Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms

被引：150

作者：

Durham, Benjamin H. ^{[1
,2
]}

Rodrigo, Estibaliz Lopez ^{[3
,4
]}

Picarsic, Jennifer ^{[5
,6
]}

Abramson, David ^{[7
]}

Rotemberg, Veronica ^{[8
]}

De Munck, Steven ^{[9
,10
]}

Pannecoucke, Erwin ^{[9
,10
]}

Lu, Sydney X. ^{[1
]}

Pastore, Alessandro ^{[1
]}

Yoshimi, Akihide ^{[1
]}

Mandelker, Diana ^{[2
]}

Ceyhan-Birsoy, Ozge ^{[2
]}

Ulaner, Gary A. ^{[11
]}

Walsh, Michael ^{[3
]}

Yabe, Mariko ^{[2
]}

Petrova-Drus, Kseniya ^{[2
]}

Arcila, Maria E. ^{[2
]}

Ladanyi, Marc ^{[1
,2
]}

Solit, David B. ^{[1
]}

Berger, Michael F. ^{[1
,2
]}

Hyman, David M. ^{[12
]}

Lacouture, Mario E. ^{[8
]}

Erickson, Caroline ^{[1
]}

Saganty, Ruth ^{[1
]}

Ki, Michelle ^{[1
]}

Dunkel, Ira J. ^{[3
]}

Lopez, Vicente Santa-Maria ^{[13
]}

Mora, Jaume ^{[13
]}

Haroche, Julien ^{[14
]}

Emile, Jean-Francois ^{[15
]}

Decaux, Olivier ^{[16
]}

Geissmann, Frederic ^{[4
]}

Savvides, Savvas N. ^{[9
,10
]}

Drilon, Alexander ^{[12
]}

Diamond, Eli L. ^{[17
]}

Abdel-Wahab, Omar ^{[1
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Med, Human Oncol & Pathogenesis Program, 1275 York Ave, New York, NY 10021 USA

[2] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA

[3] Mem Sloan Kettering Canc Ctr, Dept Pediat, 1275 York Ave, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Sloan Kettering Inst, Immunol Program, 1275 York Ave, New York, NY 10021 USA

[5] Univ Pittsburgh, Sch Med, UPMC Dept Pathol, Pittsburgh, PA USA

[6] UPMC Childrens Hosp Pittsburgh, Pittsburgh, PA USA

[7] Mem Sloan Kettering Canc Ctr, Dept Surg, Ophthalm Oncol Serv, 1275 York Ave, New York, NY 10021 USA

[8] Mem Sloan Kettering Canc Ctr, Dept Dermatol, 1275 York Ave, New York, NY 10021 USA

[9] Univ Ghent, Dept Biochem & Microbiol, Ghent, Belgium

[10] VIB UGent Ctr Inflammat Res, Ghent, Belgium

[11] Mem Sloan Kettering Canc Ctr, Dept Radiol, 1275 York Ave, New York, NY 10021 USA

[12] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA

[13] Hosp St Joan de Deu, Div Pediat Oncol, Barcelona, Spain

[14] Univ Hosp La Pitie Salpetriere, AP HP, Ctr Reference Histiocytoses, Dept Internal Med, Paris, France

[15] Univ Hosp Ambroise Pare, AP HP, Dept Pathol, Boulogne, France

[16] Hop Pontchaillou CHU Rennes, Serv Hematol Clin, Rennes, France

[17] Mem Sloan Kettering Canc Ctr, Dept Neurol, 1275 York Ave, New York, NY 10021 USA

来源：

NATURE MEDICINE | 2019年 / 25卷 / 12期

基金：

美国国家卫生研究院;

关键词：

JUVENILE XANTHOGRANULOMA; CELL;

D O I：

10.1038/s41591-019-0653-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Histiocytoses are clonal hematopoietic disorders frequently driven by mutations mapping to the BRAF and MEK1 and MEK2 kinases. Currently, however, the developmental origins of histiocytoses in patients are not well understood, and clinically meaningful therapeutic targets outside of BRAF and MEK are undefined. In this study, we uncovered activating mutations in CSF1R and rearrangements in RET and ALK that conferred dramatic responses to selective inhibition of RET (selpercatinib) and crizotinib, respectively, in patients with histiocytosis.

引用

页码：1839 / 1842

页数：4

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