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KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas
A. Catic, A. Kurtovic-Kozaric, A. Sophian, L. Mazur, F. Skenderi, O. Hes, S. Rohan, D. Rakheja, J. Kogan, MR. Pins,
Language English Country Great Britain
Document type Journal Article
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BioMedCentral
from 2000-12-01 to 2020-12-31
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- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Adenoma genetics pathology MeSH
- Cytoskeletal Proteins genetics MeSH
- Child MeSH
- Adult MeSH
- Oncogene Proteins, Fusion genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 15 genetics MeSH
- Chromosomes, Human, Pair 9 genetics MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation * MeSH
- Kidney Neoplasms genetics pathology MeSH
- Proto-Oncogene Proteins B-raf genetics MeSH
- Receptor, trkC genetics MeSH
- Aged MeSH
- Translocation, Genetic MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children. Despite recent advancements in tumor genomics, there is limited data available regarding the genetic alterations characteristic of MA. The purpose of this study is to determine the frequency of metanephric adenoma cases exhibiting cytogenetic aberration t (9;15)(p24;q24), and to investigate the association between t (9,15) and BRAF mutation in metanephric adenoma. METHODS: This study was conducted on 28 archival formalin fixed paraffin-embedded (FFPE) specimens from patients with pathologically confirmed MA. Tissue blocks were selected for BRAF sequencing and fluorescent in situ hybridization (FISH) analysis for chromosomal rearrangement between KANK1 on chromosome 9 (9p24.3) and NTRK3 on chromosome 15 (15q25.3), which was previously characterized and described in two MA cases. RESULTS: BRAFV600E mutation was identified in 62% of our cases, 9 (38%) cases were BRAFWT, and 4 cases were uninformative. Of the 20 tumors with FISH results, two (10%) were positive for KANK1-NTRK3 fusion. Both cases were BRAFWT suggesting mutual exclusivity of BRAFV600E and KANK1-NTRK3 fusion, the first such observation in the literature. CONCLUSIONS: Our data shows that BRAF mutation in MA may not be as frequent as suggested in the literature and KANK-NTRK3 fusions may account for a subset of BRAFWT cases in younger patients. FISH analysis for KANK1-NTRK3 fusion or conventional cytogenetic analysis may be warranted to establish the diagnosis of MA in morphologically and immunohistochemically ambiguous MA cases lacking BRAF mutations.
Department of Cytogenetics ACL Laboratories Rosemont IL USA
Department of Pathology Charles University Hospital Pilsen Pilsen Czech Republic
References provided by Crossref.org
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- $a Catic, Aida $u Department of Cytogenetics, ACL Laboratories, Rosemont, IL, USA. aida.catic.00@gmail.com. Department of Genetics and Bioengineering, International Burch University, Francuske revolucije bb, Ilidza, 71000, Sarajevo, Bosnia and Herzegovina. aida.catic.00@gmail.com.
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- $a BACKGROUND: Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children. Despite recent advancements in tumor genomics, there is limited data available regarding the genetic alterations characteristic of MA. The purpose of this study is to determine the frequency of metanephric adenoma cases exhibiting cytogenetic aberration t (9;15)(p24;q24), and to investigate the association between t (9,15) and BRAF mutation in metanephric adenoma. METHODS: This study was conducted on 28 archival formalin fixed paraffin-embedded (FFPE) specimens from patients with pathologically confirmed MA. Tissue blocks were selected for BRAF sequencing and fluorescent in situ hybridization (FISH) analysis for chromosomal rearrangement between KANK1 on chromosome 9 (9p24.3) and NTRK3 on chromosome 15 (15q25.3), which was previously characterized and described in two MA cases. RESULTS: BRAFV600E mutation was identified in 62% of our cases, 9 (38%) cases were BRAFWT, and 4 cases were uninformative. Of the 20 tumors with FISH results, two (10%) were positive for KANK1-NTRK3 fusion. Both cases were BRAFWT suggesting mutual exclusivity of BRAFV600E and KANK1-NTRK3 fusion, the first such observation in the literature. CONCLUSIONS: Our data shows that BRAF mutation in MA may not be as frequent as suggested in the literature and KANK-NTRK3 fusions may account for a subset of BRAFWT cases in younger patients. FISH analysis for KANK1-NTRK3 fusion or conventional cytogenetic analysis may be warranted to establish the diagnosis of MA in morphologically and immunohistochemically ambiguous MA cases lacking BRAF mutations.
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- $a Kurtovic-Kozaric, Amina $u Department of Genetics and Bioengineering, International Burch University, Francuske revolucije bb, Ilidza, 71000, Sarajevo, Bosnia and Herzegovina. Department of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
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