5q- syndrome: Experience of Farhat Hached hospital of Sousse

Abstract

Myelodysplastic syndromes (MDS) are heterogeneous group of clonal disorders of myeloid pluripotent stem cell combining a rich bone marrow with signs of dysplasia and one or more peripheral cytopenia. Among these SMD, the 5q-syndrome is individualized by its own characteristics. This syndrome predominant in women, is defined by a particular cytological table combining refractory macrocytic anemia, often isolated, hypolobulated megakaryocytes accompanied by a normal or increased rate of platelet and absent or moderate leukopenia, a percentage of marrow blasts strictly less than 5, for which the only cytogenetic abnormality is found deletion of the long arm of chromosome 5. Our practical work covers 12 cases of 5q-syndrome diagnosed and followed at the hematology department of the CHU Farhat Hached Sousse between 1995 and 2011. This allowed the study of this rare syndrome with different epidemiological, clinical, cytological, karyotypic and scalable. In our series, the profile of the 5q-syndrome is different from the literature: leucopenia rare in the 5q syndrome is present in 3 patients. Thrombocytosis (described in 30 to 50% of cases in the literature), is observed in only 2 cases, but thrombocytopenia which is infrequent is found in 5 patients. The multilineage dysplasia is present in 8 patients with three lineage dysplasia in 4 cases. Smaller hypolobated megakaryocytes are observed in all cases.