First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia

Cancer Genet. 2020 Oct:248-249:31-33. doi: 10.1016/j.cancergen.2020.09.004. Epub 2020 Sep 22.

Abstract

Infant acute lymphoblastic leukemia (ALL) comprises 2.5%-5% of pediatric ALL with inferior survival compared to older children. A majority of infants (80%) with ALL harbor KMT2A gene rearrangement, which portends a poor prognosis. Approximately 94 different partner genes have been identified to date. The common rearrangements include t(4;11)(q21;q23)KMT2A-AFF1,t(11;19) (q23;p13.3)KMT2A-MLLT1 and t(9;11)(p22;q23)KMT2A-MLLT3. We report a novel translocation t(5;11)(q35;q23)KMT2A-MAML1 in newly diagnosed infant precursor B-ALL. Long-term follow-up and a larger number of patients are needed to better understand its prognostic significance.

Keywords: Acute leukemia; Infant leukemia; KMT2A-MAML1, Hematologic malignancies.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • DNA-Binding Proteins / genetics*
  • Histone-Lysine N-Methyltransferase / genetics*
  • Humans
  • Infant
  • Male
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / pathology*
  • Prognosis
  • Transcription Factors / genetics*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • MAML1 protein, human
  • Oncogene Proteins, Fusion
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase