Identification of various MLL gene aberrations that lead to MLL gene mutation in patients with acute lymphoblastic leukemia (ALL) and infants with acute leukemia

Leuk Res. 2005 May;29(5):517-26. doi: 10.1016/j.leukres.2004.11.016.

Abstract

Studies were done to investigate MLL gene aberrations using Conventional Cytogenetics, Southern blotting as well as FISH using a panel of probes on 218 cases which included 206 cases of pediatric/young adult ALL and 12 cases of infantile acute leukemias from Tata Memorial Hospital, India. The incidence of MLL gene rearrangements in acute lymphoblastic leukemia (ALL) was 9.4% which included infants as well as pediatric/young adults. In infantile group which included ALL as well as AML cases, MLL gene rearrangement was very common (75% frequency). Application of metaphase-FISH helped unravel MLL rearrangements not only as a result of translocations but also inversions, insertions, partial deletion, duplications, partial duplication-->self-fusion. Besides age, MLL gene rearrangements showed significant association with hyperleukocytosis, peripheral blood blast percentage and early Pre-B phenotype. Clinical outcome of patients with MLL gene rearrangements revealed unfavorable prognosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Rearrangement*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • India
  • Infant
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Mutation
  • Myeloid-Lymphoid Leukemia Protein
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Prognosis
  • Proto-Oncogenes / genetics*
  • Transcription Factors / genetics*

Substances

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