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

Author(s)

de Oliveira, Fabio Morato ^{[1, 2]} ; Miguel, Carlos Eduardo ^[3] ; Lucena-Araujo, Antonio Roberto ^{[1, 2]} ; Gouvea de Lima, Ana Silvia ^{[1, 2]} ; Falcao, Roberto Passetto ^{[1, 2]} ; Rego, Eduardo Magalhaes ^{[1, 2]}

Affiliation

^[1] Natl Inst Sci & Technol Stem Cell & Cell Therapy, Ribeirao Preto - Brazil

^[2] Univ Sao Paulo, Dept Internal Med, Div Hematol, Sch Med Ribeirao Preto, BR-14049900 Ribeirao Preto, SP - Brazil

^[3] Hosp Base Sao Jose do Rio Preto, Div Hematol, Sao Paulo - Brazil

• Document type: Journal article
• Source: MEDICAL ONCOLOGY; v. 30, n. 1 MAR 2013.
• Web of Science Citations: 2

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. (AU)

• FAPESP's process: 11/01647-2 - Evaluation of genomic instability by analysis of the nuclear three-dimensional organization of telomeres in myelodysplastic syndrome (MDS)
• Grantee: Fábio Morato de Oliveira
• Support Opportunities: Research Grants - Young Investigators Grants