High prevalence of myeloid malignancies in progeria with Werner syndrome is associated with p53 insufficiency

Werner syndrome (WS) is a progeroid syndrome caused by mutations in the WRN gene, which encodes the RecQ type DNA helicase for the unwinding of unusual DNA structures and is implicated in DNA replication, DNA repair, and telomere maintenance. WS patients are prone to develop malignant neoplasms, including hematological malignancies. However, the pathogenesis of WS-associated hematological malignancies remains uncharacterized. Here we investigated the somatic gene mutations in WS-associated MDS/AML.

Source: Experimental Hematology - February 28, 2022 Category: Hematology Authors: Hisaya Kato, Yoshiro Maezawa, Dai Nishijima, Eisuke Iwamoto, June Takeda, Takashi Kanamori, Masaya Yamaga, Tatsuzo Mishina, Yusuke Takeda, Shintaro Izumi, Yutaro Hino, Hiroyuki Nishi, Jun Ishiko, Masahiro Takeuchi, Hiyori Kaneko, Masaya Koshizaka, Naoya M Tags: Brief Communications Source Type: research