Abstract
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.
Highlights
Langerhans 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
LCH presents in patients of all ages but most prevalent in children, with 3.5 years old being the medium age of diagnosis [1]
This study detected the frequency of BRAF V600E mutation in Formalin-fixed paraffin-embedded (FFPE) tissue and peripheral blood samples from pediatric LCH patients of Chinese origin
Summary
Langerhans 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. LCH presents in patients of all ages but most prevalent in children, with 3.5 years old being the medium age of diagnosis [1]. The clinical manifestations depend on the specific organs involved and the extent of involvement, varying remarkably from spontaneously regressing lesions in isolated organs to fatal diseases in multiple systems [3]. Two-thirds of children present with single-system involvement, which has an excellent prognosis and a 5-year survival rate of virtually 100%. LCH involving risk organs at diagnosis is considered a high-risk disease, especially with organ dysfunctions [1, 7]
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