title: Fragile X syndrome and neoplasia.
abstract: Among 100 males with fragile X [fra(X)] or Martin-Bell syndrome, two have developed malignancies. The first case, a 57-year-old man with fra(X) expression in 12% of peripheral blood lymphocytes, developed a seminoma of the left testis at age 45 years and in the right testis at age 50 years. The second case, a 16-year-old white boy with fra(X) expression in 23% of lymphocytes, developed a mucin-producing adenocarcinoma of the colon at age 14 years. Because of the unusual nature of the tumors observed in these patients and in 2 other patients from the literature, we suggest that individuals with the fra(X) syndrome may be at increased risk of cancer.
authors.affiliation: Greenwood Genetic Center, South Carolina 29646.
authors.forename: M C
authors.initials: MC
authors.lastname: Phelan
authors.forename: R E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: J L
authors.initials: JL
authors.lastname: Collins
authors.forename: H E
authors.initials: HE
authors.lastname: Trent
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000235:genetics; D000293:Adolescent; D003110:Colonic Neoplasms / Q000235:genetics; D004407:Dysgerminoma / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000150:complications*; D013736:Testicular Neoplasms / Q000235:genetics