Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis

Artur Kowalik; Andrzej Wincewicz; Sebastian Zięba; Wojciech Baran; Janusz Kopczyński; Mariusz Koda; Stanisław Sulkowski; Stanisław Goźdź

doi:10.5114/pjp.2020.95418

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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1/2020
vol. 71

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abstract:

Case report

Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis

Artur Kowalik

^{1, 2}

,

Andrzej Wincewicz

²

,

Sebastian Zięba

¹

,

Wojciech Baran

³

,

Janusz Kopczyński

⁴

,

Mariusz Koda

⁵

,

Stanisław Sulkowski

⁵

,

Stanisław Goźdź

^{6, 7}

Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland

Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland

Department of Urology, Saint Raphael Voivodship Specialist Hospital, Checiny, Poland

Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland

Department of General Pathomorphology, Medical University of Bialystok, Bialystok, Poland

Department of Clinical Oncology, Holy Cross Oncology Centre, Kielce, Poland

Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

Pol J Pathol 2020; 71 (1): 69-74

DOI: https://doi.org/10.5114/pjp.2020.95418

Online publish date: 2020/05/20

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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.2285TG, 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.

keywords:

Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis

Artur Kowalik 1, 2 , Andrzej Wincewicz 2 , Sebastian Zięba 1 , Wojciech Baran 3 , Janusz Kopczyński 4 , Mariusz Koda 5 , Stanisław Sulkowski 5 , Stanisław Goźdź 6, 7

PARP1, RNF213, PAX8, KMT2C, MTRR, KMT2C, mesothelioma, testicular tunica vaginalis

Artur Kowalik

^{1, 2}

,

Andrzej Wincewicz

²

,

Sebastian Zięba

¹

,

Wojciech Baran

³

,

Janusz Kopczyński

⁴

,

Mariusz Koda

⁵

,

Stanisław Sulkowski

⁵

,

Stanisław Goźdź

^{6, 7}