Clinicopathological features of adult Wilms tumor with BRAF V600E mutation.
10.3760/cma.j.cn112151-20230908-00154
- VernacularTitle:BRAF V600E突变在成人肾母细胞瘤中的临床病理学分析
- Author:
H L GAN
1
,
2
,
3
;
Q F WANG
1
,
2
,
3
;
X L ZHU
1
,
2
,
3
;
H LYU
1
,
2
,
3
;
J WANG
1
,
2
,
3
Author Information
1. Department of Pathology, Fudan University Shanghai Cancer Center
2. Department of Oncology, Shanghai Medical College, Fudan University
3. Institute of Pathology, Fudan University, Shanghai 200032, China.
- Publication Type:Journal Article
- MeSH:
Adult;
Humans;
Proto-Oncogene Proteins B-raf/genetics*;
China;
Wilms Tumor/genetics*;
Kidney Neoplasms/pathology*;
Mutation;
Adenoma/genetics*;
Biomarkers, Tumor/genetics*
- From:
Chinese Journal of Pathology
2023;52(12):1210-1215
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To identify BRAF V600E mutations in adult Wilms tumor (WT) with overlapping histologic features of metanephric adenoma (MA) and to investigate the clinicopathological features of adult WT. Methods: The clinical features of adult WT diagnosed at the Fudan University Shanghai Cancer Center, Shanghai, China from 2012 to 2021 were reviewed. HE-stained slides of all cases were reviewed by 2 expert pathologists. Representative tissues were selected for BRAF V600E immunohistochemical (IHC) staining and gene sequencing. Results: In adult WT with MA-like areas (cohort Ⅰ, n=6), 5 of the 6 cases were composed of epithelial-predominant and were positive for WT-1 and CD56, respectively, and all were positive for CD57. All 6 cases revealed highly variable Ki-67 indices, ranging from 1% in some areas to 60% in others. 5 of the 6 cases harbored a BRAF V600E mutation. All cases in cohort I were followed up for 23 to 71 months, and all survived. In classical adult WT without MA-like areas cohort (cohort Ⅱ, n=13), all 7 cases with available material were negative for BRAF by IHC and none of them had any BRAF mutation. Conclusions: BRAF V600E mutations are frequently present in adult WT with overlapping morphologically features of MA, but not in those without. More importantly, adult WTs with overlapping histologic features of MA may be an intermediate entity between typical MA and WT that may have a favorable prognosis and possible therapeutic targets.
