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

共 28 条

[1] Alexandrov LB., 2020, BioRxiv, DOI 10.1101/322859
[2] Signatures of mutational processes in human cancer
Alexandrov, Ludmil B.
Nik-Zainal, Serena
Wedge, David C.
Aparicio, Samuel A. J. R.
Behjati, Sam
Biankin, Andrew V.
Bignell, Graham R.
Bolli, Niccolo
Borg, Ake
Borresen-Dale, Anne-Lise
Boyault, Sandrine
Burkhardt, Birgit
Butler, Adam P.
Caldas, Carlos
Davies, Helen R.
Desmedt, Christine
Eils, Roland
Eyfjord, Jorunn Erla
Foekens, John A.
Greaves, Mel
Hosoda, Fumie
Hutter, Barbara
Ilicic, Tomislav
Imbeaud, Sandrine
Imielinsk, Marcin
Jaeger, Natalie
Jones, David T. W.
Jones, David
Knappskog, Stian
Kool, Marcel
Lakhani, Sunil R.
Lopez-Otin, Carlos
Martin, Sancha
Munshi, Nikhil C.
Nakamura, Hiromi
Northcott, Paul A.
Pajic, Marina
Papaemmanuil, Elli
Paradiso, Angelo
Pearson, John V.
Puente, Xose S.
Raine, Keiran
Ramakrishna, Manasa
Richardson, Andrea L.
Richter, Julia
Rosenstiel, Philip
Schlesner, Matthias
Schumacher, Ton N.
Span, Paul N.
Teague, Jon W.
[J]. NATURE, 2013, 500 (7463) : 415 - +
[3] Recurrent BRAF mutations in Langerhans cell histiocytosis
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.
[J]. BLOOD, 2010, 116 (11) : 1919 - 1923
[4] High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung Adenocarcinomas with No Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden
Benayed, Ryma
Offin, Michael
Mullaney, Kerry
Sukhadia, Purvil
Rios, Kelly
Desmeules, Patrice
Ptashkin, Ryan
Won, Helen
Chang, Jason
Halpenny, Darragh
Schram, Alison M.
Rudin, Charles M.
Hyman, David M.
Arcila, Maria E.
Berger, Michael F.
Zehir, Ahmet
Kris, Mark G.
Drilon, Alexander
Ladanyi, Marc
[J]. CLINICAL CANCER RESEARCH, 2019, 25 (15) : 4712 - 4722
[5] Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies
Cambiaghi, S
Restano, L
Caputo, R
[J]. PEDIATRIC DERMATOLOGY, 2004, 21 (02) : 97 - 101
[6] Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate
Cammenga, J
Horn, S
Bergholz, U
Sommer, G
Besmer, P
Fiedler, W
Stocking, C
[J]. BLOOD, 2005, 106 (12) : 3958 - 3961
[7] Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis
Chakraborty, Rikhia
Hampton, Oliver A.
Shen, Xiaoyun
Simko, Stephen J.
Shih, Albert
Abhyankar, Harshal
Lim, Karen Phaik Har
Covington, Kyle R.
Trevino, Lisa
Dewal, Ninad
Muzny, Donna M.
Doddapaneni, Harshavardhan
Hu, Jianhong
Wang, Linghua
Lupo, Philip J.
Hicks, M. John
Bonilla, Diana L.
Dwyer, Karen C.
Berres, Marie-Luise
Poulikakos, Poulikos I.
Merad, Miriam
McClain, Kenneth L.
Wheeler, David A.
Allen, Carl E.
Parsons, D. Williams
[J]. BLOOD, 2014, 124 (19) : 3007 - 3015
[8] Severe congenital systemic juvenile xanthogranuloma in monozygotic twins
Chantorn, Rattanavalai
Wisuthsarewong, Wanee
Aanpreung, Prapun
Sanpakit, Kleebsabai
Manonukul, Jane
[J]. PEDIATRIC DERMATOLOGY, 2008, 25 (04) : 470 - 473
[9] Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology
Cheng, Donavan T.
Mitchell, Talia N.
Zehir, Ahmet
Shah, Ronak H.
Benayed, Ryma
Syed, Aijazuddin
Chandramohan, Raghu
Liu, Zhen Yu
Won, Helen H.
Scott, Sasinya N.
Brannon, A. Rose
O'Reilly, Catherine
Sadowska, Justyna
Casanova, Jacklyn
Yannes, Angela
Hechtman, Jaclyn F.
Yao, Jinjuan
Song, Wei
Ross, Dara S.
Oultache, Alifya
Dogan, Snjezana
Borsu, Laetitia
Hameed, Meera
Nafa, Khedoudja
Arcila, Maria E.
Ladanyi, Marc
Berger, Michael F.
[J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (03) : 251 - 264
[10] A molecular portrait of microsatellite instability across multiple cancers
Cortes-Ciriano, Isidro
Lee, Sejoon
Park, Woong-Yang
Kim, Tae-Min
Park, Peter J.
[J]. NATURE COMMUNICATIONS, 2017, 8

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