title: Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications.
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.
authors.affiliation: Interinstitute Medical Genetics Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: H C
authors.initials: HC
authors.lastname: Andersson
authors.forename: D M
authors.initials: DM
authors.lastname: Parry
authors.forename: J J
authors.initials: JJ
authors.lastname: Mulvihill
mesh_terms: D000328:Adult; D000368:Aged; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008204:Lymphangiosarcoma / Q000150:complications / Q000235:genetics*; D008209:Lymphedema / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications / Q000235:genetics*; D010375:Pedigree