Chromosome 5q deletion syndrome

The 5q minus syndrome belongs to the group of myelodysplastic syndromes (MDS). It is cytogenetically characterized by the loss of part of chromosome 5 (long arm of chromosome 5 = 5q) and therefore has received its name.

The clinical symptoms of the 5q minus syndrome essentially correspond to those of the myelodysplastic syndromes. It comes to the development of anemia (anemia ) and leukopenia ( lack of platelets and white blood cells), platelet counts, however, are usually normal or even increased. This results in the clinical symptoms of weakness, fatigue, susceptibility to infections and possibly bleeding. The bone marrow examination typically shows changes in megakaryocytes, which are generally increased, but have unusually small non- lobed nuclei.

Although as with all MDS is a risk of transitioning into acute myeloid leukemia, but the 5q minus syndrome is considered a " low-risk MDS " with relatively favorable prognosis. There are promising results of treatment with the new drug lenalidomide ( Revlimid ), a derivative of thalidomide that give hope for a significant improvement of the forecast. Since 2005 Lenalidomide is approved in combination with dexamethasone by the FDA for the treatment of the 5q minus syndrome in the United States. The application for authorization of the manufacturing company of Lenalidomide Celgene was negatively appraised in June 2008 by the European Medicines Agency and therefore withdrawn from Celgene before the final decision. The reviewers of the EMEA practiced especially critical of the quality of the registration trial and called for the implementation of further studies before a final decision on accreditation. Meanwhile, lenalidomide was also approved in Germany for the treatment of the 5q minus syndrome.