Metanephric adenoma: molecular study and review of the literature

Autor: Enrique Rodríguez-Zarco, Jesús Machuca-Aguado, Laura Macías-García, Ana Vallejo-Benítez, Juan José Ríos-Martín
Přispěvatelé: Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica
Rok vydání: 2022
Předmět:
Zdroj: Oncotarget. 13:387-392
ISSN: 1949-2553
DOI: 10.18632/oncotarget.28192
Popis: Introduction: Metanephric adenoma (MA) is an uncommon benign tumor accounting for 0.2–0.7% of adult renal epithelial neoplasms. The clinical course is often indolent, but diagnosis should not be delayed since clinical symptoms (hematuria, fever, palpable abdominal mass, and flank pain) may be non-specific and overlap with those of a malign renal neoplasm. We report on 4 cases of AM, for which morphological and mutational analysis were performed. Material and Methods: Immunohistochemical staining was performed on sections cut from paraffin blocks to assess expression of WT1, vimentin, racemase, CK7, CD10 and RCC. Testing for the BRAF gene mutation V600 was carried out using real-time PCR (Cobas® 4800). Results: In all four cases, tumors were visible as well-circumscribed, non encapsulated masses located in the renal cortex and extending towards the medulla. At immunohistochemical examination, tumor cells stained negative for CK7, CD10 and RCC and positive for both WT1 (nuclear, intense) and vimentin (cytoplasmic, intense, and diffuse). Molecular analysis revealed the BRAF gene mutation V600E in three cases and wild-type BRAF in the fourth. Conclusions: BRAF molecular mutation analysis may aid diagnosis in cases with atypical histological features, especially in small incisional biopsies when reassessment of surgical treatment may be considered.
Databáze: OpenAIRE