Medical Oncology

, 30:483

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

Authors

    • Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão PretoUniversity of São Paulo
    • National Institute of Science and Technology in Stem Cell and Cell Therapy
  • Carlos Eduardo Miguel
    • Hematology DivisionHospital of Base of São José do Rio Preto
  • Antônio Roberto Lucena-Araujo
    • Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão PretoUniversity of São Paulo
    • National Institute of Science and Technology in Stem Cell and Cell Therapy
  • Ana Silvia Gouvêa de Lima
    • Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão PretoUniversity of São Paulo
    • National Institute of Science and Technology in Stem Cell and Cell Therapy
  • Roberto Passetto Falcão
    • Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão PretoUniversity of São Paulo
    • National Institute of Science and Technology in Stem Cell and Cell Therapy
  • Eduardo Magalhães Rego
    • Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão PretoUniversity of São Paulo
    • National Institute of Science and Technology in Stem Cell and Cell Therapy
Original Paper

DOI: 10.1007/s12032-013-0483-1

Cite this article as:
de Oliveira, F.M., Miguel, C.E., Lucena-Araujo, A.R. et al. Med Oncol (2013) 30: 483. doi:10.1007/s12032-013-0483-1

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.

Keywords:

TET2MDSAMLMPNCytogeneticsFISHSKYarrayCGH

Copyright information

© Springer Science+Business Media New York 2013