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Small cell variant of chromophobe renal cell carcinoma: Clinicopathologic and molecular-genetic analysis of 10 cases
J. Rogala, F. Kojima, R. Alaghehbandan, N. Ptakova, A. Bravc, S. Bulimbasic, D. Perez Montiel, M. Slisarenko, L. Ali, L. Kuthi, K. Pivovarcikova, K. Michalova, B. Bartovic, A. Bartos Vesela, O. Dolejsova, M. Michal, O. Hes
Language English Country Bosnia and Herzegovina
Document type Journal Article
NLK
Free Medical Journals
from 1998
PubMed Central
from 2004 to 2022
Europe PubMed Central
from 2006
Open Access Digital Library
from 2006-01-01
Medline Complete (EBSCOhost)
from 2008-08-01 to 2022-10-23
ROAD: Directory of Open Access Scholarly Resources
from 2008 to 2022
- MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Carcinoma, Renal Cell * genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Biomarkers, Tumor analysis genetics MeSH
- Kidney Neoplasms * genetics pathology MeSH
- Adenoma, Oxyphilic * diagnosis genetics pathology MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
The morphologic diversity of chromophobe renal cell carcinoma (ChRCC) is well-known. Aside from typical morphology, pigmented adenomatoid, multicystic and papillary patterns have been described. Ten cases of CHRCC composed of small cell population in various percentages were analysed, using morphologic parameters, immunohistochemistry and next-generation sequencing (NGS) testing. Patients were five males and five females, with age ranging from 40 to 78years. The size of tumors ranged from 2.2 cm to 11 cm (mean 5.17 cm). Small cell component comprised 10 to 80% of the tumor volume, while the remaining was formed by cells with classic ChRCC morphology. The immunohistochemical profile of the small cell component was consistent with typical ChRCC immunophenotype, with CD117 and CK7 positivity. Neuroendocrine markers were negative. Mutations of 13 genes were found: DCIER1, FGFR3, JAK3, SUFO, FAM46C, FANCG, MET, PLCG2, APC, POLE, EPICAM, MUTYH and AR. However, only the PLCG2 mutation is considered pathogenic.The small cell variant of ChRCC further highlights and expand upon existing morphologic heterogeneity spectrum. Recognition of small cell variant of CHRCC is not problematic in tumors, where the "classic" CHRCC component is present. However, in limited material (i.e., core biopsy), this may present a diagnostic challenge. Based on the limited follow-up data available, it appears that the small cell tumor component had no impact on prognosis, since there was no aggressive behavior documented. Awareness of this unusual pattern and applying additional sections to find classic morphology of ChRCC, as well as excluding neuroendocrine nature by immunohistochemistry, may help resolve difficult cases.
Department of Human Pathology Wakayama Medical University Wakayama Japan
Department of Pathology 'Carol Davila' University of Medicine and Pharmacy Bucharest Romania
Department of Pathology Charles University Prague Faculty of Medicine in Plzeň Pilsen Czech Republic
Department of Pathology General Hospital Slovenj Gradec Slovenia
Department of Pathology Institute Nacional de Cancerologia Mexico City Mexico
Department of Pathology University Hospital Centre Zagreb Zagreb Croatia
Department of Pathology University of Szeged Szeged Hungary
Department of Urology Charles University Prague Faculty of Medicine in Plzeň Pilsen Czech Republic
References provided by Crossref.org
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- $a The morphologic diversity of chromophobe renal cell carcinoma (ChRCC) is well-known. Aside from typical morphology, pigmented adenomatoid, multicystic and papillary patterns have been described. Ten cases of CHRCC composed of small cell population in various percentages were analysed, using morphologic parameters, immunohistochemistry and next-generation sequencing (NGS) testing. Patients were five males and five females, with age ranging from 40 to 78years. The size of tumors ranged from 2.2 cm to 11 cm (mean 5.17 cm). Small cell component comprised 10 to 80% of the tumor volume, while the remaining was formed by cells with classic ChRCC morphology. The immunohistochemical profile of the small cell component was consistent with typical ChRCC immunophenotype, with CD117 and CK7 positivity. Neuroendocrine markers were negative. Mutations of 13 genes were found: DCIER1, FGFR3, JAK3, SUFO, FAM46C, FANCG, MET, PLCG2, APC, POLE, EPICAM, MUTYH and AR. However, only the PLCG2 mutation is considered pathogenic.The small cell variant of ChRCC further highlights and expand upon existing morphologic heterogeneity spectrum. Recognition of small cell variant of CHRCC is not problematic in tumors, where the "classic" CHRCC component is present. However, in limited material (i.e., core biopsy), this may present a diagnostic challenge. Based on the limited follow-up data available, it appears that the small cell tumor component had no impact on prognosis, since there was no aggressive behavior documented. Awareness of this unusual pattern and applying additional sections to find classic morphology of ChRCC, as well as excluding neuroendocrine nature by immunohistochemistry, may help resolve difficult cases.
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