Langerhans cell histiocytosis and Erdheim-Chester disease, a continuity?

被引：4

作者：

Parreau, S. ^{[1
]}

Haroche, J. ^{[2
]}

Pommepuy, I. ^{[3
]}

Emile, J. F. ^{[4
,5
]}

Bourras, J. C. ^{[6
]}

Archambeaud, F. ^{[1
]}

机构：

[1] Hop Cluzeau, Serv Endocrinol, 23 Ave Dominique Larrey, F-87042 Limoges, France

[2] Hop La Pitie Salpetriere, AP HP, Serv Pathol, F-75013 Paris, France

[3] Hop Univ Limoges, Serv Anatomopathol, 2 Ave Matin Luther King, F-87000 Limoges, France

[4] Univ Paris Saclay, Univ Versailles, EA4340, Biomarqueurs Cancerol & Oncohematol 7, F-78035 Versailles, France

[5] Univ Paris 06, UMPC, Grp Hosp Pitie Salpetriere, AP HP,Serv Med Interne 2,Ctr Natl Reference Malad, 47-83 Blvd Hop, F-75651 Paris, France

[6] Clin Francois Chenieux, Serv Radiol, 18 Rue Gen Catroux, F-87039 Limoges, France

来源：

REVUE DE MEDECINE INTERNE | 2017年 / 38卷 / 07期

关键词：

Erdheim-Chester disease; Langerhans cell histiocytosis; BRAF; Vemurafenib; HIGH PREVALENCE; MUTATIONS; MANIFESTATIONS;

D O I：

10.1016/j.revmed.2016.10.389

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Introduction. Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described. Observation. A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation. The patient was treated with vemurafenib with a good clinical course. Conclusion. The literature review finds forty observations linking the two diseases that may suggest a pathophysiological link, especially with the hematopoietic myeloid stem cell CD34(+). The term inflammatory myeloid neoplasm was advanced. (C) 2016 Societe Nationale Frangaise de Medecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

引用

页码：482 / 487

页数：6

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