016\/j.semdp.2026.151011_bib0028","doi-asserted-by":"crossref","first-page":"5017","DOI":"10.3390\/ijms20205017","article-title":"Predicting gonadal germ cell cancer in people with disorders of sex development; insights from developmental biology","volume":"20","author":"Looijenga","year":"2019","journal-title":"Int J Mol Sci MDPI AG"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0029","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.2047-2927.2014.00252.x","article-title":"Androgen receptor polymorphisms and testicular cancer risk","volume":"3","author":"Grassetti","year":"2015","journal-title":"Andrology"},{"issue":"3","key":"10.1016\/j.semdp.2026.151011_bib0030","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ejca.2010.08.017","article-title":"Polymorphic variation in the androgen receptor gene: association with risk of testicular germ cell cancer and metastatic disease","volume":"47","author":"V\u00e4stermark","year":"2011","journal-title":"Eur J Cancer"},{"issue":"14","key":"10.1016\/j.semdp.2026.151011_bib0031","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1016\/j.ejca.2004.06.004","article-title":"Linkage between androgen receptor gene CAG trinucleotide repeat length and testicular germ cell cancer histological type and clinical stage","volume":"40","author":"Giwercman","year":"2004","journal-title":"Eur J Cancer"},{"issue":"12","key":"10.1016\/j.semdp.2026.151011_bib0032","doi-asserted-by":"crossref","first-page":"13754","DOI":"10.18632\/oncotarget.7337","article-title":"Predictive value of GGN and CAG repeat polymorphisms of androgen receptors in testicular cancer: a meta-analysis","volume":"7","author":"Jiang","year":"2016","journal-title":"Oncotarget"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0033","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1093\/humrep\/des075","article-title":"Gene variations in sex hormone pathways and the risk of testicular germ cell tumour: a caseparent triad study in a NorwegianSwedish population","volume":"27","author":"Kristiansen","year":"2012","journal-title":"Hum Reprod"},{"issue":"15","key":"10.1016\/j.semdp.2026.151011_bib0034","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1093\/hmg\/ddr207","article-title":"A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility","volume":"20","author":"Kanetsky","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"22","key":"10.1016\/j.semdp.2026.151011_bib0035","doi-asserted-by":"crossref","first-page":"6061","DOI":"10.1093\/hmg\/ddu305","article-title":"Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors","volume":"23","author":"Koster","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"6646","key":"10.1016\/j.semdp.2026.151011_bib0036","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/37987","article-title":"The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis","volume":"389","author":"Ruggiu","year":"1997","journal-title":"Nature"},{"issue":"52","key":"10.1016\/j.semdp.2026.151011_bib0037","doi-asserted-by":"crossref","first-page":"22323","DOI":"10.1073\/pnas.0905431106","article-title":"The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency","volume":"106","author":"Krentz","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0038","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1136\/jmedgenet-2011-100001","article-title":"Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour","volume":"48","author":"Kratz","year":"2011","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0039","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/ng.2634","article-title":"Meta-analysis identifies four new loci associated with testicular germ cell tumor","volume":"45","author":"Chung","year":"2013","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0040","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1001\/jamaoncol.2018.6477","article-title":"Association of inherited pathogenic variants in Checkpoint Kinase 2 (CHEK2) with susceptibility to testicular germ cell tumors","volume":"5","author":"Aldubayan","year":"2019","journal-title":"JAMA Oncol"},{"issue":"2","key":"10.1016\/j.semdp.2026.151011_bib0041","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/35101031","article-title":"Two genetic hits (more or less) to cancer","volume":"1","author":"Knudson","year":"2001","journal-title":"Nat Rev Cancer"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0042","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/j.molcel.2009.09.007","article-title":"Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase","volume":"35","author":"Cai","year":"2009","journal-title":"Mol Cell"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0043","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s10689-020-00190-5","article-title":"Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue","volume":"20","author":"Ni","year":"2021","journal-title":"Fam Cancer"},{"issue":"22","key":"10.1016\/j.semdp.2026.151011_bib0044","doi-asserted-by":"crossref","first-page":"7065","DOI":"10.3390\/jcm12227065","article-title":"Further association of germline CHEK2 loss-of-function variants with testicular germ cell tumors","volume":"12","author":"Kirchner","year":"2023","journal-title":"J Clin Med"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0045","first-page":"723","article-title":"Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review","volume":"484","author":"Strakova-Peterikova","year":"2024","journal-title":"Virchows Arch Springer Sci Bus Media Dtschl GmbH"},{"issue":"2\u20133","key":"10.1016\/j.semdp.2026.151011_bib0046","first-page":"156","article-title":"Carney complex. Experimental and clinical endocrinology and diabetes","volume":"127","author":"Kamilaris","year":"2019","journal-title":"Georg Thieme Verl"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0047","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0048","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1210\/jc.2008-2333","article-title":"Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2032-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes","volume":"94","author":"Bertherat","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0049","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1093\/ajcp\/74.5.607","article-title":"Large-cell calcifying Sertoli cell tumor of the testis","volume":"74","author":"Proppe","year":"1980","journal-title":"Am J Clin Pathol"},{"key":"10.1016\/j.semdp.2026.151011_bib0050","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.humpath.2023.12.008","article-title":"Molecular characterization of large cell calcifying sertoli cell tumors: a multi-institutional study of 6 benign and 2 malignant tumors","volume":"144","author":"Abdulfatah","year":"2024","journal-title":"Hum Pathol"},{"issue":"7","key":"10.1016\/j.semdp.2026.151011_bib0051","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1111\/his.14895","article-title":"Large cell calcifying Sertoli cell tumour: molecular and immunohistochemical assessment of a series comprising non-metastasising and metastasising neoplasms","volume":"82","author":"Yu","year":"2023","journal-title":"Histopathology"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0052","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/his.14599","article-title":"Large cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry","volume":"80","author":"Anderson","year":"2022","journal-title":"Histopathology"},{"key":"10.1016\/j.semdp.2026.151011_bib0053","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1001\/archderm.1986.01660190068018","article-title":"Cutaneous myxomas A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"122","author":"Carney","year":"1986","journal-title":"Arch Dermatol"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0054","article-title":"Peutz-Jeghers syndrome: a comprehensive review of genetics, clinical features, and management approaches","volume":"16","author":"Amru","year":"2024","journal-title":"Cureus"},{"issue":"11","key":"10.1016\/j.semdp.2026.151011_bib0055","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1136\/jclinpath-2021-207906","article-title":"Gene of the month: STK11","volume":"74","author":"Zyla","year":"2021","journal-title":"J Clin Pathol"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0056","first-page":"252","article-title":"Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone","volume":"63","author":"Kara","year":"2005","journal-title":"Horm Res"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0057","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1097\/PAS.0b013e3180309e33","article-title":"Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome","volume":"31","author":"Ulbright","year":"2007","journal-title":"Am J Surg Pathol"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0058","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1515\/JPEM.2002.15.4.449","article-title":"Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome","volume":"15","author":"Alikasifoglu","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.semdp.2026.151011_bib0059","doi-asserted-by":"crossref","first-page":"e184","DOI":"10.1097\/MPH.0000000000000243","article-title":"Intratubular large cell hyalinizing sertoli cell tumor of the testes in a 4-year-old male with Peutz-Jeghers Syndrome","volume":"37","author":"Armijo","year":"2015","journal-title":"J Pediatr Hematol Oncol"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0060","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/his.15513","article-title":"Loss of expression of STK11\/LKB1 in intratubular large cell hyalinizing Sertoli cell neoplasm","volume":"87","author":"Anderson","year":"2025","journal-title":"Histopathology"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0061","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1097\/PAS.0000000000001849","article-title":"Large cell calcifying sertoli cell tumor: a clinicopathologic study of 18 cases with comprehensive review of the literature and reappraisal of prognostic features","volume":"46","author":"Al-Obaidy","year":"2022","journal-title":"Am J Surg Pathol"},{"issue":"9","key":"10.1016\/j.semdp.2026.151011_bib0062","doi-asserted-by":"crossref","DOI":"10.1016\/j.modpat.2025.100804","article-title":"Observer variation in the diagnosis of testicular sex cord-stromal tumors by a genitourinary pathology society and international society of urological pathology panel: paving the way for a new classification","volume":"38","author":"Berney","year":"2025","journal-title":"Mod Pathol"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0063","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer the multiple leiomyoma consortium","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"issue":"8","key":"10.1016\/j.semdp.2026.151011_bib0064","doi-asserted-by":"crossref","first-page":"3071","DOI":"10.1210\/jc.2006-0183","article-title":"Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations","volume":"91","author":"Carvajal-Carmona","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.semdp.2026.151011_bib0065","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1038\/s41379-021-00845-3","article-title":"Comparative molecular analysis of testicular Leydig cell tumors demonstrates distinct subsets of neoplasms with aggressive histopathologic features","volume":"34","author":"Rizzo","year":"2021","journal-title":"Mod Pathol"},{"issue":"11","key":"10.1016\/j.semdp.2026.151011_bib0066","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1097\/PAS.0000000000000520","article-title":"Morphology and immunohistochemistry for 2SC and FH aid in detection of fumarate hydratase gene aberrations in uterine leiomyomas from young patients","volume":"39","author":"Joseph","year":"2015","journal-title":"Am J Surg Pathol"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0067","first-page":"646","article-title":"Fumarate hydratase-deficient testicular sex cord-stromal tumour (FH-TSCST): proposal for reclassification of a subset of Leydig cell tumours with distinct molecular and clinicopathologic features","volume":"82","author":"Acosta","year":"2023","journal-title":"Histopathol John Wiley Sons Inc"},{"issue":"11","key":"10.1016\/j.semdp.2026.151011_bib0068","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1038\/s41379-020-0596-y","article-title":"Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants","volume":"33","author":"Popp","year":"2020","journal-title":"Mod Pathol"},{"issue":"5","key":"10.1016\/j.semdp.2026.151011_bib0069","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/PAS.0000000000000573","article-title":"Fumarate hydratase-deficient uterine leiomyomas occur in both the syndromic and sporadic settings","volume":"40","author":"Harrison","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1016\/j.semdp.2026.151011_bib0070","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.semcdb.2023.04.004","article-title":"The adenomatous polyposis coli protein 30 years on","volume":"150-151","author":"Abbott","year":"2023","journal-title":"Semin Cell Dev Biol"},{"issue":"11","key":"10.1016\/j.semdp.2026.151011_bib0071","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.5858\/arpa.2018-0570-RA","article-title":"Familial adenomatous polyposis syndrome an update and review of extraintestinal manifestations","volume":"143","author":"Dinarvand","year":"2019","journal-title":"Arch Pathol Lab MedColl Am Pathol"},{"issue":"1","key":"10.1016\/j.semdp.2026.151011_bib0072","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1097\/PAS.0b013e31829cdbc6","article-title":"Frequent mutation and nuclear localization of \u03b2-catenin in sertoli cell tumors of the testis","volume":"38","author":"Perrone","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0073","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s00428-012-1332-x","article-title":"Bilateral Sertoli cell tumors of the testis-a likely new extracolonic manifestation of familial adenomatous polyposis","volume":"461","author":"Xiao","year":"2012","journal-title":"Virchows Arch"},{"issue":"12","key":"10.1016\/j.semdp.2026.151011_bib0074","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1097\/PAS.0000000000002132","article-title":"Germline APC alterations may predispose to testicular sex cord-stromal tumors","volume":"47","author":"Siegmund","year":"2023","journal-title":"Am J Surg Pathol"},{"key":"10.1016\/j.semdp.2026.151011_bib0075","series-title":"Pediatric and Developmental Pathology","article-title":"The histological spectrum of DICER1-associated neoplasms","author":"Capozzi","year":"2025"},{"key":"10.1016\/j.semdp.2026.151011_bib0076","doi-asserted-by":"crossref","first-page":"214","DOI":"10.12688\/f1000research.6746.1","article-title":"Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma \/DICER1 syndrome: a unique variant of the two-hit tumor suppression model","volume":"4","author":"Brenneman","year":"2015","journal-title":"F1000Res"},{"issue":"4","key":"10.1016\/j.semdp.2026.151011_bib0077","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/jmedgenet-2020-107434","article-title":"Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome","volume":"59","author":"Golmard","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.semdp.2026.151011_bib0078","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.cancergen.2020.10.002","article-title":"Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors: DICER1 and testicular cancer","volume":"248-249","author":"Vasta","year":"2020","journal-title":"Cancer Genet"},{"issue":"6","key":"10.1016\/j.semdp.2026.151011_bib0079","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/S1470-2045(23)00156-0","article-title":"Utility of polygenic risk scores in UK cancer screening: a modelling analysis","volume":"24","author":"Huntley","year":"2023","journal-title":"Lancet Oncol"}],"container-title":["Seminars in Diagnostic Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0740257026000316?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0740257026000316?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T11:25:33Z","timestamp":1779449133000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0740257026000316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":79,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["S0740257026000316"],"URL":"https:\/\/doi.org\/10.1016\/j.semdp.2026.151011","relation":{},"ISSN":["0740-2570"],"issn-type":[{"value":"0740-2570","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recent advances in genetic predisposition to primary testicular tumors","name":"articletitle","label":"Article Title"},{"value":"Seminars in Diagnostic Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.semdp.2026.151011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"151011"}}