TY - JOUR
T1 - Erdheim-Chester disease
T2 - Consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
AU - Goyal, Gaurav
AU - Heaney, Mark L.
AU - Collin, Matthew
AU - Cohen-Aubart, Fleur
AU - Vaglio, Augusto
AU - Durham, Benjamin H.
AU - Hershkovitz-Rokah, Oshrat
AU - Girschikofsky, Michael
AU - Jacobsen, Eric D.
AU - Toyama, Kazuhiro
AU - Goodman, Aaron M.
AU - Hendrie, Paul
AU - Cao, Xin Xin
AU - Estrada-Veras, Juvianee I.
AU - Shpilberg, Ofer
AU - Abdo, André
AU - Kurokawa, Mineo
AU - Dagna, Lorenzo
AU - McClain, Kenneth L.
AU - Mazor, Roei D.
AU - Picarsic, Jennifer
AU - Janku, Filip
AU - Go, Ronald S.
AU - Haroche, Julien
AU - Diamond, Eli L.
N1 - Funding Information:
Conflict-of-interest disclosure: M.C. has received honoraria from Mal-linckrodt. K.T. received lecture fees from Eisai Co. Ltd., Kyowa Hakko Kirin Co. Ltd., Bristol-Myers Squibb, Celgene K.K., Daiichi Sankyo Co., Nippon Shinyaku Co. Ltd., Chugai Pharmaceutical Company, Ono Pharmaceutical Co. Ltd., Otsuka Pharmaceutical Co. Ltd., and Takeda Pharmaceutical Co. Ltd. F.C.-A. is the PI of a French national academic trial on the efficacy of cobimetinib for wild-type histiocytoses (NCT04007848). A.M.G. receives speaking fees from Seattle Genetics and consulting fees from Jazz Pharmaceuticals, Daiichi Sankyo, Kyowa Kirin, and Navican. M.K. has received consultancy fees from Shionogi & Co. Ltd., Merck Sharp & Dohme K.K. (MSD K.K.), and Chugai Pharmaceutical Co. Ltd.; has received research funding from Pfizer Japan Inc., Otsuka Pharmaceutical Co. Ltd., Chugai Pharmaceutical Co. Ltd., Astellas Pharma Inc., Kyowa Hakko Kirin Co. Ltd., Takeda Pharmaceutical Company Limited, MSD K.K., Teijin Limited, Eisai Co. Ltd., Sumitomo Dainippon Pharma Co. Ltd., Novartis Pharma K.K., Nippon Shinyaku Co. Ltd., Ono Pharmaceutical Co. Ltd., and Bristol-Myers Squibb K.K.; received honoraria directly received from an entity (Shionogi & Co. Ltd.); gave paid expert testimony for Kyowa Hakko Kirin Co. Ltd., Celgene K.K., Bioverativ Japan Ltd., and Daiichi Sankyo Co. Ltd., and held membership on an entity’s board of directors, speaker’s bureau, or advisory committee for MSD K.K., Astellas Pharma Inc., Eisai Co. Ltd., Otsuka Pharmaceutical Co. Ltd., Ono Pharmaceutical Co. Ltd., Yakult Honsha Co. Ltd., Shire Japan K.K., Celgene K.K., Daiichi Sankyo Co. Ltd., Sumitomo Dainippon Pharma Co. Ltd., Takeda Pharmaceutical Co. Ltd., Chugai Pharmaceutical Co. Ltd., Nippon Boehringer Ingelheim Co. Ltd., Bristol-Myers Squibb K.K., Janssen Pharmaceutical K.K., Kyowa Hakko Kirin Co. Ltd., and Nippon Shinyaku Co. Ltd. J.H. is the coprincipal investigator of a French national academic trial on the efficacy of cobi-metnib for wild-type histiocytoses (NCT04007848), and discloses unpaid
Publisher Copyright:
© 2020 by The American Society of Hematology
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/5/28
Y1 - 2020/5/28
N2 - Erdheim-Chester disease (ECD) is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating MAPK (RAS-RAF-MEK-ERK) pathway mutations. Typical findings of ECD include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. The histopathologic diagnosis of ECD is often challenging due to nonspecific inflammatory and fibrotic findings on histopathologic review of tissue specimens. Additionally, the association of ECD with unusual tissue tropism and an insidious onset often results in diagnostic errors and delays. Most patients with ECD require treatment, except for a minority of patients with minimally symptomatic single-organ disease. The first ECD consensus guidelines were published in 2014 on behalf of the physicians and researchers within the Erdheim-Chester Disease Global Alliance. With the recent molecular discoveries and the approval of the first targeted therapy (vemurafenib) for BRAF-V600-mutant ECD, there is a need for updated clinical practice guidelines to optimize the diagnosis and treatment of this disease. This document presents consensus recommendations that resulted from the International Medical Symposia on ECD in 2017 and 2019. Herein, we include the guidelines for the clinical, laboratory, histologic, and radiographic evaluation of ECD patients along with treatment recommendations based on our clinical experience and review of literature in the molecular era. (Blood. 2020;135(22):1929-1945).
AB - Erdheim-Chester disease (ECD) is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating MAPK (RAS-RAF-MEK-ERK) pathway mutations. Typical findings of ECD include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. The histopathologic diagnosis of ECD is often challenging due to nonspecific inflammatory and fibrotic findings on histopathologic review of tissue specimens. Additionally, the association of ECD with unusual tissue tropism and an insidious onset often results in diagnostic errors and delays. Most patients with ECD require treatment, except for a minority of patients with minimally symptomatic single-organ disease. The first ECD consensus guidelines were published in 2014 on behalf of the physicians and researchers within the Erdheim-Chester Disease Global Alliance. With the recent molecular discoveries and the approval of the first targeted therapy (vemurafenib) for BRAF-V600-mutant ECD, there is a need for updated clinical practice guidelines to optimize the diagnosis and treatment of this disease. This document presents consensus recommendations that resulted from the International Medical Symposia on ECD in 2017 and 2019. Herein, we include the guidelines for the clinical, laboratory, histologic, and radiographic evaluation of ECD patients along with treatment recommendations based on our clinical experience and review of literature in the molecular era. (Blood. 2020;135(22):1929-1945).
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UR - http://www.scopus.com/inward/citedby.url?scp=85085630049&partnerID=8YFLogxK
U2 - 10.1182/blood.2019003507
DO - 10.1182/blood.2019003507
M3 - Article
C2 - 32187362
AN - SCOPUS:85085630049
VL - 135
SP - 1929
EP - 1945
JO - Blood
JF - Blood
SN - 0006-4971
IS - 22
ER -