Article
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Blood - 2 Feb 2023
Makishima Hideki, Saiki Ryunosuke, Nannya Yasuhito, Korotev Sophia, Gurnari Carmelo, Takeda June, Momozawa Yukihide, Best Steve, Krishnamurthy Pramila, Yoshizato Tetsuichi, Atsuta Yoshiko, Shiozawa Yusuke, Iijima-Yamashita Yuka, Yoshida Kenichi, Shiraishi Yuichi, Nagata Yasunobu, Kakiuchi Nobuyuki, Onizuka Makoto, Chiba Kenichi, Tanaka Hiroko, Kon Ayana, Ochi Yotaro, Nakagawa Masahiro M, Okuda Rurika, Mori Takuto, Yoda Akinori, Itonaga Hidehiro, Miyazaki Yasushi, Sanada Masashi, Ishikawa Takayuki, Chiba Shigeru, Tsurumi Hisashi, Kasahara Senji, Müller-Tidow Carsten, Takaori-Kondo Akifumi, Ohyashiki Kazuma, Kiguchi Toru, Matsuda Fumihiko, Jansen Joop H, Polprasert Chantana, Blombery Piers, Kamatani Yoichiro, Miyano Satoru, Malcovati Luca, Haferlach Torsten, Kubo Michiaki, Cazzola Mario, Kulasekararaj Austin G, Godley Lucy A, Maciejewski Jaroslaw P, Ogawa Seishi
Abstract excerpt
Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs). Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed a comprehensive characterization of DDX41-mutated MNs, enrolling a total of 346 patients with DDX41 pathogenic/likely-pathogenic (P/LP) germ line variants and/or somatic mutations from 9082 MN...
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