|
|
|
|
|
|
|
|
abstract
Ovarian carcinosarcomas (OCS), also known as malignant mixed mesodermal/Müllerian tumors, are rare neoplasms
(1%-4% of all malignant ovarian tumors) composed of high-grade
malignant epithelial and mesenchymal elements. OCS occurs in older
women. It is associated with a poor outcome and is usually not involved
in inherited cancer syndromes. We present 2 cases of OCS; one arising in
a patient with a pathogenetic BRCA1 mutation and the other in a woman
affected by Lynch Syndrome
(LS) carrying a MSH6 germline mutation. To the best of our knowledge,
this is the first time that this second type of case has been reported.
In this study, we investigated somatic impairment of the wild-type BRCA1
and MSH6 alleles in the OCS of these 2 patients. We also explored in
both OCS, the occurrence of TP53 loss of function, which is a genetic
alteration known to occur in BRCA-linked ovarian tumorigenesis but not
in LS tumors. Moreover, we also provide further data about the
histogenesis of OCS.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.