Acute Megakaryoblastic Leukemia with Myelodysplasia-related Changes Associated with ATM Gene Deletion.
Ataxia telangiectasia mutated (ATM) is a tumor suppressor gene, and its somatic inactivation plays a role in the pathogenesis of lymphoid malignancies. However, the role of ATM in patients with myeloid malignancies is still unknown. We herein report a case of acute megakaryoblastic leukemia (AMKL) with ATM gene deletion. An 84-year-old Japanese woman presenting with a pale face and pancytopenia was admitted to our institution and diagnosed to have AMKL with ATM gene deletion. She was treated with intravenous azacitidine. The azacitidine treatment was effective for approximately 1 year. Somatic inactivation of the ATM gene may therefore be involved in the pathogenesis of AMKL.
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Hiroshi
H
Ureshino
Momoka
M
Tanabe
Kazuya
K
Kurogi
Masaharu
M
Miyahara
Shinya
S
Kimura
D000369:Aged, 80 and over; D064007:Ataxia Telangiectasia Mutated Proteins / Q000187:drug effects* / Q000235:genetics*; D001374:Azacitidine / Q000627:therapeutic use*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007564:Japan; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D064007:Ataxia Telangiectasia Mutated Proteins; D001374:Azacitidine