Abstract
3/2020
vol. 71
Review paper
Review on significance of GDNF, PTCH1 and RNF213 in chromophobe renal cell carcinoma illustrated by the case of 71-years-old man
- Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland
- Division of Medical Biology, Institute of Biology, Jan Kochanowski University, Kielce, Poland
- Department of Tumour Pathology, National Research Institute of Oncology, Krakow Branch, Krakow, Poland
- Specialist Medical Practice – Pathologist, Kielce, Poland
- Department of Urology, John Paul II Hospital, Independent Public Health Care Unit in Kolbuszowa, Poland
- Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland
- Department of Clinical Oncology, Jan Kochanowski University, Holy Cross Oncology Centre, Kielce, Poland
- Department of Prophylaxis and Cancer Epidemiology, Collegium Medicum, Jan Kochanowski University, Kielce, Poland
- Department of General Pathomorphology, Collegium Pathologicum, Medical University of Bialystok, Bialystok, Poland
Pol J Pathol 2020; 71 (3): 195-199
Online publish date: 2020/10/25
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
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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