Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature.
There is a high risk of neoplasm in dysgenetic gonads. Classically, in Turner syndrome, only patients with 45, X/46, XY mosaicism karyotype or with a fragment of Y chromosome (45, X+mar) are at risk of developing gonadal tumor. A case of a dysgerminoma arisen on the dysgenetic gonad of a 45, X Turner patient in the absence of Y chromosome material at cytogenetic and molecular biology analysis is reported. Five cases of gonadal tumor with a pure 45, X chromosome constitution have been previously reported in the literature. In these cases only cytogenetic analysis was performed. This is the first case of an ovarian tumor in a 45, X Turner syndrome in which the presence of Y material can be ruled out by an extensive molecular analysis of the blood and the tumor.
Pierga
J Y
JY
Oncology Department, Saint Louis Hospital, Paris, France.
Giacchetti
S
S
Vilain
E
E
Extra
J M
JM
Brice
P
P
Espie
M
M
Maragi
J A
JA
Fellous
M
M
Marty
M
M
D000328:Adult; D015139:Blotting, Southern; D004407:Dysgerminoma / Q000737:chemistry / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D010051:Ovarian Neoplasms / Q000737:chemistry / Q000150:complications* / Q000473:pathology; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics