Malignant struma ovarii: next-generation sequencing of six cases revealed Nras, Braf, and Jak3 mutations
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ORIGINAL ARTICLE
Malignant struma ovarii: next-generation sequencing of six cases revealed Nras, Braf, and Jak3 mutations Poli Roberta 1 Scatolini Maria 2 Grosso Enrico2 Maletta Francesca3 Gallo Marco4 Liscia Daniele5 Nelva Anna6 Cesario Flora7 Forte Giuseppe8 Metovic Jasna9 Volante Marco9 Arvat Emanuela10 Papotti Mauro9 ●
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Received: 1 June 2020 / Accepted: 25 July 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose Struma ovarii (SO) is a highly specialized ovarian teratoma, consisting of thyroid tissue. Rarely, carcinomas histologically identical to their thyroid counterparts may occur, and are comprehensively defined as malignant struma ovarii (MSO). Their optimal management is controversial, and the molecular profile of the malignant counterpart in the ovary is incompletely known. In this study, the clinicopathological and molecular features of six MSO from different Italian Institutions were analysed, to explore genetic profiles of potential therapeutic interest. Methods The histopathological features and immunoprofile (according to the known markers Galectin-3, HBME1, cytokeratin 19 and CD56) were reviewed. In addition, all cases underwent genetic analysis with a next-generation sequencing (NGS) hot spot cancer panel detecting mutations in 50 genes involved in cancerogenesis. RET/PTC rearrangements and TERT promoter alterations were also evaluated. Results Papillary carcinoma in all similar to its thyroid counterpart was found in five of six cases, including classical (two tumors) and follicular variant (three tumors) types. The last case was a poorly differentiated carcinoma. An activating gene mutation, was detected in five of six cases, including two NRAS, two BRAF, and one JAK3 oncogene mutations. No alterations were found in the other panel genes, nor in TERT promoter, or in RET chromosomal regions. Conclusions MSO is a rare condition. Papillary carcinoma is the predominant malignant type, sharing both histomorphological and molecular features of its thyroid counterpart. Interestingly, the single case of poorly differentiated carcinoma displayed a JAK3 mutation. The presence of such driving mutation could be of potential interest in guiding postoperative treatment. Keywords Struma ovarii RAS mutation BRAF mutation JAK3 Thyroid cancer Next-generation sequencing ●
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Supplementary information The online version of this article (https:// doi.org/10.1007/s12020-020-02438-7) contains supplementary material, which is available to authorized users. * Poli Roberta [email protected]
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Endocrinology and Diabetology Unit, Ospedale degli Infermi, via dei Ponderanesi 2 Ponderano, 13875 Biella, Italy
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Division of Internal Medicine, Ospedale degli Infermi, via dei Ponderanesi 2 Ponderano, 13875 Biella, Italy
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Division of Endocrinology, Diabetes and Metabolism, Santa Croce e Carle Hospital, Cuneo, Italy
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Molecular Oncology Laboratory, Fondazione “Edo ed Elvo Tempia Valenta”, via dei Ponderanesi
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