Loss of the TEL/ETV6 gene by a second translocation in ALL patients with t(12;21)

M B Coniat; H Poirel; T Leblanc; O A Bernard; R Berger

doi:10.1016/s0145-2126(99)00105-8

Loss of the TEL/ETV6 gene by a second translocation in ALL patients with t(12;21)

Leuk Res. 1999 Oct;23(10):895-9. doi: 10.1016/s0145-2126(99)00105-8.

Authors

M B Coniat¹, H Poirel, T Leblanc, O A Bernard, R Berger

Affiliation

¹ Unité Inserm U434, CNRS, Institut de Génétique Moléculaire, Paris, France.

PMID: 10573134
DOI: 10.1016/s0145-2126(99)00105-8

Abstract

Inactivation of the non translocated TEL/ETV6 gene is commonly associated with translocation (12;21) of acute lymphoblastic leukemia (ALL). Translocations involving the short arm of chromosome 12 were analysed in two children with t(12;21) ALL. Fluorescence in situ hybridation studies showed that these associated translocations resulted in loss of TEL/ETV6. While hybridization with a YAC probe covering TEL/ETV6 was positive in one patient, analysis with cosmid probes covering the gene demonstrated that the gene was in fact deleted. It is concluded that deletions involving TEL/ETV6 can remain undetected by FISH using only YAC probes.

Publication types

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

MeSH terms

Adolescent
Child, Preschool
Chromosomes, Human, Pair 12*
Chromosomes, Human, Pair 21*
DNA-Binding Proteins / genetics*
ETS Translocation Variant 6 Protein
Female
Humans
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
Precursor Cell Lymphoblastic Leukemia-Lymphoma / physiopathology
Proto-Oncogene Proteins c-ets
Recurrence
Repressor Proteins*
Transcription Factors / genetics*
Translocation, Genetic*

Substances

DNA-Binding Proteins
Proto-Oncogene Proteins c-ets
Repressor Proteins
Transcription Factors