Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis
oleh: Artur Kowalik, Andrzej Wincewicz, Sebastian Zięba, Wojciech Baran, Janusz Kopczyński, Mariusz Koda, Stanisław Sulkowski, Stanisław Goźdź
| Format: | Article |
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| Diterbitkan: | Termedia Publishing House 2020-05-01 |
Deskripsi
Molecular next gene sequencing was used to evaluate mutations in 409 common mutated cancer-related genes in malignant mesothelioma of tunica vaginalis testis (MMTVT) of 81-year-old man. Multifocal papillary-solid areas contained necrosis among highly cellular fields with multiple mitoses. It was positive for WT1, CKAE1/AE3, calretinin, CK7 with negativity for CK5, PSA, TTF-1. Following mutations were revealed in PARP1 (NM_001618: c.2285T<C p.V762A), RNF213 (NM_001256071: c.3121G G, p.K135R), MTRR (NM_024010: c.147A>G, p.I49M) and two sorts of mutations in structure of KMT2C gene (NM_170606: c.2447_2448insA (c.2447dupA), p.Y816fs and NM_170606: c.1042G>A, p.D348N) for the first time in MMTVT.