Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes

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)

Keywords::

• Myelodysplastic syndromes
• cytogenetics
• FISH
• chromosome 17

Acknowledgements

This work was supported in part by a grant from the Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Spain (PI 11/02010 and PI/14/00013); by the Red Temática de Investigación Cooperativaen Cáncer (RTICC, FEDER) (RD12/0036/0044); Sociedad Española Hematología y Hemoterapia; 2014 SGR225 (GRE) Generalitat de Catalunya, by José Carreras Leukämie-Stiftung, Ref. AR 14/34; financial support from Fundació Internacional Josep Carreras and from Celgene Spain. The research leading to this invention has received funding from “la Caixa” Foundation.

Medical writing support was provided by Sandra Lee Lewis of the Investigator-Initiated Research Writing Group (part of the KnowledgePoint360 Group), and was funded by Celgene.

Potential conflict of interest

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Supplementary material available online

Results of CC and FISH analyses in group B with loss of 17p by CC