High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses
High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses
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DOI：
10.1182/blood-2012-05-430140
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发表时间：
2012-09-27
期刊：
影响因子：
20.3
通讯作者：
Emile, Jean-Francois
中科院分区：
文献类型：
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作者：
Haroche, Julien;Charlotte, Frederic;Emile, Jean-Francois
组织细胞病是一种罕见的疾病，病因不明，预后高度异质性。在朗格汉斯细胞组织细胞增生症（LCH）中观察到BRAF突变。我们研究了BRAF突变在几种组织细胞病中的频率。对127例组织细胞病患者的组织学进行了回顾。BRAF（V600）突变的检测通过从石蜡包埋的样品中提取的DNA的焦磷酸测序进行。诊断为Erdheim-Chester病（ECD）、LCH、Rosai-Dorfman病、青少年黄色肉芽肿、组织细胞肉瘤、播散性黄色瘤、指状树突细胞肉瘤和坏死性黄色肉芽肿的患者分别为46、39、23、12、3、2、1和1例。在93例病例中获得了BRAF状态。BRAF（V600 E）突变在24例ECD中的13例（54%）、29例LCH中的11例（38%）中检测到，而其他组织细胞病中未检测到。4例ECD患者死于疾病。BRAF（V600 E）在LCH和ECD中的高频率表明这些疾病的共同起源。应在恶性BRAFV 600 E组织细胞增生症患者中研究维罗非尼治疗。（血。2012; 120（13）：2700-2703）
Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We investigated the frequency of BRAF mutations in several types of histiocytoses. Histology from 127 patients with histiocytoses were reviewed. Detection of BRAF(V600) mutations was performed by pyrosequencing of DNA extracted from paraffin embedded samples. Diagnoses of Erdheim-Chester disease (ECD), LCH, Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma, and necrobiotic xanthogranuloma were performed in 46, 39, 23, 12, 3, 2, 1, and 1 patients, respectively. BRAF status was obtained in 93 cases. BRAF(V600E) mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses. Four patients with ECD died of disease. The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. Treatment with vemurafenib should be investigated in patients with malignant BRAFV600E histiocytosis. (Blood. 2012; 120(13):2700-2703)