Candidate tumor-suppressor genes MTS1 (p16INK4A) and MTS2 (p15INK4B) display frequent homozygous deletions in primary cells from T- but not from B-cell lineage acute lymphoblastic leukemias

Blood. 1994 Dec 15;84(12):4038-44.

Abstract

Using a Southern blot approach, deletions of MTS1 (multiple tumor-suppressor gene 1) and MTS2 (multiple tumor-suppressor gene 2) candidate tumor-suppressor genes have been studied in primary neoplastic cells from 55 acute lymphoblastic leukemia (ALL) patients. Homozygous MTS1 deletions were found in 20 of 24 T-ALL cases and in only 2 of 31 B-lineage cases (P < .001). The deletions involved MTS1 and MTS2 in most cases. Homozygous MTS2 deletions were observed in 16 of 24 T-ALL cases and in 1 of 31 B-lineage ALLs (P < .001), all of them displaying homozygous MTS1 deletions. In 5 cases (4 T and 1 B), deletions involved MTS1 but spared the MTS2 gene, showing that one deletion breakpoint was located between the two genes within a 25-kb region. In 1 T-ALL case, an MTS1 gene rearrangement has occurred downstream to exon 2. Possible hemizygous deletions were found in 6 cases, 4 of them of the B-cell lineage. In 7 ALL cases, cells obtained at presentation and at first relapse were studied and identical results were observed in 6 cases. In 1 B-lineage case, a germline pattern was found at presentation and a possible monoallelic MTS1/MTS2 deletion was observed at relapse. The high frequency of MTS1 and MTS2 homozygous deletions in T-ALLs supports the view that inactivation of these genes plays an important role in the pathogenesis of this type of human leukemia.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Blotting, Southern
  • Burkitt Lymphoma / genetics
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 9*
  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA, Neoplasm / genetics*
  • Genes, Tumor Suppressor*
  • Genotype
  • Humans
  • Infant
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Leukocytes, Mononuclear
  • Middle Aged
  • Molecular Sequence Data
  • Neoplastic Stem Cells
  • Sequence Deletion*

Substances

  • Carrier Proteins
  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA, Neoplasm