Metanephric tumors
2022-11-30 Paola Dal Cin, PhD , Michelle S. Hirsch, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
BRAF V600E mutationClassification
Definition
The metanephric tumor family comprises a group of uncommon renal tumors, containing renal epithelial cells or stromal cells or both. Two of these entities, metanephric stromal tumor (MST) and metanephric adenofibroma (MAF) predominantly affect children, whereas metanephric adenoma is most frequently seen in middle-aged females. BRAF V600E mutation is the most frequent genetic marker in this group of tumors.
| Metanephric tumors | Genetic event(s) | |
|---|---|---|
| Metanephric adenoma (MA) | Patient ages ranged from 5 to 83 years, but most patients are in their fifth or sixth decade of life. There is a distinct female predominance .1 | |
| BRAF V600E mutation in 80% of the cases . Variant BRAF mutations were also reported. 2,3 Genetic evidence for potential malignant evolution by acquiring pathogenic alterations in addition to BRAF, TERT promotor mutation, loss of CDNK2A and MYC amplification. 4 | ||
| t(9;15)(p24;q24)/KANK1::NTRK3, lacking BRAF mutation mainly in young patients. 5 Recurrent gain of chr 19p by array CGH, most frequently reported 1,6 | ||
| Metanephric adenofibroma | BRAF V600E mutation in isolated cases, predominatly affecting children. 7 | |
| Metanephric stromal tumor (MST) | BRAFV600E mutations in most of the cases, predominantly affecting children, 7 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 34009777 | 2021 | Key Renal Neoplasms With a Female Predominance. | Baniak N et al |
| 2 | 30111351 | 2018 | Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases. | Ding Y et al |
| 3 | 35198098 | 2022 | Metanephric adenoma: molecular study and review of the literature. | Rodríguez-Zarco E et al |
| 4 | 32064677 | 2020 | Molecular characterisation of metanephric adenomas beyond BRAF: genetic evidence for potential malignant evolution. | Chan E et al |
| 5 | 33046021 | 2020 | KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas. | Catic A et al |
| 6 | 20802469 | 2010 | Detection of chromosome copy number alterations in metanephric adenomas by array comparative genomic hybridization. | Pan CC et al |
| 7 | 27769870 | 2017 | BRAF exon 15 mutations in pediatric renal stromal tumors: prevalence in metanephric stromal tumors. | Marsden L et al |
Citation
Paola Dal Cin, PhD ; Michelle S. Hirsch, MD
Metanephric tumors
Atlas Genet Cytogenet Oncol Haematol. 2022-11-30
Online version: http://atlasgeneticsoncology.org/solid-tumor/208965/metanephric-tumors
