Cossu Antonio, Casula Milena, Paliogiannis Panagiotis, Tanda Francesco, Palomba Grazia, Sini Maria C, Pisano Marina, Doneddu Valentina, Palmieri Giuseppe
Operative Unit of Pathology (A.C., F.T., V.D.) Surgical Pathology Unit (P.P.), Department of Surgical, Microsurgical and Medical Sciences, University of Sassari Institute of Biomolecular Chemistry, Cancer Genetics Unit, C.N.R. (M.C., G.P., M.C.S., M.P., G.P.), Sassari, Italy.
Int J Gynecol Pathol. 2017 Nov;36(6):575-581. doi: 10.1097/PGP.0000000000000368.
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.
可能起源于中肾管的女性附件肿瘤是罕见的妇科肿瘤,目前科学文献中报道的病例不足90例。其临床特征已被广泛描述;而关于其发生发展的病理生理机制和分子改变却知之甚少。我们对本机构存档的3例可能起源于中肾管的女性附件肿瘤进行了完整的组织病理学检查,并采用二代测序方法进行了系统的突变分析,以检测可能的基因改变,并探讨它们在这些罕见肿瘤发生中的作用。这3例病例在属于不同分子途径的不同基因中存在错义突变:第一例为CTNNB1和MET突变,第二例为PIK3CA突变,第三例为BRAF和CDKN2A突变。在KDR和TP53基因中发现了两个对蛋白质功能影响未知的变异。总之,我们的系列研究发现了基因异质性。未发现肿瘤发生中最常见途径的持续参与;然而,需要进一步研究来证实这项初步研究的结果。