Acute Megakaryoblastic Leukemia with Myelodysplasia-related Changes Associated with ATM Gene Deletion

Intern Med. 2016;55(12):1625-9. doi: 10.2169/internalmedicine.55.5890. Epub 2016 Jun 15.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Ataxia Telangiectasia Mutated Proteins / drug effects*
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Azacitidine / therapeutic use*
  • Female
  • Gene Deletion*
  • Humans
  • Japan
  • Leukemia, Megakaryoblastic, Acute / diagnosis
  • Leukemia, Megakaryoblastic, Acute / drug therapy*
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Myelodysplastic Syndromes / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • Ataxia Telangiectasia Mutated Proteins
  • Azacitidine