Langerhans cell histiocytosis: a comprehensive review

被引：47

作者：

El Demellawy, Dina ^{[1
,2
]}

Young, James Lee ^{[1
]}

de Nanassy, Joseph ^{[1
,2
]}

Chernetsova, Elizaveta ^{[3
]}

Nasr, Ahmed ^{[4
,5
]}

机构：

[1] Univ Ottawa, Dept Pediat Pathol, Ottawa, ON K1H 8L1, Canada

[2] Childrens Hosp Eastern Ontario, Dept Pediat Pathol, Ottawa, ON K1H 8L1, Canada

[3] Univ Ottawa, Dept Innovat Med Educ, Ottawa, ON K1H 8L1, Canada

[4] Univ Ottawa, Dept Pediat Surg, Ottawa, ON K1H 8L1, Canada

[5] Childrens Hosp Eastern Ontario, Dept Pediat Surg, Ottawa, ON K1H 8L1, Canada

来源：

PATHOLOGY | 2015年 / 47卷 / 04期

关键词：

BRAF; BRAF-V600E; Erdheim-Chester disease; Langerhans cell histiocytosis; MAPK; pulmonary Langerhans cell histiocytosis; RAF; RAS; ERDHEIM-CHESTER-DISEASE; DENDRITIC CELLS; EOSINOPHILIC GRANULOMA; HIGH PREVALENCE; BRAF; MUTATIONS; PULMONARY; EXPRESSION; ASSOCIATION; CHILDREN;

D O I：

10.1097/PAT.0000000000000256

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Langerhans cell histiocytosis (LCH) is currently regarded as a myeloid neoplasm, with remarkably broad clinical spectrum, ranging from isolated skin or bone lesions to a disseminated disease that can involve nearly any organ. LCH is generally regarded as a sporadic disease that occurs predominantly in the paediatric population. The diagnosis of LCH is confirmed by immunohistochemistry (IHC) by demonstrating the presence of dendritic cell markers such as S100 protein, in addition to CD1a and langerin. Contrary to previous beliefs, recent literature reveals that the pathogenesis of LCH might involve a clonal process implicating BRAF c.1799T>A (p.Val600Glu) and other mutations [(600DLAT) B-RAF and (T599A) B-RAF, somatic MAP2K1 mutations]. Through this review article, we have summarised the latest understanding of the biological and salient histological characteristics of LCH and its potential morphological mimics.

引用

页码：294 / 301

页数：8

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