Pathology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina.
Precision Medicine Coordination, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina.
Pediatr Blood Cancer. 2021 Jul;68(7):e29115. doi: 10.1002/pbc.29115. Epub 2021 May 15.
Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAF mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAF mutation was detected either in the diagnosis (skin and bone) or liver biopsy in our cohort of 13 patients. Thus, we observed a high incidence of BRAF mutation in 100% either in diagnostic biopsy (skin and bone) or liver biopsy in patients with progressive liver disease, sequela, or liver transplant requirement.
靶向治疗药物联合 MAPK 抑制剂已被证明可以调节朗格汉斯细胞组织细胞增生症（LCH）患者的临床表现。我们在一组患有 LCH 并伴有胆汁淤积、硬化性胆管炎或肝纤维化的患者中，对 BRAF 突变的存在进行了探索，这些患者对化疗有耐药性。我们在这组 13 名患者的诊断（皮肤和骨骼）或肝活检中检测到 BRAF 突变。因此，我们发现，在患有进行性肝病、后遗症或需要肝移植的患者中，无论是在诊断性活检（皮肤和骨骼）还是在肝活检中，BRAF 突变的发生率均高达 100%。
