title: Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.
abstract: This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases.
authors.affiliation: Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
authors.forename: Deborah F
authors.initials: DF
authors.lastname: DeLair
authors.affiliation: Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address: soslowr@mskcc.org.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Soslow
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D056733:Carney Complex / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004687:Enchondromatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D005833:Genital Neoplasms, Female / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D054973:Perivascular Epithelioid Cell Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
keywords: Carney complex; Cowden syndrome; Hereditary leiomyomatosis renal cell carcinoma syndrome; Maffucci syndrome; Nevoid basal cell carcinoma syndrome; Ollier disease; Tuberous sclerosis; von Hippel-Lindau