{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T23:11:02Z","timestamp":1692745862814},"reference-count":95,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","surgpath.theclinics.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Surgical Pathology Clinics"],"published-print":{"date-parts":[[2016,6]]},"DOI":"10.1016\/j.path.2016.01.008","type":"journal-article","created":{"date-parts":[[2016,4,11]],"date-time":"2016-04-11T22:25:46Z","timestamp":1460413546000},"page":"269-287","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes"],"prefix":"10.1016","volume":"9","author":[{"given":"Deborah F.","family":"DeLair","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Soslow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib1","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10689-011-9428-z","article-title":"Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics","volume":"10","author":"Lehtonen","year":"2011","journal-title":"Fam Cancer"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib2","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 U S A"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib3","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1399-0004.2010.01486.x","article-title":"Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis","volume":"79","author":"Smit","year":"2011","journal-title":"Clin Genet"},{"issue":"7","key":"10.1016\/j.path.2016.01.008_bib4","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/modpathol.2013.215","article-title":"Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry","volume":"27","author":"Reyes","year":"2014","journal-title":"Mod Pathol"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib5","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"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib6","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"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib7","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/PAS.0b013e31825ec16f","article-title":"Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome","volume":"37","author":"Sanz-Ortega","year":"2013","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib8","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"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib9","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1001\/archdermatol.2008.517","article-title":"Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer","volume":"144","author":"Stewart","year":"2008","journal-title":"Arch Dermatol"},{"issue":"8","key":"10.1016\/j.path.2016.01.008_bib10","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1097\/PAS.0b013e318223ca01","article-title":"Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report","volume":"35","author":"Garg","year":"2011","journal-title":"Am J Surg Pathol"},{"issue":"11","key":"10.1016\/j.path.2016.01.008_bib11","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":"1","key":"10.1016\/j.path.2016.01.008_bib12","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\u00a0Pathol"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib13","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jmg.2005.036400","article-title":"Increased risk of cancer in patients with fumarate hydratase germline mutation","volume":"43","author":"Lehtonen","year":"2006","journal-title":"J\u00a0Med Genet"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib14","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.pcl.2015.03.005","article-title":"Tuberous sclerosis complex","volume":"62","author":"DiMario","year":"2015","journal-title":"Pediatr Clin North Am"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib15","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1097\/00004347-199510000-00010","article-title":"Lymphangiomyomatosis of the uterus associated with tuberous sclerosis and malignant neoplasia of the female genital tract: a report of two cases","volume":"14","author":"Gyure","year":"1995","journal-title":"Int J Gynecol Pathol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib16","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/pgp.0b013e318150df37","article-title":"\u201cMalignant\u201d uterine perivascular epithelioid cell tumor, pelvic lymph node lymphangioleiomyomatosis, and gynecological pecomatosis in a patient with tuberous sclerosis: a case report and review of the literature","volume":"27","author":"Liang","year":"2008","journal-title":"Int J Gynecol Pathol"},{"key":"10.1016\/j.path.2016.01.008_bib17","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/1746-1596-7-117","article-title":"Microscopic endometrial perivascular epithelioid cell nodules: a case report with the earliest presentation of a uterine perivascular epithelioid cell tumor","volume":"7","author":"Fang","year":"2012","journal-title":"Diagn Pathol"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib18","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1097\/PAS.0b013e318235edbd","article-title":"Prevalence of uterine and adnexal involvement in pulmonary lymphangioleiomyomatosis: a clinicopathologic study of 10 patients","volume":"35","author":"Hayashi","year":"2011","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib19","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1006\/gyno.1996.0344","article-title":"Lymphangioleiomyomatosis of the uterus simulating high-stage endometrial stromal sarcoma","volume":"63","author":"Longacre","year":"1996","journal-title":"Gynecol Oncol"},{"issue":"7","key":"10.1016\/j.path.2016.01.008_bib20","doi-asserted-by":"crossref","first-page":"641","DOI":"10.4065\/70.7.641","article-title":"Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex","volume":"70","author":"Torres","year":"1995","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.path.2016.01.008_bib21","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1477-7819-2-35","article-title":"Perivascular epithelioid cell tumor (PEComa) of the uterine cervix associated with intraabdominal \u201cPEComatosis\u201d: a clinicopathological study with comparative genomic hybridization analysis","volume":"2","author":"Fadare","year":"2004","journal-title":"World J Surg Oncol"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib22","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1097\/PAS.0000000000000133","article-title":"Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases","volume":"38","author":"Schoolmeester","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"10","key":"10.1016\/j.path.2016.01.008_bib23","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1016\/j.humpath.2012.03.020","article-title":"Uterine angiosarcoma associated with lymphangioleiomyomatosis in a patient with tuberous sclerosis complex: an autopsy case report with immunohistochemical and genetic analysis","volume":"43","author":"Hayashi","year":"2012","journal-title":"Hum Pathol"},{"issue":"10","key":"10.1016\/j.path.2016.01.008_bib24","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1053\/hupa.2000.18500","article-title":"Extrapulmonary lymphangioleiomyomatosis (LAM): clinicopathologic features in 22 cases","volume":"31","author":"Matsui","year":"2000","journal-title":"Hum Pathol"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib25","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1097\/PGP.0b013e3181fa5a99","article-title":"The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis","volume":"30","author":"Lim","year":"2011","journal-title":"Int J Gynecol Pathol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00000478-200201000-00001","article-title":"Perivascular epithelioid cell tumor ('PEComa') of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with an uncertain relationship to pure smooth muscle tumors","volume":"26","author":"Vang","year":"2002","journal-title":"Am J Surg Pathol"},{"issue":"10","key":"10.1016\/j.path.2016.01.008_bib27","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1097\/PAS.0000000000000470","article-title":"Incidental nodal lymphangioleiomyomatosis is not a harbinger of pulmonary lymphangioleiomyomatosis: a study of 19 cases with evaluation of diagnostic immunohistochemistry","volume":"39","author":"Schoolmeester","year":"2015","journal-title":"Am J Surg Pathol"},{"issue":"10","key":"10.1016\/j.path.2016.01.008_bib28","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1097\/PAS.0b013e3181f17ac0","article-title":"A\u00a0distinctive subset of PEComas harbors TFE3 gene fusions","volume":"34","author":"Argani","year":"2010","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib29","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1097\/PAS.0000000000000349","article-title":"TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis","volume":"39","author":"Schoolmeester","year":"2015","journal-title":"Am J Surg Pathol"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib30","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1097\/PAS.0000000000000389","article-title":"Dichotomy of genetic abnormalities in PEComas with therapeutic implications","volume":"39","author":"Agaram","year":"2015","journal-title":"Am J Surg Pathol"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib31","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1097\/01.pas.0000173232.22117.37","article-title":"Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature","volume":"29","author":"Folpe","year":"2005","journal-title":"Am J Surg Pathol"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib32","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/cncr.29106","article-title":"Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study","volume":"121","author":"Mahdi","year":"2015","journal-title":"Cancer"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib33","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1002\/cncr.29107","article-title":"Inherited predisposition to endometrial cancer: moving beyond Lynch syndrome","volume":"121","author":"Stadler","year":"2015","journal-title":"Cancer"},{"key":"10.1016\/j.path.2016.01.008_bib34","doi-asserted-by":"crossref","first-page":"219012","DOI":"10.1155\/2015\/219012","article-title":"Hereditary syndromes manifesting as endometrial carcinoma: how can pathological features aid risk assessment?","volume":"2015","author":"Wong","year":"2015","journal-title":"Biomed Res Int"},{"issue":"11","key":"10.1016\/j.path.2016.01.008_bib35","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","article-title":"Will the real Cowden syndrome please stand up: revised diagnostic criteria","volume":"37","author":"Eng","year":"2000","journal-title":"J\u00a0Med Genet"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib36","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1093\/ajcp\/97.5.705","article-title":"Multiple hamartoma syndrome (Cowden's disease) associated with renal cell carcinoma and primary neuroendocrine carcinoma of the skin (Merkel cell carcinoma)","volume":"97","author":"Haibach","year":"1992","journal-title":"Am J Clin Pathol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib37","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0046-8177(98)90389-6","article-title":"Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer","volume":"29","author":"Schrager","year":"1998","journal-title":"Hum Pathol"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib38","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1158\/1078-0432.CCR-11-2283","article-title":"Lifetime cancer risks in individuals with germline PTEN mutations","volume":"18","author":"Tan","year":"2012","journal-title":"Clin Cancer Res"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib39","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.2004.018036","article-title":"Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome","volume":"41","author":"Pilarski","year":"2004","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib40","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ygyno.2004.09.024","article-title":"Evaluation of germline PTEN mutations in endometrial cancer patients","volume":"96","author":"Black","year":"2005","journal-title":"Gynecol Oncol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib41","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1111\/j.1447-0756.2012.02052.x","article-title":"Endometrial cancer in a 14-year-old girl with Cowden syndrome: a case report","volume":"39","author":"Baker","year":"2013","journal-title":"J\u00a0Obstet Gynaecol Res"},{"key":"10.1016\/j.path.2016.01.008_bib42","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.gynor.2012.10.006","article-title":"Endometrial cancer in a 15-year-old girl: a complication of Cowden syndrome","volume":"3","author":"Elnaggar","year":"2012","journal-title":"Gynecol Oncol Case Rep"},{"issue":"2 Pt 2","key":"10.1016\/j.path.2016.01.008_bib43","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1097\/AOG.0b013e31819dade8","article-title":"Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome","volume":"114","author":"Schmeler","year":"2009","journal-title":"Obstet Gynecol"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib44","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/S0190-9622(83)70081-2","article-title":"Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature","volume":"8","author":"Salem","year":"1983","journal-title":"J\u00a0Am Acad Dermatol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib45","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","article-title":"A\u00a0clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands","volume":"88","author":"Tan","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib46","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.gynor.2011.12.004","article-title":"Coexisting atypical polypoid adenomyoma and endometrioid endometrial carcinoma in a young woman with Cowden syndrome: case report and implications for screening and prevention","volume":"2","author":"Edwards","year":"2012","journal-title":"Gynecol Oncol Case Rep"},{"issue":"7447","key":"10.1016\/j.path.2016.01.008_bib47","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/nature12113","article-title":"Integrated genomic characterization of endometrial carcinoma","volume":"497","author":"Cancer Genome Atlas Research Network","year":"2013","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib48","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/path.4056","article-title":"Use of mutation profiles to refine the classification of endometrial carcinomas","volume":"228","author":"McConechy","year":"2012","journal-title":"J\u00a0Pathol"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib49","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/modpathol.2011.208","article-title":"Clinical assessment of PTEN loss in endometrial carcinoma: immunohistochemistry outperforms gene sequencing","volume":"25","author":"Djordjevic","year":"2012","journal-title":"Mod Pathol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib50","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1097\/PGP.0b013e3182230d00","article-title":"Pathologic scoring of PTEN immunohistochemistry in endometrial carcinoma is highly reproducible","volume":"31","author":"Garg","year":"2012","journal-title":"Int J Gynecol Pathol"},{"issue":"17","key":"10.1016\/j.path.2016.01.008_bib51","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1200\/JCO.2013.53.6656","article-title":"Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations","volume":"32","author":"Ngeow","year":"2014","journal-title":"J\u00a0Clin Oncol"},{"issue":"36","key":"10.1016\/j.path.2016.01.008_bib52","doi-asserted-by":"crossref","first-page":"4155","DOI":"10.1200\/JCO.2014.58.2569","article-title":"Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations","volume":"32","author":"Smith","year":"2014","journal-title":"J\u00a0Clin Oncol"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib53","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/bjd.14206","article-title":"Basal cell nevus syndrome: an update on genetics and treatment","volume":"174","author":"John","year":"2015","journal-title":"Br J Dermatol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib54","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1067\/mob.2003.86","article-title":"Primary ovarian leiomyosarcoma as a new component in the nevoid basal cell carcinoma syndrome: a case report","volume":"188","author":"Seracchioli","year":"2003","journal-title":"Am J Obstet Gynecol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib55","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1097\/00000478-198403000-00010","article-title":"Fibrosarcoma of ovary. A new component in the nevoid basal-cell carcinoma syndrome","volume":"8","author":"Kraemer","year":"1984","journal-title":"Am J Surg Pathol"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib56","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.jmig.2015.03.002","article-title":"Laparoscopic treatment of sclerosing stromal tumor of the ovary in a woman with gorlin-goltz syndrome: a case report and review of the literature","volume":"22","author":"Grechi","year":"2015","journal-title":"J\u00a0Minim Invasive Gynecol"},{"issue":"11","key":"10.1016\/j.path.2016.01.008_bib57","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1111\/j.1471-0528.1994.tb13054.x","article-title":"Refractory gestational hypertension due to a renin-secreting ovarian fibrothecoma associated with Gorlin's syndrome","volume":"101","author":"Fox","year":"1994","journal-title":"Br J Obstet Gynaecol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib58","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M","article-title":"Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome","volume":"69","author":"Kimonis","year":"1997","journal-title":"Am J Med Genet"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib59","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmg.30.6.460","article-title":"Complications of the naevoid basal cell carcinoma syndrome: results of a population based study","volume":"30","author":"Evans","year":"1993","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib60","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1097\/00005792-198703000-00002","article-title":"Nevoid basal-cell carcinoma syndrome","volume":"66","author":"Gorlin","year":"1987","journal-title":"Medicine (Baltimore)"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib61","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1097\/01.GIM.0000144188.15902.C4","article-title":"Nevoid basal cell carcinoma (Gorlin) syndrome","volume":"6","author":"Gorlin","year":"2004","journal-title":"Genet Med"},{"issue":"2 Pt 2","key":"10.1016\/j.path.2016.01.008_bib62","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0190-9622(86)70046-7","article-title":"Nevoid basal cell carcinoma syndrome: bilateral ovarian fibromas in a 3 1\/2-year-old girl","volume":"14","author":"Johnson","year":"1986","journal-title":"J\u00a0Am Acad Dermatol"},{"issue":"3 Suppl","key":"10.1016\/j.path.2016.01.008_bib63","first-page":"95S","article-title":"Recurrent ovarian fibromas with basal cell nevus syndrome (Gorlin syndrome)","volume":"61","author":"Raggio","year":"1983","journal-title":"Obstet Gynecol"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib64","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1111\/j.1365-2559.1990.tb00688.x","article-title":"Bilateral virilizing sclerosing stromal tumours of the ovary in a pregnant woman with Gorlin's syndrome: implications for pathogenesis of ovarian stromal neoplasms","volume":"17","author":"Ismail","year":"1990","journal-title":"Histopathology"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib65","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1111\/j.1365-2044.1990.tb14885.x","article-title":"Pregnancy associated with Gorlin's syndrome","volume":"45","author":"Yoshizumi","year":"1990","journal-title":"Anaesthesia"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib66","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1093\/humrep\/16.6.1261","article-title":"Conservative treatment of recurrent ovarian fibromas in a young patient affected by Gorlin syndrome","volume":"16","author":"Seracchioli","year":"2001","journal-title":"Hum Reprod"},{"issue":"6","key":"10.1016\/j.path.2016.01.008_bib67","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ejhg.2010.175","article-title":"von Hippel-Lindau disease: a clinical and scientific review","volume":"19","author":"Maher","year":"2011","journal-title":"Eur J Hum Genet"},{"issue":"9374","key":"10.1016\/j.path.2016.01.008_bib68","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","article-title":"Von Hippel-Lindau disease","volume":"361","author":"Lonser","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.path.2016.01.008_bib69","unstructured":"Frantzen C, Klasson TD, Links TP, et\u00a0al. Von Hippel-Lindau syndrome. In: Pagon RA, Adam MP, Ardinger HH, et\u00a0al, editors. GeneReviews(R). Seattle (WA): 1993."},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib70","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S0344-0338(86)80022-X","article-title":"Papillary cystadenoma of the epididymis. Case report and review of the literature","volume":"181","author":"Wernert","year":"1986","journal-title":"Pathol Res Pract"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib71","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1111\/j.1365-2559.2011.04151.x","article-title":"An analysis of five clear cell papillary cystadenomas of mesosalpinx and broad ligament: four associated with von Hippel-Lindau disease and one aggressive sporadic type","volume":"60","author":"Nogales","year":"2012","journal-title":"Histopathology"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib72","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1097\/PGP.0b013e318228f577","article-title":"A\u00a0detailed immunohistochemical analysis of 2 cases of papillary cystadenoma of the broad ligament: an extremely rare neoplasm characteristic of patients with von hippel-lindau disease","volume":"31","author":"Brady","year":"2012","journal-title":"Int J Gynecol Pathol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib73","doi-asserted-by":"crossref","first-page":"527","DOI":"10.2214\/ajr.153.3.527","article-title":"Papillary cystadenoma of the broad ligament in a patient with von Hippel-Lindau disease","volume":"153","author":"Funk","year":"1989","journal-title":"AJR Am J Roentgenol"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib74","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1097\/00000478-199412000-00009","article-title":"Aggressive papillary tumor of middle ear\/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease","volume":"18","author":"Gaffey","year":"1994","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib75","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1097\/00004347-199707000-00016","article-title":"Tumor of the broad ligament in von Hippel-Lindau disease of probable mullerian origin","volume":"16","author":"Werness","year":"1997","journal-title":"Int J Gynecol Pathol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib76","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1097\/01.pas.0000155160.36154.mL","article-title":"Clear cell papillary cystadenoma of the epididymis and mesosalpinx: immunohistochemical differentiation from metastatic clear cell renal cell carcinoma","volume":"29","author":"Aydin","year":"2005","journal-title":"Am J Surg Pathol"},{"issue":"2","key":"10.1016\/j.path.2016.01.008_bib77","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1097\/00000478-198802000-00008","article-title":"Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease","volume":"12","author":"Gersell","year":"1988","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib78","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s00404-010-1386-4","article-title":"Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease","volume":"282","author":"Zanotelli","year":"2010","journal-title":"Arch Gynecol Obstet"},{"issue":"1","key":"10.1016\/j.path.2016.01.008_bib79","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/1097-0142(19880701)62:1<222::AID-CNCR2820620134>3.0.CO;2-W","article-title":"Ollier's disease associated with ovarian juvenile granulosa cell tumor","volume":"62","author":"Velasco-Oses","year":"1988","journal-title":"Cancer"},{"key":"10.1016\/j.path.2016.01.008_bib80","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/1750-1172-1-37","article-title":"Ollier disease","volume":"1","author":"Silve","year":"2006","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib81","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng844","article-title":"A\u00a0mutant PTH\/PTHrP type I receptor in enchondromatosis","volume":"30","author":"Hopyan","year":"2002","journal-title":"Nat Genet"},{"issue":"12","key":"10.1016\/j.path.2016.01.008_bib82","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1038\/ng.1004","article-title":"Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome","volume":"43","author":"Pansuriya","year":"2011","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.path.2016.01.008_bib83","first-page":"1592","article-title":"Ovarian juvenile granulosa cell tumor associated with Maffucci's syndrome: case report","volume":"117","author":"Yuan","year":"2004","journal-title":"Chin Med J (Engl)"},{"issue":"9","key":"10.1016\/j.path.2016.01.008_bib84","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/S1297-9589(02)00416-2","article-title":"Association of ovarian juvenile granulosa cell tumor with Maffucci's syndrome","volume":"30","author":"Hachi","year":"2002","journal-title":"Gynecol Obstet Fertil"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib85","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S1083-3188(98)70135-4","article-title":"Juvenile granulosa cell tumor in a 13-year-old girl with enchondromatosis (Ollier's disease): a case report","volume":"11","author":"Gell","year":"1998","journal-title":"J\u00a0Pediatr Adolesc Gynecol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib86","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1093\/ajcp\/97.4.523","article-title":"Ovarian juvenile granulosa cell tumor associated with Maffucci's syndrome","volume":"97","author":"Tanaka","year":"1992","journal-title":"Am J Clin Pathol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib87","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/BF00186886","article-title":"Ollier's disease with secondary chondrosarcoma associated with ovarian tumour. A case report","volume":"15","author":"Asirvatham","year":"1991","journal-title":"Int Orthop"},{"issue":"5","key":"10.1016\/j.path.2016.01.008_bib88","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1097\/PGP.0b013e3181a05af4","article-title":"First case of juvenile granulosa cell tumor in an adult with Ollier disease","volume":"28","author":"Rietveld","year":"2009","journal-title":"Int J Gynecol Pathol"},{"issue":"8","key":"10.1016\/j.path.2016.01.008_bib89","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/00000478-198408000-00002","article-title":"Juvenile granulosa cell tumor of the ovary. A clinicopathological analysis of 125 cases","volume":"8","author":"Young","year":"1984","journal-title":"Am J Surg Pathol"},{"issue":"9","key":"10.1016\/j.path.2016.01.008_bib90","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1097\/PAS.0000000000000475","article-title":"SMARCA4 (BRG1) loss of expression is a useful marker for the diagnosis of ovarian small cell carcinoma of the hypercalcemic type (ovarian rhabdoid tumor): a comprehensive analysis of 116 rare gynecologic tumors, 9 soft tissue tumors, and 9 melanomas","volume":"39","author":"Karanian-Philippe","year":"2015","journal-title":"Am J Surg Pathol"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib91","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1097\/PAS.0b013e31820a406c","article-title":"FOXL2 is a sensitive and specific marker for sex cord-stromal tumors of the ovary","volume":"35","author":"Al-Agha","year":"2011","journal-title":"Am J Surg Pathol"},{"issue":"20","key":"10.1016\/j.path.2016.01.008_bib92","doi-asserted-by":"crossref","first-page":"3037","DOI":"10.1093\/hmg\/9.20.3037","article-title":"Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex","volume":"9","author":"Kirschner","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.path.2016.01.008_bib93","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"},{"issue":"3","key":"10.1016\/j.path.2016.01.008_bib94","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1172\/JCI118467","article-title":"Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2","volume":"97","author":"Stratakis","year":"1996","journal-title":"J\u00a0Clin Invest"},{"issue":"11","key":"10.1016\/j.path.2016.01.008_bib95","doi-asserted-by":"crossref","first-page":"4359","DOI":"10.1210\/jcem.85.11.6921","article-title":"Ovarian lesions in carney complex: clinical genetics and possible predisposition to malignancy","volume":"85","author":"Stratakis","year":"2000","journal-title":"J\u00a0Clin Endocrinol Metab"}],"container-title":["Surgical Pathology Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1875918116000209?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1875918116000209?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T13:16:46Z","timestamp":1600435006000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1875918116000209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":95,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["S1875918116000209"],"URL":"https:\/\/doi.org\/10.1016\/j.path.2016.01.008","relation":{},"ISSN":["1875-9181"],"issn-type":[{"value":"1875-9181","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes","name":"articletitle","label":"Article Title"},{"value":"Surgical Pathology Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.path.2016.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}