title: FISH analysis for TET2 deletion in a cohort of 362 Brazilian myeloid malignancies: correlation with karyotype abnormalities.
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.
authors: Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900, 14049-900 Ribeirão Preto, SP, Brazil. morato.oliveira@yahoo.com.br
authors: Fábio Morato
authors: FM
authors: de Oliveira
authors: Carlos Eduardo
authors: CE
authors: Miguel
authors: Antônio Roberto
authors: AR
authors: Lucena-Araujo
authors: Ana Silvia Gouvêa
authors: AS
authors: de Lima
authors: Roberto Passetto
authors: RP
authors: Falcão
authors: Eduardo Magalhães
authors: EM
authors: Rego
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D049308:Dioxygenases; D005260:Female; D017353:Gene Deletion; D019337:Hematologic Neoplasms / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D049308:Dioxygenases; C541081:TET2 protein, human
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