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KMID : 0387820220290020097
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Clinical Pediatric Hematology-Oncology
2022 Volume.29 No. 2 p.97 ~ p.101
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Improvement of Neurodegenerative Disease after Use of Vemurafenib in Refractory BRAF V600E-Mutated Langerhans Cell Histiocytosis: A Case Report
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Koh Young-Kwon
Yoon Su-Hyun
Kang Sung-Han
Kim Hye-Ry
Im Ho-Joon
Kim Pyeong-Hwa
Jung Ah-Young
Koh Kyung-Nam
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Abstract
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Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by het-erogenous lesions infiltrated with CD1a+/CD207+ cells. Although LCH has a relatively good prognosis, the prognosis for patients with LCH refractory to standard chemo-therapy is poor. Neurodegenerative LCH (ND-LCH) is a central nervous system com-plication of LCH that is characterized by progressive radiological and clinical abnormalities. Symptomatic ND-LCH is difficult to treat and therefore has a poor prognosis. A two-year-old boy presented with a scalp mass. Biopsy confirmed LCH. Whole-body imaging revealed LCH involvement in multiple bones of the skull, facial bones, and lungs. Prednisolone and vinblastine chemotherapy was initiated. One-year post-treatment, most of the lesions in the bones and lung nodules dis-appeared, and chemotherapy was discontinued. New neurodegenerative lesions ap-peared 4 months after chemotherapy was discontinued. Second-line chemotherapy using cytarabine, vincristine, and prednisolone was initiated. However, neurological manifestations of ND-LCH worsened post second-line treatment, and the treatment was switched to cytarabine and cladribine. Despite third-line chemotherapy, the le-sions progressed, and neurological deficits worsened. After identifying BRAF V600E mutation in the tumor tissue using next-generation sequencing, cytotoxic chemo-therapy was discontinued and vemurafenib treatment was initiated. One-year post-vemurafenib therapy, ND-LCH manifestations regressed, and the patient experi-enced neurological improvement.
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KEYWORD
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LCH, Langerhans cell histiocytosis, Vemurafenib
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