Background: Langerhans cell histiocytosis (LCH) is more common in children than adults and involves many organs. In children, the BRAF V600E mutation is associated with recurrent and high-risk LCH. Methods: We collected paraffin blocks of 94 pediatric LCH patients to detect BRAF V600E mutation by sequencing. The relationship between BRAF V600E status and clinicopathological parameters were also critically analyzed. Results: BRAF V600E mutation exon 15 was detected in 45 cases (47.9%). Multiple systems LCH showed a significantly higher BRAF V600E mutation rate than a single system (p = .001). No statistical significance was evident for other clinical characteristics such as age, sex, location, risk organs involvement, and CD1a expression. Conclusions: In Vietnamese LCH children, the proportion of BRAF V600E mutational status was relatively high and related to multiple systems.
Introduction: Pediatric gastric adenocarcinoma (GAC) is sporadic with limited relevant data, and gastric adenocarcinoma, which presents as submucosal, has seldom been reported. The clinical presentation and outcome have not yet been thoroughly understood.
Case presentation: Two boys (10 and 14-year-old) were admitted to the hospital with severe malnutrition. Abdominal CT demonstrated the tumor protruding into the stomach, irregular border, and peritoneal metastasis. Gastric biopsies showed pleomorphic cells, variable size, and increased N/C ratio. These cells were arranged into sheet growth patterns, clusters of cells or incomplete tubules with neutrophils infiltrating. The malignant cells showed strong expression of CK, negativity for CD99, NSE, myogenin, CD3, CD20, ALK, and CD30. Both cases were consistent with poorly differentiated gastric adenocarcinomas, diffuse type with lymphovascular invasion.
Discussion and Conclusion: Pediatric GAC presented with a more advanced stage and poor differentiation. However, the clinical presentation is similar to adult GAC. Because of data limitations, the diagnosis and treatment of pediatric GAC remain a significant challenge. GAC should be kept in mind, especially when a submucosal tumor-like lesion appears in the stomach. Additional molecular investigations, including E-cadherin or HER2 testing of the tumor samples, may offer more treatment choices for these patients.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.