Objective To explore the clinical characteristics of Langerhans cell histiocytosis(LCH)and the correlation between BRAF V600E gene mutation and prognosis.Methods Tissue samples from 17 patients with LCH were selected,all of which were originated in the site of the first lesion.The clinical and histopathological features were analyzed.The BRAFV600E genes in the samples were determined by digital PCR amplification and first-generation sequencing.The samples were divided into the single-system disease(SS-LCH)group and the multi-system disease(MS-LCH)group according to clinical classification,and the juvenile group and the adult group according to age.The data of the treatment and curative effects from all the groups was analyzed.Results Out of 17 patients with LCH,there wre 7 cases with a BRAF V600E gene mutation;the total positive rate was 41.18％.According to clinical classification,there were 13 cases in SS-LCH group and 7 cases of BRAF V600E gene mutation;the positive rate was 53.85％,while there was no BRAF V600E gene mutation in MS-LCH group.And out of the 12 cases in the minor group,there were 5 cases with BRAF V600E gene mutation,with a positive rate of 41.67％,while the mutation rate under 3 years old was higher than that over 3 years old(2:1),and out of the 5 cases in the adult group,there were 2 cases of BRAF V600E gene mutation,with a positive rate of 40％.After treatment and follow-up,all the patients of SS-LCH group were cured;one case died and 3 cases relapsed in MS-LCH group,and the recurrent patients continued their treatment.At present,16 patients survived;More organs were affected in patients of recurrence and dead cases and all of them were from the juvenile group.Other patients were cured;and there is no recurrence at present.Conclusion The clinical manifestations of LCH are complex and diverse,and they may be related to the single systems or multiple systems.There is no significant difference in the mutation rate of the BRAF V600E genes between minors and adults,but the mutation rate of the BRAF V600E genes of children under 3 years old tend to increase,and there is no statistical difference in the effect of the BRAF V600E gene mutation on prognosis.
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