小柯机器人

美国纪念斯隆-凯特琳癌症中心Omar Abdel-Wahab、Eli L. Diamond等研究人员合作发现组织细胞肿瘤中CSF1R和其他受体酪氨酸激酶的激活突变。该研究11月25日在线发表于《自然—医学》。

研究人员发现CSF1R的激活突变以及RET和ALK的重排，分别使得组织细胞增生症患者对RET（selpercatinib）和crizotinib选择性抑制的显著反应。

组织细胞增生病是克隆性造血疾病，通常由BRAF、MEK1和MEK2激酶的突变引起。然而，目前尚不清楚患者中组织细胞酶的发育起源，并且BRAF和MEK以外的临床上有意义的治疗靶标尚不确定。

附：英文原文

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

Author: Benjamin H. Durham, Estibaliz Lopez Rodrigo, Jennifer Picarsic, David Abramson, Veronica Rotemberg, Steven De Munck, Erwin Pannecoucke, Sydney X. Lu, Alessandro Pastore, Akihide Yoshimi, Diana Mandelker, Ozge Ceyhan-Birsoy, Gary A. Ulaner, Michael Walsh, Mariko Yabe, Kseniya Petrova-Drus, Maria E. Arcila, Marc Ladanyi, David B. Solit, Michael F. Berger, David M. Hyman, Mario E. Lacouture, Caroline Erickson, Ruth Saganty, Michelle Ki, Ira J. Dunkel, Vicente Santa-Mara Lpez, Jaume Mora, Julien Haroche, Jean-Francois Emile, Olivier Decaux, Frederic Geissmann, Savvas N. Savvides, Alexander Drilon, Eli L. Diamond, Omar Abdel-Wahab

Issue&Volume: 2019-11-25

Abstract: 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.

DOI: 10.1038/s41591-019-0653-6

Source: https://www.nature.com/articles/s41591-019-0653-6

Nature Medicine：《自然—医学》，创刊于1995年。隶属于施普林格·自然出版集团，最新IF：87.241
官方网址：https://www.nature.com/nm/
投稿链接：https://mts-nmed.nature.com/cgi-bin/main.plex