Metanephric stromal tumor in children with BRAF V600E gene mutation: a case report and literature review
10.3760/cma.j.cn101070-20230424-00322
- VernacularTitle:伴 BRAF V600E基因突变的儿童后肾间质瘤1例并文献复习
- Author:
Shuting MAO
1
;
Dao WANG
;
Bai LI
;
Shanshan LIU
;
Linlin WEI
;
Shufang SU
;
Yan XU
;
Ya′nan MA
;
Ge ZHOU
;
Yufeng LIU
Author Information
1. 郑州大学第一附属医院儿科，郑州 450052
- Keywords:
Pathology;
Metanephric stromal tumour;
Child;
BRAF V600E gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(4):306-310
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of one child with metanephric stromal tumor (MST) and BRAF V600E gene mutation admitted to the First Affiliated Hospital of Zhengzhou University in June 2022 was analyzed retrospectively.Literature was reviewed.The patient, a 2-year-old girl, was diagnosed with a tumor in the left abdomen.The maximum diameter of the tumor was 10.5 cm.A radical nephrectomy was performed on the left kidney, and postoperative pathology revealed MST.Microscopically, the tumor had no envelope and exhibited expansive growth.The tumor cells were fusiform or stellate, and nuclear division was visible in the cell-rich region.Dysplastic blood vessels were seen inside the tumor.The tumor cells around the blood vessels and invaginated renal tubules were arranged like onion skin.CD34 was detected positive by immunohistochemical staining, and BRAF V600E mutation was also detected positive by fluorescent polymerase chain reaction.A total of 21 relevant case reports were retrieved, including 16 in English and 5 in Chinese.Fifty-eight MST patients, including the one in this report were analyzed.These patients were aged 2 days to 15 years, with a median age of 2 years.Except for 2 patients with unknown sex, the ratio of male to female was about 1.4∶1.0.Most MST patients were asymptomatic, with an average tumor size of 5.3 cm.The tumor cell CD34 showed positive expression in different degrees.Eight patients received the BRAF V600E mutation detection, and the results were all positive.Fifty-eight patients underwent nephrectomy and were followed up for 0-156 months, of which 7 patients were assisted with radiotherapy and chemotherapy.During the follow-up, 1 patient died, and 1 patient had a relapse.MST is a rare benign renal stromal tumor. BRAF V600E mutations are detected in a variety of malignancies.This paper is the first to report MST with BRAF V600E mutation in China and points out the importance of molecular detection of BRAF mutation for accurate diagnosis of MST.
