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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,
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články
NLK
BioMedCentral
od 2000-12-01 do 2020-12-31
BioMedCentral Open Access
od 2000
Directory of Open Access Journals
od 2000
Free Medical Journals
od 2000
PubMed Central
od 2000 do 2020
Europe PubMed Central
od 2000
ProQuest Central
od 2009-01-01 do 2021-01-31
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2000-11-01
Medline Complete (EBSCOhost)
od 2000-01-01 do 2021-03-12
Health & Medicine (ProQuest)
od 2009-01-01 do 2021-01-31
ROAD: Directory of Open Access Scholarly Resources
od 2000
Springer Nature OA/Free Journals
od 2000-12-01 do 2020-12-31
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- adenom genetika patologie MeSH
- cytoskeletální proteiny genetika MeSH
- dítě MeSH
- dospělí MeSH
- fúzní onkogenní proteiny genetika MeSH
- hybridizace in situ fluorescenční MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské chromozomy, pár 15 genetika MeSH
- lidské chromozomy, pár 9 genetika MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace * MeSH
- nádory ledvin genetika patologie MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- receptor trkC genetika MeSH
- senioři MeSH
- translokace genetická MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články 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
Citace poskytuje 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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