| Literature DB >> 28463911 |
Antonio Cossu1, Milena Casula, Panagiotis Paliogiannis, Francesco Tanda, Grazia Palomba, Maria C Sini, Marina Pisano, Valentina Doneddu, Giuseppe Palmieri.
Abstract
Female adnexal tumors of probable Wolffian origin are rare gynecologic tumors with <90 cases reported in the current scientific literature. Their clinical features have been described extensively; less is known about the pathophysiological mechanisms and the molecular alterations underlying their development and growth. We performed a complete histopathologic examination and a systematic mutation analysis using a next-generation sequencing approach on 3 female adnexal tumors of probable Wolffian origin from the archives of our institution to detect possible genetic alterations and to explore their role in the development of these rare tumors. The 3 cases contained missense mutations in different genes belonging to distinct molecular pathways: CTNNB1 and MET mutations for the first case, PIK3CA for the second one, and BRAF and CDKN2A for the third one. Two variants with an unknown functional effect on the protein were found in KDR and TP53 genes. In conclusion, genetic heterogeneity was found in our series. No constant involvement of the most common pathways involved in tumorigenesis was found; nevertheless, further studies are necessary to confirm the results of this pilot study.Entities:
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Year: 2017 PMID: 28463911 DOI: 10.1097/PGP.0000000000000368
Source DB: PubMed Journal: Int J Gynecol Pathol ISSN: 0277-1691 Impact factor: 2.762