Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia

Leuk Res. 2010 Oct;34(10):1398-401. doi: 10.1016/j.leukres.2010.05.001.

Abstract

Most chromosomal rearrangements including the mixed lineage leukemia (MLL) gene are manifested as leukemia and predict a poor prognosis. Although more than 50 MLL-rearrangement partners are characterized, MLL-related leukemogenesis remains to be understood. Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia. Bone marrow cells harboring the MLL-SACM1L rearrangement appeared during chemotherapy for acute lymphoblastic leukemia with hyperdiploidy and were continuously detected over 7 years without clonal expansion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 3
  • Gene Rearrangement*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Translocation, Genetic

Substances

  • KMT2A protein, human
  • Membrane Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • SACM1L protein, human