Case report: germline recql mutation potentially involved in hereditary predisposition to acute leukemia

HIGHLIGHTS

  • who: Wei Yuan and colleagues from the University of Athens, Greece have published the paper: Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia, in the Journal: (JOURNAL)
  • what: The authors report a case of familial acute leukemia with fusion genes and germline RecQ Like Helicase (RECQL) mutation. In this study, a potential HPS-related gene mutation was identified by WES sequencing, which highlights the clinical application of WES, especially in patients with earlyonset leukemia or familial leukemia.
  • future: The significance of RECQL mutation in the treatment of acute . . .

     

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