2015•Leukemia & lymphoma/Leukemia and lymphomaOpen access
Fluorescencein situhybridization ofTP53for the detection of chromosome 17 abnormalities in myelodysplastic syndromes
Judit Sánchez-Castro, Víctor Marco-Betés, Xavier Gómez‐Arbonés, Tomás García-Cerecedo, Ricard López Ortega, Elisabeth Talavera, Sara Fernández-Ruiz, Vera Ademà, Isabel Marugán, Elisa Luño, Carmen Sanzo, Teresa Vallespı́, Leonor Arenillas, Josefa Marco Buades, Ana Batlle, Ismael Buño, María Luisa Martín Ramos, Beatriz Blázquez Rios, Rosa Collado, M. T. Vargas, Teresa González Martínez, Guillermo Francisco Sanz, Françesc Solé, for the Spanish Group for Mds Study (GESMD) and the Spanish Group for Clinical Cytogenetics (Gcecgh)
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Abstract
Conventional G-banding cytogenetics (CC) detects chromosome 17 (chr17) abnormalities in 2% of patients with de novo myelodysplastic syndromes (MDS). We used CC and fluorescence in situ hybridization (FISH) (LSI p53/17p13.1) to assess deletion of 17p in 531 patients with de novo MDS from the Spanish Group of Hematological Cytogenetics. FISH detected - 17 or 17p abnormalities in 13 cases (2.6%) in whom no 17p abnormalities were revealed by CC: 0.9% of patients with a normal karyotype, 0% in non-informative cytogenetics, 50% of patients with a chr17 abnormality without loss of 17p and 4.7% of cases with an abnormal karyotype not involving chr17. Our results suggest that applying FISH of 17p13 to identify the number of copies of the TP53 gene could be beneficial in patients with a complex karyotype. We recommend using FISH of 17p13 in young patients with a normal karyotype or non-informative cytogenetics, and always in isolated del(17p).