{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T01:06:06Z","timestamp":1790730366304,"version":"4.1.0"},"reference-count":119,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Diagnostic Pathology"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1053\/j.semdp.2017.05.004","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T09:31:11Z","timestamp":1498555871000},"page":"161-169","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Next generation immunohistochemistry: Emerging substitutes to genetic testing?"],"prefix":"10.1053","volume":"35","author":[{"given":"Juliana","family":"Andrici","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Gill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason L.","family":"Hornick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.semdp.2017.05.004_bib1","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","article-title":"The complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"64","author":"Carney","year":"1985","journal-title":"Medicine"},{"key":"10.1053\/j.semdp.2017.05.004_bib2","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/S1085-5629(05)80003-3","article-title":"Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas","volume":"14","author":"Carney","year":"1995","journal-title":"Semin Dermatol"},{"key":"10.1053\/j.semdp.2017.05.004_bib3","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/00000478-200102000-00004","article-title":"Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders","volume":"25","author":"Carney","year":"2001","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib4","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","author":"Stratakis","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib5","doi-asserted-by":"crossref","first-page":"E1888","DOI":"10.1210\/jc.2011-1433","article-title":"Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association","volume":"96","author":"Gaujoux","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib6","doi-asserted-by":"crossref","first-page":"M85","DOI":"10.1530\/EJE-15-0209","article-title":"Carney complex: an update","volume":"173","author":"Correa","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1053\/j.semdp.2017.05.004_bib7","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.beem.2010.03.003","article-title":"Clinical and molecular genetics of Carney complex","volume":"24","author":"Rothenbuhler","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib8","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/nrc1798","article-title":"Inherited disposition to cardiac myxoma development","volume":"6","author":"Wilkes","year":"2006","journal-title":"Nat Rev Cancer"},{"key":"10.1053\/j.semdp.2017.05.004_bib9","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1161\/01.CIR.98.23.2560","article-title":"Identification of a novel genetic locus for familial cardiac myxomas and Carney complex","volume":"98","author":"Casey","year":"1998","journal-title":"Circulation"},{"key":"10.1053\/j.semdp.2017.05.004_bib10","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-\u03b1 regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib11","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"},{"key":"10.1053\/j.semdp.2017.05.004_bib12","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1097\/PAS.0000000000000202","article-title":"PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors","volume":"38","author":"Maleszewski","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib13","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1097\/PAS.0b013e3182a0a150","article-title":"Malignant melanotic schwannian tumor: a clinicopathologic, immunohistochemical, and gene expression profiling study of 40 cases, with a proposal for the reclassification of \u201cmelanotic schwannoma\u201d","volume":"38","author":"Torres-Mora","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib14","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/BF03346496","article-title":"Analysis of GNAS1 and PRKAR1A gene mutations in human cardiac myxomas not associated with multiple endocrine disorders","volume":"32","author":"Mantovani","year":"2009","journal-title":"J Endocrinol Invest"},{"key":"10.1053\/j.semdp.2017.05.004_bib15","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ijcard.2004.05.053","article-title":"PRKAR1A gene mutation in patients with cardiac myxoma","volume":"102","author":"Mabuchi","year":"2005","journal-title":"Int J Cardiol"},{"key":"10.1053\/j.semdp.2017.05.004_bib16","first-page":"59","article-title":"Genetic alterations of Carney complex are not present in sporadic cardiac myxomas","volume":"9","author":"Fogt","year":"2002","journal-title":"Int J Mol Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib17","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/S0025-6196(12)62293-9","article-title":"Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas","volume":"62","author":"Dewald","year":"1987","journal-title":"Mayo Clin Proc"},{"key":"10.1053\/j.semdp.2017.05.004_bib18","first-page":"181","article-title":"Addition (1)(q32) as the sole clonal chromosomal abnormality in a case of cardiac myxoma","volume":"96","author":"Dobin","year":"1997","journal-title":"Cancer Genet Cytogenet"},{"key":"10.1053\/j.semdp.2017.05.004_bib19","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/00000478-199003000-00002","article-title":"Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome","volume":"14","author":"Carney","year":"1990","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib20","doi-asserted-by":"crossref","DOI":"10.1002\/gcc.22254","article-title":"Consistent copy number changes and recurrent PRKAR1A mutations distinguish melanotic schwannomas from melanomas: snp-array and next generation sequencing analysis","author":"Wang","year":"2015","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1053\/j.semdp.2017.05.004_bib21","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/j.prp.2015.04.011","article-title":"Cribriform-morular variant of papillary thyroid carcinoma","volume":"211","author":"Pradhan","year":"2015","journal-title":"Pathol Res Pract"},{"key":"10.1053\/j.semdp.2017.05.004_bib22","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1365-2559.1994.tb01374.x","article-title":"Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm","volume":"25","author":"Harach","year":"1994","journal-title":"Histopathology"},{"key":"10.1053\/j.semdp.2017.05.004_bib23","first-page":"400","article-title":"Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma?","volume":"12","author":"Cameselle-Teijeiro","year":"1999","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib24","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/path.1225","article-title":"Cribriform-morular variant of papillary thyroid carcinoma: a pathological and molecular genetic study with evidence of frequent somatic mutations in exon 3 of the beta-catenin gene","volume":"199","author":"Xu","year":"2003","journal-title":"J Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib25","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/bjs.1800740517","article-title":"Adenomatous polyposis: an association with carcinoma of the thyroid","volume":"74","author":"Plail","year":"1987","journal-title":"Br J Surg"},{"key":"10.1053\/j.semdp.2017.05.004_bib26","doi-asserted-by":"crossref","first-page":"803","DOI":"10.5858\/133.5.803","article-title":"The T1799A BRAF mutation is absent in cribriform-morular variant of papillary carcinoma","volume":"133","author":"Schuetze","year":"2009","journal-title":"Arch Pathol Lab Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib27","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1089\/thy.2008.0332","article-title":"The cytological, clinical, and pathological features of the cribriform-morular variant of papillary thyroid carcinoma and mutation analysis of CTNNB1 and BRAF genes","volume":"19","author":"Jung","year":"2009","journal-title":"Thyroid"},{"key":"10.1053\/j.semdp.2017.05.004_bib28","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1080\/01913120490431435","article-title":"Cribriform-morular variant of papillary thyroid carcinoma: ultrastructural study and somatic\/germline mutation analysis of the APC gene","volume":"28","author":"Kameyama","year":"2004","journal-title":"Ultrastruct Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib29","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1097\/PAP.0b013e31825c6bc6","article-title":"Succinate dehydrogenase-deficient tumors: diagnostic advances and clinical implications","volume":"19","author":"Barletta","year":"2012","journal-title":"Adv Anat Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib30","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1097\/PAT.0b013e3283539932","article-title":"Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia","volume":"44","author":"Gill","year":"2012","journal-title":"Pathology"},{"key":"10.1053\/j.semdp.2017.05.004_bib31","doi-asserted-by":"crossref","first-page":"5210","DOI":"10.1210\/jcem.86.11.8034","article-title":"Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients","volume":"86","author":"Erickson","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib32","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.humpath.2009.12.005","article-title":"Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes","volume":"41","author":"Gill","year":"2010","journal-title":"Hum Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib33","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/S1470-2045(09)70164-0","article-title":"An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis","volume":"10","author":"van Nederveen","year":"2009","journal-title":"Lancet Oncol"},{"key":"10.1053\/j.semdp.2017.05.004_bib34","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/modpathol.2015.41","article-title":"SDHB\/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)","volume":"28","author":"Papathomas","year":"2015","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib35","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00431-015-2614-5","article-title":"Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl","volume":"175","author":"Imamura","year":"2016","journal-title":"Eur J Pediatr"},{"key":"10.1053\/j.semdp.2017.05.004_bib36","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1056\/NEJMc070010","article-title":"Somatic SDHB mutation in an extraadrenal pheochromocytoma","volume":"357","author":"van Nederveen","year":"2007","journal-title":"N Engl J Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib37","first-page":"6822","article-title":"Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma","volume":"60","author":"Gimm","year":"2000","journal-title":"Cancer Res"},{"key":"10.1053\/j.semdp.2017.05.004_bib38","doi-asserted-by":"crossref","first-page":"268ra177","DOI":"10.1126\/scitranslmed.3009961","article-title":"Recurrent epimutation of SDHC in gastrointestinal stromal tumors","volume":"6","author":"Killian","year":"2014","journal-title":"Sci Transl Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib39","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1111\/j.1365-2559.2012.04300.x","article-title":"Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumors: a comprehensive genotype-phenotype correlation study","volume":"61","author":"Doyle","year":"2012","journal-title":"Histopathology"},{"key":"10.1053\/j.semdp.2017.05.004_bib40","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1097\/PAS.0b013e3182217b93","article-title":"\"Pediatric-type\" gastrointestinal stromal tumors are SDHB negative (\"type 2\") GISTs","volume":"35","author":"Gill","year":"2011","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib41","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1097\/PAS.0000000000000292","article-title":"Succinate dehydrogenase (SDH) deficient renal carcinoma\u2013a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients","volume":"38","author":"Gill","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib42","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1097\/PAS.0b013e3181d6150d","article-title":"Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types","volume":"34","author":"Gill","year":"2010","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib43","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1097\/PAS.0b013e318227e7f4","article-title":"Renal tumors associated with germline SDHB mutation show distinctive morphology","volume":"35","author":"Gill","year":"2011","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib44","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1038\/modpathol.2012.77","article-title":"Succinate dehydrogenase-deficient GISTs are characterized by IGF1R overexpression","volume":"25","author":"Chou","year":"2012","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib45","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/modpathol.2014.86","article-title":"Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma","volume":"28","author":"Williamson","year":"2015","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib46","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ejhg.2013.80","article-title":"Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT\/PDGFRA wild-type GIST","volume":"22","author":"Pantaleo","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib47","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1097\/PAS.0b013e3182671155","article-title":"Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors","volume":"37","author":"Dwight","year":"2013","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib48","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/modpathol.2012.153","article-title":"Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors","volume":"26","author":"Wagner","year":"2013","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib49","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1073\/pnas.1009199108","article-title":"Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations","volume":"108","author":"Janeway","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/j.semdp.2017.05.004_bib50","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1097\/PAS.0000000000000149","article-title":"Succinate dehydrogenase deficiency is rare in pituitary adenomas","volume":"38","author":"Gill","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib51","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1097\/PAS.0000000000000685","article-title":"Conventional risk stratification fails to predict progression of succinate dehydrogenase\u2013deficient gastrointestinal stromal tumors: a clinicopathologic study of 76 cases","volume":"40","author":"Mason","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib52","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1097\/PAS.0b013e3182260752","article-title":"Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age","volume":"35","author":"Miettinen","year":"2011","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib53","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","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib54","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.1073\/pnas.051633798","article-title":"Inherited susceptibility to uterine leiomyomas and renal cell cancer","volume":"98","author":"Launonen","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/j.semdp.2017.05.004_bib55","doi-asserted-by":"crossref","first-page":"409","DOI":"10.2340\/0001555553409416","article-title":"Cutaneous leiomyomata with uterine leiomyomata","volume":"53","author":"Reed","year":"1973","journal-title":"Acta Derm Venereol"},{"key":"10.1053\/j.semdp.2017.05.004_bib56","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddg148","article-title":"Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency","volume":"12","author":"Alam","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib57","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1097\/PAS.0000000000000719","article-title":"Tubulocystic carcinoma of the kidney with poorly differentiated foci: a frequent morphologic pattern of fumarate hydratase-deficient renal cell carcinoma","volume":"40","author":"Smith","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib58","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1097\/PAS.0000000000000617","article-title":"Fumarate hydratase-deficient renal cell carcinoma is strongly correlated with fumarate hydratase mutation and hereditary leiomyomatosis and renal cell carcinoma syndrome","volume":"40","author":"Trpkov","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib59","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1097\/PAS.0b013e318299f2d1","article-title":"The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia","volume":"37","author":"Srigley","year":"2013","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib60","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1097\/PAS.0000000000000163","article-title":"Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry","volume":"38","author":"Chen","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib61","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1086\/376435","article-title":"Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America","volume":"73","author":"Toro","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib62","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jmg.2005.033506","article-title":"Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer","volume":"43","author":"Wei","year":"2006","journal-title":"J Med Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib63","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/path.2932","article-title":"Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status","volume":"225","author":"Bardella","year":"2011","journal-title":"J Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib64","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/PAS.0000000000000573","article-title":"Fumarate hydratase\u2013deficient uterine leiomyomas occur in both the syndromic and sporadic settings","volume":"40","author":"Harrison","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib65","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1111\/cup.12396","article-title":"Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome","volume":"41","author":"Llamas-Velasco","year":"2014","journal-title":"J Cutan Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib66","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1086\/376435","article-title":"Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America","volume":"73","author":"Toro","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib67","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.canlet.2005.04.017","article-title":"No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas","volume":"235","author":"Barker","year":"2006","journal-title":"Cancer Lett"},{"key":"10.1053\/j.semdp.2017.05.004_bib68","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/sj.bjc.6600502","article-title":"Low frequency of somatic mutations in the FH\/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas","volume":"87","author":"Barker","year":"2002","journal-title":"Br J Cancer"},{"key":"10.1053\/j.semdp.2017.05.004_bib69","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0002-9440(10)63091-X","article-title":"Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors","volume":"164","author":"Lehtonen","year":"2004","journal-title":"Am J Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib70","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1089\/thy.2014.0335","article-title":"Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma","volume":"25","author":"Wells","year":"2015","journal-title":"Thyroid"},{"key":"10.1053\/j.semdp.2017.05.004_bib71","doi-asserted-by":"crossref","first-page":"3149","DOI":"10.1210\/jc.2013-1204","article-title":"Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update","volume":"98","author":"Wells","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib72","first-page":"770","article-title":"A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A","volume":"83","author":"Berndt","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib73","doi-asserted-by":"crossref","first-page":"3746","DOI":"10.1210\/jcem.86.8.7767","article-title":"Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients","volume":"86","author":"Niccoli-Sire","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib74","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1365-2265.1995.tb01903.x","article-title":"Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma","volume":"43","author":"Eng","year":"1995","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1053\/j.semdp.2017.05.004_bib75","doi-asserted-by":"crossref","first-page":"4725","DOI":"10.1210\/jc.2007-1005","article-title":"RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center","volume":"92","author":"Elisei","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib76","doi-asserted-by":"crossref","first-page":"E364","DOI":"10.1210\/jc.2012-2703","article-title":"Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS","volume":"98","author":"Agrawal","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib77","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1097\/PAS.0000000000000740","article-title":"NRASQ61R mutation-specific immunohistochemistry also identifies the HRASQ61R mutation in medullary thyroid cancer and may have a role in triaging genetic testing for MEN2","volume":"41","author":"Reagh","year":"2017","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib78","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/modpathol.2014.137","article-title":"Immunohistochemistry is highly sensitive and specific for the detection of NRASQ61R mutation in melanoma","volume":"28","author":"Massi","year":"2015","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib79","article-title":"NRASQ61R mutation-specific immunohistochemistry is highly specific for either NRASQ61R or KRASQ61R mutation in colorectal carcinoma","author":"Turchini","year":"2016","journal-title":"Appl Immunohistochem Mol Morphol"},{"key":"10.1053\/j.semdp.2017.05.004_bib80","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1097\/PAT.0b013e32835d0efb","article-title":"Tumors associated with BAP1 mutations","volume":"45","author":"Murali","year":"2013","journal-title":"Pathology"},{"key":"10.1053\/j.semdp.2017.05.004_bib81","doi-asserted-by":"crossref","first-page":"37","DOI":"10.4137\/CMO.S15239","article-title":"The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment","volume":"8","author":"Battaglia","year":"2014","journal-title":"Clin Med Insights Oncol"},{"key":"10.1053\/j.semdp.2017.05.004_bib82","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1111\/cge.12630","article-title":"Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases","volume":"89","author":"Rai","year":"2016","journal-title":"Clin Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib83","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.912","article-title":"Germline BAP1 mutations predispose to malignant mesothelioma","volume":"43","author":"Testa","year":"2011","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib84","unstructured":"OMIM: Online Mendelian Inheritance in Man [homepage on the Internet]; [updated 11 July. ]. Baltimore: Johns Hopkins University School of Medicine, 2016. Accessed 7 September 2016, at \u3008http:\/\/omim\u3009.org\/entry\/614327; 2013."},{"key":"10.1053\/j.semdp.2017.05.004_bib85","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng.910","article-title":"Germline mutations in BAP1 predispose to melanocytic tumors","volume":"43","author":"Wiesner","year":"2011","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib86","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1097\/PAS.0b013e3182498be5","article-title":"A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression","volume":"36","author":"Wiesner","year":"2012","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib87","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.ajhg.2013.04.012","article-title":"Germline BAP1 mutations predispose to renal cell carcinomas","volume":"92","author":"Popova","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib88","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/cge.12501","article-title":"A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma","volume":"88","author":"Wadt","year":"2015","journal-title":"Clin Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib89","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/cge.12472","article-title":"Germline BAP1 mutations predispose also to multiple basal cell carcinomas","volume":"88","author":"de la Fouchardiere","year":"2015","journal-title":"Clin Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib90","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/1479-5876-10-179","article-title":"BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs","volume":"10","author":"Carbone","year":"2012","journal-title":"J Transl Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib91","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1038\/ng.2813","article-title":"Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas","volume":"45","author":"Jiao","year":"2013","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib92","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1038\/ng.2806","article-title":"Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers","volume":"45","author":"Chan-On","year":"2013","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib93","doi-asserted-by":"crossref","first-page":"e2491","DOI":"10.1097\/MD.0000000000002491","article-title":"Loss of BAP1 Expression Occurs Frequently in Intrahepatic Cholangiocarcinoma","volume":"95","author":"Andrici","year":"2016","journal-title":"Medicine (Baltimore)"},{"key":"10.1053\/j.semdp.2017.05.004_bib94","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.canlet.2016.05.011","article-title":"CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma","volume":"378","author":"Betti","year":"2016","journal-title":"Cancer Lett"},{"key":"10.1053\/j.semdp.2017.05.004_bib95","doi-asserted-by":"crossref","first-page":"6953","DOI":"10.1158\/0008-5472.CAN-08-0365","article-title":"BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization","volume":"68","author":"Ventii","year":"2008","journal-title":"Cancer Res"},{"key":"10.1053\/j.semdp.2017.05.004_bib96","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/JTO.0000000000000471","article-title":"High incidence of somatic BAP1 alterations in sporadic malignant mesothelioma","volume":"10","author":"Nasu","year":"2015","journal-title":"J Thorac Oncol"},{"key":"10.1053\/j.semdp.2017.05.004_bib97","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1038\/modpathol.2014.43","article-title":"Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma","volume":"27","author":"Koopmans","year":"2014","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib98","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/ng.2323","article-title":"BAP1 loss defines a new class of renal cell carcinoma","volume":"44","author":"Pe\u00f1a-Llopis","year":"2012","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib99","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/PAT.0000000000000250","article-title":"Loss of expression of BAP1 predicts longer survival in mesothelioma","volume":"47","author":"Farzin","year":"2015","journal-title":"Pathology"},{"key":"10.1053\/j.semdp.2017.05.004_bib100","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1038\/modpathol.2015.87","article-title":"Loss of expression of BAP1 is a useful adjunct, which strongly supports the diagnosis of mesothelioma in effusion cytology","volume":"28","author":"Andrici","year":"2015","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib101","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1056\/NEJM200012213432508","article-title":"Hyperparathyroid and hypoparathyroid disorders","volume":"343","author":"Marx","year":"2000","journal-title":"N Engl J Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib102","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1097\/01.pas.0000209827.39477.4f","article-title":"Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias","volume":"30","author":"Gill","year":"2006","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib103","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1359\/jbmr.081018","article-title":"Parathyroid carcinoma","volume":"23","author":"Marcocci","year":"2008","journal-title":"J Bone Miner Res"},{"key":"10.1053\/j.semdp.2017.05.004_bib104","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1365-2796.2004.01428.x","article-title":"Parathyroid surgery in familial hyperparathyroid disorders","volume":"257","author":"Carling","year":"2005","journal-title":"J Intern Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib105","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1007\/s12022-013-9294-3","article-title":"Understanding the genetic basis of parathyroid carcinoma","volume":"25","author":"Gill","year":"2014","journal-title":"Endocr Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib106","first-page":"1006","article-title":"Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome","volume":"108","author":"Jackson","year":"1990","journal-title":"Surgery"},{"key":"10.1053\/j.semdp.2017.05.004_bib107","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1007\/s00423-009-0511-y","article-title":"Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred","volume":"394","author":"Iacobone","year":"2009","journal-title":"Langenbecks Arch Surg"},{"key":"10.1053\/j.semdp.2017.05.004_bib108","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ng1048","article-title":"HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome","volume":"32","author":"Carpten","year":"2002","journal-title":"Nat Genet"},{"key":"10.1053\/j.semdp.2017.05.004_bib109","doi-asserted-by":"crossref","first-page":"6629","DOI":"10.1158\/1078-0432.CCR-04-0493","article-title":"Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma","volume":"10","author":"Tan","year":"2004","journal-title":"Clin Cancer Res"},{"key":"10.1053\/j.semdp.2017.05.004_bib110","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1210\/jc.2008-1740","article-title":"Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma","volume":"94","author":"Howell","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.semdp.2017.05.004_bib111","doi-asserted-by":"crossref","first-page":"e45567","DOI":"10.1371\/journal.pone.0045567","article-title":"Novel HRPT2\/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas","volume":"7","author":"Wang","year":"2012","journal-title":"PLoS One"},{"key":"10.1053\/j.semdp.2017.05.004_bib112","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1677\/ERC-07-0021","article-title":"Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification","volume":"14","author":"Juhlin","year":"2007","journal-title":"Endocr Relat Cancer"},{"key":"10.1053\/j.semdp.2017.05.004_bib113","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1038\/modpathol.2010.236","article-title":"Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma","volume":"24","author":"Witteveen","year":"2011","journal-title":"Mod Pathol"},{"key":"10.1053\/j.semdp.2017.05.004_bib114","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1530\/EC-13-0046","article-title":"CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer","volume":"2","author":"Cetani","year":"2013","journal-title":"Endocr Connect"},{"key":"10.1053\/j.semdp.2017.05.004_bib115","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1245\/s10434-013-3288-8","article-title":"Negative parafibromin staining predicts malignant behavior in atypical parathyroid adenomas","volume":"21","author":"Kruijff","year":"2014","journal-title":"Ann Surg Oncol"},{"key":"10.1053\/j.semdp.2017.05.004_bib116","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1097\/MPA.0b013e31815ceb23","article-title":"Nesidioblastosis and hyperplasia of alpha cells, microglucagonoma, and nonfunctioning islet cell tumor of the pancreas: review of the literature","volume":"36","author":"Yu","year":"2008","journal-title":"Pancreas"},{"key":"10.1053\/j.semdp.2017.05.004_bib117","first-page":"4","article-title":"Mahvash disease: pancreatic neuroendocrine tumor syndrome caused by inactivating glucagon receptor mutation","volume":"7","author":"Lucas","year":"2013","journal-title":"J Mol Genet Med"},{"key":"10.1053\/j.semdp.2017.05.004_bib118","doi-asserted-by":"crossref","first-page":"235","DOI":"10.2217\/ije-2016-0005","article-title":"Mahvash disease: an autosomal recessive hereditary pancreatic neuroendocrine tumor syndrome","volume":"3","author":"Rhyu","year":"2016","journal-title":"Int J Endocr Oncol"},{"key":"10.1053\/j.semdp.2017.05.004_bib119","doi-asserted-by":"crossref","first-page":"E783","DOI":"10.1210\/jc.2014-4405","article-title":"Glucagon cell hyperplasia and neoplasia with and without glucagon receptor mutations","volume":"100","author":"Sipos","year":"2015","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Seminars in Diagnostic Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0740257017300643?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0740257017300643?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T05:14:30Z","timestamp":1692854070000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0740257017300643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":119,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S0740257017300643"],"URL":"https:\/\/doi.org\/10.1053\/j.semdp.2017.05.004","relation":{},"ISSN":["0740-2570"],"issn-type":[{"value":"0740-2570","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Next generation immunohistochemistry: Emerging substitutes to genetic testing?","name":"articletitle","label":"Article Title"},{"value":"Seminars in Diagnostic Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.semdp.2017.05.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}