期刊论文详细信息
Orphanet Journal of Rare Diseases
Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing
Jing Cao1  Shunqiao Feng1  Mei Yue1  Rong Liu1  Dixiao Zhong1  Xiaodai Cui2  Hao Zhang3  Lin Han3  Zhenhua Cao3  Yanling Sun3  Yibing Guo3 
[1] Department of Hematology, Children’s Hospital of Capital Institute of Pediatrics, 100020, Beijing, China;Department of Key Laboratory, Children’s Hospital of Capital Institute of Pediatrics, 100020, Beijing, China;Running Gene Inc, Beijing, China;
关键词: Langerhans cell histiocytosis;    BRAF;    Next-generation sequencing;    Pediatrics;    Biopsy tissue;   
DOI  :  10.1186/s13023-021-01912-3
来源: Springer
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【 摘 要 】

BackgroundLangerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations between BRAF V600E mutation and clinicopathological manifestations, but no clear conclusions have been drawn regarding the clinical significance of the mutation in pediatric patients.ResultsWe retrieved the clinical information for 148 pediatric LCH patients and investigated the BRAF V600E mutation using next-generation sequencing alone or with droplet digital PCR. The overall positive rate of BRAF V600E was 60/148 (41%). The type of sample (peripheral blood and formalin-fixed paraffin-embedded tissue) used for testing was significantly associated with the BRAF V600E mutation status (p-value = 0.000 and 0.000). The risk of recurrence declined in patients who received targeted therapy (p-value = 0.006; hazard ratio 0.164, 95%CI: 0.046 to 0.583). However, no correlation was found between the BRAF V600E status and gender, age, stage, specific organ affected, TP53 mutation status, masses close to the lesion or recurrence.ConclusionsThis is the largest pediatric LCH study conducted with a Chinese population to date. BRAF V600E in LCH may occur less in East Asian populations than in other ethnic groups, regardless of age. Biopsy tissue is a more sensitive sample for BRAF mutation screening because not all of circulating DNA is tumoral. Approaches with low limit of detection or high sensitivity are recommended for mutation screening to avoid type I and II errors.

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