Genetic testing in myelodysplastic syndromes contribution in diagnosis, prognostic and clinical management

• Main Authors: Aurora Arghir, Sorina Mihaela Chirieac, Nicoleta Berbec, Oana Ciocan, Andreea Cristina Tutulan-Cunita, Agripina Lungeanu
• Format: Article
• Language: English
• Published: "Alexandru Ioan Cuza" University of Iași 2010-06-01
• Series: Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
• Online Access: http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/746

Myelodysplastic syndromes (MDS) represent a group of clonal hematological malignancies characterized by ineffective hematopoiesis. Other hematological disorders associating dysplastic features are grouped under the myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) category. The great diversity of the acquired chromosomal abnormalities described in MDS highlights the molecular heterogeneity of these diseases. We report on 12 MDS and 3 MDS/MPN patients investigated by cytogenetic and molecular techniques (FISH). The most frequent chromosomal anomalies were 5q deletion and trisomy 8. Other trisomies, deletions and new translocations were also detected. MDS and MDS/MPN stand as challenging entities in hemato-oncology due to their heterogeneity. Thus, genetic testing provides important means for diagnosis confirmation and offers further insight into the prognosis and management of these patients.