The histiocytosis Erdheim-Chester disease is an inflammatory myeloid neoplasm

被引：29

作者：

Haroche, Julien ^{[1
,2
,3
]}

Cohen-Aubart, Fleur ^{[1
,2
,3
]}

Charlotte, Frederic ^{[3
,4
]}

Maksud, Philippe ^{[3
,5
]}

Grenier, Philippe A. ^{[3
,6
]}

Cluzel, Philippe ^{[3
,6
]}

Mathian, Alexis ^{[1
,2
,3
]}

Emile, Jean-Francois ^{[7
,8
]}

Amoura, Zahir ^{[1
,2
,3
]}

机构：

[1] Hop La Pitie Salpetriere, AP HP, Dept Internal Med, Paris, France

[2] Hop La Pitie Salpetriere, AP HP, French Reference Ctr Rare Autoimmune & System Dis, Paris, France

[3] Univ Paris 06, Paris, France

[4] Hop La Pitie Salpetriere, AP HP, Dept Anatomopathol, Paris, France

[5] Hop La Pitie Salpetriere, AP HP, Dept Nucl Med, Paris, France

[6] Hop La Pitie Salpetriere, AP HP, Dept Radiol, Paris, France

[7] Univ Versailles, Boulogne, France

[8] Hop Ambroise Pare, AP HP, Boulogne, France

来源：

EXPERT REVIEW OF CLINICAL IMMUNOLOGY | 2015年 / 11卷 / 09期

关键词：

BRAF; Erdheim-Chester disease; histiocytosis; interferon alpha; Langerhans-cell histiocytosis; NRAS; PIK3CA; vemurafenib; LANGERHANS-CELL HISTIOCYTOSIS; IMATINIB MESYLATE; INTERFERON-ALPHA; BRAF MUTATIONS; INVOLVEMENT; MANIFESTATIONS; VEMURAFENIB; DIAGNOSIS; EFFICACY; PATIENT;

D O I：

10.1586/1744666X.2015.1060857

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis, characterized by the infiltration of tissues by foamy CD68(+) CD1a(-) histiocytes. 99 Technetium bone scintigraphy revealing almost constant tracer uptake by the long bones is highly suggestive of ECD, and a 'hairy kidney' appearance on abdominal computed tomography scan is observed in about half of all ECD cases. CNS involvement is a strong prognostic factor and independent predictor of death. IFN-alpha seems to be the best initial treatment for ECD. More than half of all ECD patients carry the BRAF(V600E) mutation. More than 30 patients worldwide harboring this mutation and displaying multisystemic, refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which has proven highly beneficial. Other recurrent mutations of the MAPK and PIK3 pathways (NRAS, PIK3CA) have recently been described. These mutations should lead to a new classification of histiocytic disorders such that Langerhans cell histiocytosis and ECD are classified as inflammatory myeloid neoplasms.

引用

页码：1033 / 1042

页数：10

共 67 条

[1]

Adam Z, 2011, Vnitr Lek, V57, P576

[2]

Alper M G, 1983, Trans Am Ophthalmol Soc, V81, P64

[3] Two enlarged kidneys:: A manifestation of Erdheim-Chester disease [J].

André, M ;

Delèvaux, I ;

de Fraissinette, B ;

Ponsonnaille, J ;

Chalret, NC ;

Wechsler, B ;

Piette, JC ;

Aumaître, O .

AMERICAN JOURNAL OF NEPHROLOGY, 2001, 21 (04) :315-317

[4]

[Anonymous], J CLIN ONCOL

[5] Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease [J].

Aouba, Achille ;

Georgin-Lavialle, Sophie ;

Pagnoux, Christian ;

Silva, Nicolas Martin ;

Renand, Amedee ;

Galateau-Salle, Francoise ;

Le Toquin, Sophie ;

Bensadoun, Henri ;

Larousserie, Frederique ;

Silvera, Stephane ;

Provost, Nicole ;

Candon, Sophie ;

Seror, Raphaele ;

de Menthon, Mathilde ;

Hermine, Olivier ;

Guillevin, Loic ;

Bienvenu, Boris .

BLOOD, 2010, 116 (20) :4070-4076

[6] CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients [J].

Arnaud, Laurent ;

Hervier, Baptiste ;

Neel, Antoine ;

Hamidou, Mohamed A. ;

Kahn, Jean-Emmanuel ;

Wechsler, Bertrand ;

Perez-Pastor, Gemma ;

Blomberg, Bjorn ;

Fuzibet, Jean-Gabriel ;

Dubourguet, Francois ;

Marinho, Antonio ;

Magnette, Catherine ;

Noel, Violaine ;

Pavic, Michel ;

Casper, Jochen ;

Beucher, Anne-Berangere ;

Costedoat-Chalumeau, Nathalie ;

Aaron, Laurent ;

Salvatierra, Juan ;

Graux, Carlos ;

Cacoub, Patrice ;

Delcey, Veronique ;

Dechant, Claudia ;

Bindi, Pascal ;

Herbaut, Christiane ;

Graziani, Giorgio ;

Amoura, Zahir ;

Haroche, Julien .

BLOOD, 2011, 117 (10) :2778-2782

[7] Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients [J].

Arnaud, Laurent ;

Gorochov, Guy ;

Charlotte, Frederic ;

Lvovschi, Virginie ;

Parizot, Christophe ;

Larsen, Martin ;

Ghillani-Dalbin, Pascale ;

Hervier, Baptiste ;

Kahn, Jean-Emmanuel ;

Deback, Claire ;

Musset, Lucile ;

Amoura, Zahir ;

Haroche, Julien .

BLOOD, 2011, 117 (10) :2783-2790

[8] Pulmonary Involvement in Erdheim-Chester Disease A single-center study of thirty-four patients and a review of the literature [J].

Arnaud, Laurent ;

Pierre, Isabelle ;

Beigelman-Aubry, Catherine ;

Capron, Frederique ;

Brun, Anne-Laure ;

Rigolet, Aude ;

Girerd, Xavier ;

Weber, Nina ;

Piette, Jean-Charles ;

Grenier, Philippe A. ;

Amoura, Zahir ;

Haroche, Julien .

ARTHRITIS AND RHEUMATISM, 2010, 62 (11) :3504-3512

[9] 18F-Fluorodeoxyglucose-Positron Emission Tomography Scanning Is More Useful in Followup Than in the Initial Assessment of Patients With Erdheim-Chester Disease [J].

Arnaud, Laurent ;

Malek, Zoulikha ;

Archambaud, Frederique ;

Kas, Aurelie ;

Toledano, Dan ;

Drier, Aurelie ;

Zeitoun, Delphine ;

Cluzel, Philippe ;

Grenier, Philippe A. ;

Chiras, Jacques ;

Piette, Jean-Charles ;

Amoura, Zahir ;

Haroche, Julien .

ARTHRITIS AND RHEUMATISM, 2009, 60 (10) :3128-3138

[10] Recurrent BRAF mutations in Langerhans cell histiocytosis [J].

Badalian-Very, Gayane ;

Vergilio, Jo-Anne ;

Degar, Barbara A. ;

MacConaill, Laura E. ;

Brandner, Barbara ;

Calicchio, Monica L. ;

Kuo, Frank C. ;

Ligon, Azra H. ;

Stevenson, Kristen E. ;

Kehoe, Sarah M. ;

Garraway, Levi A. ;

Hahn, William C. ;

Meyerson, Matthew ;

Fleming, Mark D. ;

Rollins, Barrett J. .

BLOOD, 2010, 116 (11) :1919-1923

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