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ISSN: 1233-9687
Polish Journal of Pathology
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without publication fees
3/2020
vol. 71
 
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abstract:
Review paper

Review on significance of GDNF, PTCH1 and RNF213 in chromophobe renal cell carcinoma illustrated by the case of 71-years-old man

Artur Kowalik
1, 2, 3
,
Andrzej Wincewicz
4
,
Krzysztof Ossoliński
5
,
Sebastian Zięba
1
,
Janusz Kopczyński
6
,
Tadeusz Ossoliński
5
,
Stanisław S. Góźdź
7, 8
,
Mariusz Koda
9
,
Stanisław T. Sulkowski
9

1.
Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland
2.
Division of Medical Biology, Institute of Biology, Jan Kochanowski University, Kielce, Poland
3.
Department of Tumour Pathology, National Research Institute of Oncology, Krakow Branch, Krakow, Poland
4.
Specialist Medical Practice – Pathologist, Kielce, Poland
5.
Department of Urology, John Paul II Hospital, Independent Public Health Care Unit in Kolbuszowa, Poland
6.
Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland
7.
Department of Clinical Oncology, Jan Kochanowski University, Holy Cross Oncology Centre, Kielce, Poland
8.
Department of Prophylaxis and Cancer Epidemiology, Collegium Medicum, Jan Kochanowski University, Kielce, Poland
9.
Department of General Pathomorphology, Collegium Pathologicum, Medical University of Bialystok, Bialystok, Poland
Pol J Pathol 2020; 71 (3): 195-199
DOI: https://doi.org/10.5114/pjp.2020.99785
Online publish date: 2020/10/25
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Here we review the role of GDNF, PTCH1, RNF213 illustrated by a case of renal cell carcinoma, chromophobe type (pT2a 8th pTNM edition) of the left kidney of 71-year-old man. Status of potential hotspots in 409 tumor genes were studied by means of next generation sequencing (NGS) technology (IonTorrent –

Thermo Fisher Scientific, USA) using Ion AmpliSeq™ Comprehensive Cancer Panel. Next-generation sequencing (NGS) revealed mutations of GDNF (NM_001190468: c. 328C>T, p.R110W, allelic frequency 46%), PTCH1 (NM_001083607:c. 2969C
keywords:

GDNF, PTCH1, RNF213, chromophobe renal cell carcinoma
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