Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

Am J Med Sci. 2020 Dec;360(6):724-727. doi: 10.1016/j.amjms.2020.05.048. Epub 2020 Jun 3.

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.

Keywords: HLRCC; Hereditary leiomyomatosis and renal cell cancer; Reed's syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Carcinoma, Renal Cell / etiology
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Leiomyomatosis / complications
  • Leiomyomatosis / diagnosis*
  • Leiomyomatosis / genetics
  • Leiomyomatosis / therapy
  • Male
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / complications
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / therapy
  • Pedigree
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / therapy
  • Syndrome
  • Uterine Neoplasms / complications
  • Uterine Neoplasms / diagnosis*
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / therapy
  • Young Adult

Supplementary concepts

  • Hereditary leiomyomatosis and renal cell cancer