Carnevali Ileana W, Cimetti Laura, Sahnane Nora, Libera Laura, Cavallero Alessandra, Formenti Giorgio, Riva Cristina, Tibiletti Maria Grazia
Unit of Pathology (I.W.C., C.L., S.N., L.L., C.R., M.G.T.), Ospedale di Circolo Varese-University of InsubriaUnit of Pathology (A.C.), Ospedale Sant'Anna ComoGynaecologic and Obstetric Clinic, University of Insubria (G.F.), Ospedale di Circolo, Varese, Italy.
Int J Gynecol Pathol. 2017 Jan;36(1):64-70. doi: 10.1097/PGP.0000000000000290.
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.
卵巢癌肉瘤（OCS），也称为恶性混合中胚层/苗勒氏肿瘤，是一种罕见的肿瘤（占所有恶性卵巢肿瘤的1%-4%），由高级别恶性上皮和间充质成分组成。OCS发生于老年女性。其预后较差，通常不涉及遗传性癌症综合征。我们报告2例OCS；1例发生于携带致病性BRCA1突变的患者，另1例发生于携带MSH6种系突变的林奇综合征（LS）女性患者。据我们所知，这是首次报道第二种类型的病例。在本研究中，我们调查了这2例患者OCS中野生型BRCA1和MSH6等位基因的体细胞损伤情况。我们还在这2例OCS中探究了TP53功能丧失的发生情况，这是一种已知发生于BRCA相关卵巢肿瘤发生过程中但未见于LS肿瘤的基因改变。此外，我们还提供了关于OCS组织发生的更多数据。
