Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Mar Mallo, Leonor Arenillas, Blanca Espinet, Marta Salido, Jesús M. Hernández, Eva Lumbreras, Mónica Del Rey, Eva Arranz, Soraya Ramiro, Patricia Font, Olga González, Mónica Renedo, José Cervera, Esperanza Such, Guillermo F. Sanz, Elisa Luño, Carmen Sanzo, Miriam González, María José Calasanz, José MayansCarlos García-Ballesteros, Victoria Amigo, Rosa Collado, Isabel Oliver, Félix Carbonell, Encarna Bureo, Andrés Insunza, Lucrecia Yañez, María José Muruzabal, Elena Gómez-Beltrán, Rafael Andreu, Pilar León, Valle Gómez, Ángeles Sanz, Natalia Casasola, Esperanza Moreno, Adrián Alegre, María Luisa Martín, Carmen Pedro, Sergi Serrano, Lourdes Florensa, Francesc Solé

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Abstract

Background More than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality. The aim of this study was to apply fluorescence in situ hybridization of 5q31 in patients diagnosed with de novo myelodysplastic syndromes in whom conventional banding cytogenetics study had shown a normal karyotype, absence of metaphases or an abnormal karyotype without evidence of del(5q). Design and Methods We performed fluorescence in situ hybridization of 5q31 in 716 patients, divided into two groups: group A patients (n=637) in whom the 5q deletion had not been detected at diagnosis by conventional banding cytogenetics and group B patients (n=79), in whom cytogenetic analysis had revealed the 5q deletion (positive control group). Results In group A (n=637), the 5q deletion was detected by fluorescence in situ hybridization in 38 cases (5.96%). The majority of positive cases were diagnosed as having the 5q- syndrome. The deletion was mainly observed in cases in which the cytogenetics study had shown no metaphases or an aberrant karyotype with chromosome 5 involved. In group B (n=79), the 5q deletion had been observed by cytogenetics and was confirmed to be present in all cases by fluorescence in situ hybridization of 5q31. Conclusions Fluorescence in situ hybridization of 5q31 detected the 5q deletion in 6% of cases without clear evidence of del(5q) by conventional banding cytogenetics. We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q- syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q- chromosome). © 2008 Ferrata Storti Foundation.
Original languageEnglish
Pages (from-to)1001-1008
JournalHaematologica
Volume93
Issue number7
DOIs
Publication statusPublished - 1 Jul 2008

Keywords

  • Fluorescence in situ hybridization
  • Karyotype
  • Myelodysplastic syndromes

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    Mallo, M., Arenillas, L., Espinet, B., Salido, M., Hernández, J. M., Lumbreras, E., Del Rey, M., Arranz, E., Ramiro, S., Font, P., González, O., Renedo, M., Cervera, J., Such, E., Sanz, G. F., Luño, E., Sanzo, C., González, M., Calasanz, M. J., ... Solé, F. (2008). Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-. Haematologica, 93(7), 1001-1008. https://doi.org/10.3324/haematol.13012