Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes

Surg Pathol Clin. 2016 Jun;9(2):269-87. doi: 10.1016/j.path.2016.01.008. Epub 2016 Apr 11.

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.

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.

Publication types

  • Review

MeSH terms

  • Basal Cell Nevus Syndrome / diagnosis
  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / pathology
  • Carney Complex / diagnosis
  • Carney Complex / genetics
  • Carney Complex / pathology
  • Diagnosis, Differential
  • Enchondromatosis / diagnosis
  • Enchondromatosis / genetics
  • Enchondromatosis / pathology
  • Female
  • Genital Neoplasms, Female / diagnosis*
  • Genital Neoplasms, Female / genetics
  • Genital Neoplasms, Female / pathology
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / pathology
  • Humans
  • Leiomyomatosis / diagnosis
  • Leiomyomatosis / genetics
  • Leiomyomatosis / pathology
  • Lymphangioleiomyomatosis / diagnosis
  • Lymphangioleiomyomatosis / genetics
  • Lymphangioleiomyomatosis / pathology
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology
  • Perivascular Epithelioid Cell Neoplasms / diagnosis
  • Perivascular Epithelioid Cell Neoplasms / genetics
  • Perivascular Epithelioid Cell Neoplasms / pathology
  • Prognosis
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology
  • Uterine Neoplasms / diagnosis
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / pathology
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / pathology

Supplementary concepts

  • Hereditary leiomyomatosis and renal cell cancer