J. Rogala, F. Kojima, R. Alaghehbandan, N. Ptáková, Ana Bravc, S. Bulimbasic, D. Perez Montiel, Maryna Slisarenko, L. Ali, Levente Kuthi, K. Pivovarcikova, Květoslava Michalová, Boris Bartovic, Adriena Bartos Vesela, O. Dolejsova, M. Michal, O. Hes
{"title":"嫌色肾细胞癌小细胞变异:10例临床病理及分子遗传学分析","authors":"J. Rogala, F. Kojima, R. Alaghehbandan, N. Ptáková, Ana Bravc, S. Bulimbasic, D. Perez Montiel, Maryna Slisarenko, L. Ali, Levente Kuthi, K. Pivovarcikova, Květoslava Michalová, Boris Bartovic, Adriena Bartos Vesela, O. Dolejsova, M. Michal, O. Hes","doi":"10.17305/bjbms.2021.6935","DOIUrl":null,"url":null,"abstract":"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 analyzed, using morphologic parameters, immunohistochemistry, and next-generation sequencing testing. Patients were five males and five females, with age ranging from 40 to 78 years. 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 expands on 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.","PeriodicalId":9147,"journal":{"name":"Bosnian journal of basic medical sciences","volume":"22 1","pages":"531 - 539"},"PeriodicalIF":3.4000,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Small cell variant of chromophobe renal cell carcinoma: Clinicopathologic and molecular-genetic analysis of 10 cases\",\"authors\":\"J. Rogala, F. Kojima, R. Alaghehbandan, N. Ptáková, Ana Bravc, S. Bulimbasic, D. Perez Montiel, Maryna Slisarenko, L. Ali, Levente Kuthi, K. Pivovarcikova, Květoslava Michalová, Boris Bartovic, Adriena Bartos Vesela, O. Dolejsova, M. Michal, O. Hes\",\"doi\":\"10.17305/bjbms.2021.6935\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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 analyzed, using morphologic parameters, immunohistochemistry, and next-generation sequencing testing. Patients were five males and five females, with age ranging from 40 to 78 years. 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 expands on 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.\",\"PeriodicalId\":9147,\"journal\":{\"name\":\"Bosnian journal of basic medical sciences\",\"volume\":\"22 1\",\"pages\":\"531 - 539\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2022-03-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bosnian journal of basic medical sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17305/bjbms.2021.6935\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bosnian journal of basic medical sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17305/bjbms.2021.6935","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Small cell variant of chromophobe renal cell carcinoma: Clinicopathologic and molecular-genetic analysis of 10 cases
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 analyzed, using morphologic parameters, immunohistochemistry, and next-generation sequencing testing. Patients were five males and five females, with age ranging from 40 to 78 years. 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 expands on 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.
期刊介绍:
The Bosnian Journal of Basic Medical Sciences (BJBMS) is an international, English-language, peer reviewed journal, publishing original articles from different disciplines of basic medical sciences. BJBMS welcomes original research and comprehensive reviews as well as short research communications in the field of biochemistry, genetics, immunology, microbiology, pathology, pharmacology, pharmaceutical sciences and physiology.