FISH analysis for TET2 deletion in a cohort of 362 Brazilian myeloid malignancies: correlation with karyotype abnormalities

Med Oncol. 2013 Mar;30(1):483. doi: 10.1007/s12032-013-0483-1. Epub 2013 Feb 7.

Abstract

We investigated the prevalence of TET2 deletion by using a new FISH probe in a cohort of 362 Brazilian patients with myeloid neoplasms and their association with cytogenetic information (G-banding analysis). Normal karyotype was observed in 45.8 % of MDS (n = 44), 43.8 % of AML (n = 39) and 46.3 % of MPN (n = 82). Abnormalities of 4q24 (deletions, translocations or inversions) were associated with another chromosomal abnormality in four patients by G-banding analysis (2 MDS, 1 AML and 1 MPN). Interphase FISH analysis revealed deletion of TET2 in 21 patients (6 patients with abnormal karyotype and in 15 patients with normal karyotype). arrayCGH analysis revealed a cryptic deletion of the region 4q24 in all eight patients selected with myeloid malignancies (3 MDS, 1 AML and 4 MPN). Considering the significantly high cost of determining the mutational status of TET2 in patient samples by using conventional sequencing methods and sometimes the lack of regular use of SNP/aCGH array methodologies, FISH for the detection of TET2 abnormalities may become a potentially useful clinical tool. The search for alterations in TET2 gene may be important for the prediction of prognosis in normal/altered AML patients' karyotype or in the disease evolution of patients with MNP and MDS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormal Karyotype
  • Adult
  • Aged
  • Aged, 80 and over
  • Brazil
  • Chromosome Banding
  • Chromosomes, Human, Pair 4
  • Cohort Studies
  • Comparative Genomic Hybridization / methods
  • DNA-Binding Proteins / genetics*
  • Dioxygenases
  • Female
  • Gene Deletion
  • Hematologic Neoplasms / genetics
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Proto-Oncogene Proteins / genetics*

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • Dioxygenases
  • TET2 protein, human