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非双胞胎兄弟姐妹中的朗格汉斯细胞组织细胞增生症。

Langerhans cell histiocytosis in non-twin siblings.

作者信息

Yoon Jong Hyung, Park Hyeon Jin, Park Seog-Yun, Park Byung-Kiu

机构信息

Center for Pediatric Oncology, National Cancer Center, Goyang, South Korea.

出版信息

Pediatr Int. 2013 Jun;55(3):e73-6. doi: 10.1111/ped.12034.

Abstract

Langerhans cell histiocytosis (LCH), which has unknown pathogenesis, can manifest as many kinds of signs and symptoms at any age. Although its genetic background has not been exactly identified, the familial clustering of this disease has been described in some reports. It is very uncommon, however, in siblings who are not monozygotic or dizygotic twins. Reported herein is a case of LCH in non-twin siblings (younger sister and elder brother) who were diagnosed at 3.3 and 14.5 years of age, respectively, and successfully treated with chemotherapy, with BRAF V600E mutation status, and a brief review of the literature.

摘要

朗格汉斯细胞组织细胞增多症(LCH)的发病机制尚不清楚,可在任何年龄表现出多种体征和症状。尽管其遗传背景尚未完全明确,但一些报告中描述了该疾病的家族聚集性。然而,在非单卵或双卵双胞胎的兄弟姐妹中非常罕见。本文报告了一例非双胞胎兄弟姐妹(妹妹和哥哥)患LCH的病例,他们分别在3.3岁和14.5岁时被诊断出,接受化疗成功治疗,并检测了BRAF V600E突变状态,同时对文献进行了简要回顾。

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