Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications

Am J Med Genet. 1995 Mar 13;56(1):72-5. doi: 10.1002/ajmg.1320560116.

Abstract

Hereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non-syndromic hereditary lymphedemas are categorized by their age of onset, being either congenital (Milroy disease) or having an onset in childhood or around puberty (Meige disease). We describe a family in which three individuals in three generations had unusually late onset of lymphedema in their mid-twenties or thirties. The proband additionally developed a very rare lymphangiosarcoma. This tumor, usually associated with post-mastectomy lymphedema, has not been described in late-onset hereditary lymphedema. Because of an unusually high incidence of multiple primary tumors in association with lymphangiosarcoma in the literature (approximately 10%) and the proband's own familial cancer background, we speculate that an inherited predisposition to malignancy may underlie the development of lymphedema-associated lymphangiosarcoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Aged
  • Fatal Outcome
  • Female
  • Genes, Dominant
  • Humans
  • Lymphangiosarcoma / complications
  • Lymphangiosarcoma / genetics*
  • Lymphedema / complications
  • Lymphedema / genetics*
  • Male
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / complications
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree