Malignant struma ovarii: next-generation sequencing of six cases revealed Nras, Braf, and Jak3 mutations
| Autor: | Anna Nelva, Enrico Grosso, Marco Volante, Giuseppe Forte, Emanuela Arvat, Marco Gallo, Maria Scatolini, Mauro Papotti, Daniele Liscia, Francesca Maletta, Flora Cesario, Roberta Poli, Jasna Metovic |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Neuroblastoma RAS viral oncogene homolog
Proto-Oncogene Proteins B-raf endocrine system diseases Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Biology Gene mutation Thyroid cancer GTP Phosphohydrolases BRAF mutation JAK3 Next-generation sequencing RAS mutation Struma ovarii 03 medical and health sciences Cytokeratin 0302 clinical medicine Endocrinology medicine Humans Ovarian Teratoma Thyroid Neoplasms Ovarian Neoplasms Thyroid High-Throughput Nucleotide Sequencing Janus Kinase 3 Membrane Proteins Malignant Struma Ovarii medicine.disease medicine.anatomical_structure 030220 oncology & carcinogenesis Mutation Cancer research Female |
| Popis: | 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. 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. 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. 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. |
| Databáze: | OpenAIRE |
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