REVIEW ARTICLE
Review on significance of GDNF, PTCH1 and RNF213 in chromophobe renal cell carcinoma illustrated by the case of 71-years-old man
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
Submission date: 2019-06-11
Final revision date: 2019-09-02
Acceptance date: 2019-10-15
Publication date: 2020-10-25
Pol J Pathol 2020;71(3):195-199
KEYWORDS
TOPICS
ABSTRACT
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<T, p.A990V, allelic frequency 7%) RNF213 (NM_001256071: c.6967C<T, p.Q2323X, allelic frequency 7%). Our findings in relation to concise description of significance of GDNF, PTCH1, RNF213 supplement molecular characterization in area of gene profiling of renal cell carcinoma, chromophobe type, which is going to certainly deepen our knowledge on hazards in development of this peculiar kind of renal cancer.
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<T, p.A990V, allelic frequency 7%) RNF213 (NM_001256071: c.6967C<T, p.Q2323X, allelic frequency 7%). Our findings in relation to concise description of significance of GDNF, PTCH1, RNF213 supplement molecular characterization in area of gene profiling of renal cell carcinoma, chromophobe type, which is going to certainly deepen our knowledge on hazards in development of this peculiar kind of renal cancer.
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| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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