Does the BRAFV600E mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder

被引：4

作者：

Bosco, J. ^{[1
]}

Allende, A. ^{[2
]}

Varikatt, W. ^{[2
]}

Lee, R. ^{[3
]}

Stewart, G. J. ^{[1
,4
]}

机构：

[1] Westmead Hosp, Dept Clin Immunol & Allergy, Sydney, NSW, Australia

[2] Westmead Hosp, Dept Tissue Pathol & Diagnost Oncol, Sydney, NSW, Australia

[3] Westmead Hosp, Dept Radiol, Sydney, NSW, Australia

[4] Univ Sydney, Sydney, NSW 2006, Australia

来源：

INTERNAL MEDICINE JOURNAL | 2015年 / 45卷 / 03期

关键词：

Erdheim-Chester disease; non-Langerhans-cell histiocytosis; retroperitoneal fibrosis; BRAF(V600E); INVOLVEMENT; MELANOMA;

D O I：

10.1111/imj.12685

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Erdheim-Chester disease is a multi-system histiocyte disorder characterised by histological xanthogranulomatous inflammation. We report a 67-year-old man who had fatal multi-systemic Erdheim-Chester disease involvement, including retroperitoneal fibrosis, dilated cardiomyopathy and bone pain that was diagnosed late in its course and was refractory to interferon-alfa. A pathogenic BRAF(V600E) mutation, identified after death in this patient, provides insights into pathogenesis and opens potential lines of treatment.

引用

页码：348 / 351

页数：4

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