Acute myeloid leukemia derived from lympho-myeloid clonal hematopoiesis

Leukemia. 2017 Jun;31(6):1286-1295. doi: 10.1038/leu.2016.345. Epub 2016 Nov 24.

Abstract

We studied acute myeloid leukemia (AML) patients with lympho-myeloid clonal hematopoiesis (LM-CH), defined by the presence of DNA methyltransferase 3A (DNMT3A) mutations in both the myeloid and lymphoid T-cell compartment. Diagnostic, complete remission (CR) and relapse samples were sequenced for 34 leukemia-related genes in 171 DNMT3A mutated adult AML patients. AML with LM-CH was found in 40 patients (23%) and was associated with clonal hematopoiesis of indeterminate potential years before AML, older age, secondary AML and more frequent MDS-type co-mutations (TET2, RUNX1 and EZH2). In 82% of AML patients with LM-CH, the preleukemic clone was refractory to chemotherapy and was the founding clone for relapse. Both LM-CH and non-LM-CH MRD-positive AML patients who achieved CR had a high risk of relapse after 10 years (75% and 75%, respectively) compared with patients without clonal hematopoiesis in CR with negative MRD (27% relapse rate). Long-term survival of patients with LM-CH was only seen after allogeneic hematopoietic stem cell transplantation (HSCT). We define AML patients with LM-CH as a distinct high-risk group of AML patients that can be identified at diagnosis through mutation analysis in T cells and should be considered for HSCT.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biomarkers, Tumor / genetics
  • Clone Cells*
  • Combined Modality Therapy
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methyltransferase 3A
  • Drug Resistance, Neoplasm
  • Female
  • Follow-Up Studies
  • Hematopoiesis*
  • Hematopoietic Stem Cell Transplantation
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / pathology*
  • Leukemia, Myeloid, Acute / therapy
  • Lymphoid Progenitor Cells / metabolism
  • Lymphoid Progenitor Cells / pathology*
  • Male
  • Middle Aged
  • Mutation
  • Myeloid Progenitor Cells / metabolism
  • Myeloid Progenitor Cells / pathology*
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology*
  • Neoplasm Recurrence, Local / therapy
  • Neoplasm Staging
  • Prognosis
  • Survival Rate
  • Young Adult

Substances

  • Biomarkers, Tumor
  • DNMT3A protein, human
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A