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

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).

DOI: 10.3324/haematol.13012

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@article{Mallo2008FluorescenceIS, title={Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.}, author={Mar Mallo and Leonor Arenillas and Blanca Espinet and Marta Salido and Jes{\'u}s M. Hern{\'a}ndez and Eva M Lumbreras and M{\'o}nica del Rey and Eva Arranz and Soraya Ramiro and Patricia Font and Olga D Gonzalez and M{\'o}nica Renedo and Jose V Cervera and Esperanza Such and Guillermo F. Sanz and Elisa Lu{\~n}o and Carmen Sanzo and M{\'i}riam Gonz{\'a}lez and Mar{\'i}a Jos{\'e} Calasanz and Jos{\'e} Ram{\'o}n Mayans and Carlos Garc{\'i}a-Ballesteros and Victoria Amig{\'o} and Rosa Collado and Isabel Oliver and F{\'e}lix Carbonell and Encarna Bureo and Andr{\'e}s Insunza and Lucrecia Y{\'a}{\~n}ez and Mar{\'i}a Jos{\'e} Muruzabal and Elena G{\'o}mez-Beltr{\'a}n and Rafael Andreu and Pilar Vanessa Hidalgo Le{\'o}n and Valle G{\'o}mez and Angeles Sanz and Natalia Casasola and Esperanza Moreno and Adr{\'i}an Alegre and Mar{\'i}a Luisa Mart{\'i}n and Carmen Pedro and Sergi Serrano and Lourdes Florensa and Francesc Sol{\'e}}, journal={Haematologica}, year={2008}, volume={93 7}, pages={1001-8} }