MYELODYSPLASTIC SYNDROME WITH T(5-12)(Q31-P12-P13) AND EOSINOPHILIA -A PEDIATRIC CASE WITH REVIEW OF LITERATURE

Purpose: Myelodysplastic syndrome with chromosomal translocation t(5;1 2)(q31-33;p12-13) and eosinophilia is a new entity recently described. Nine cases have been described in adults. We report the first pediatr ic case with a long follow-up (7 years). Patients and Methods: An 8-ye ar-old girl presented with hyperleukocytosis, eosinophilia, and no cli nical symptoms. Bone marrow investigations revealed myeloid hyperplasi a and clonal chromosomal translocation t(5;12)(q31;p12-13). No treatme nt was prescribed, but 4 years later the white blood cell count reache d 144 x 10(9)/L with immature myeloid cells and splenic enlargement. H ydroxyurea chemotherapy led to a hematopoietic remission. The patient is now 16 years old and well, >7 years after the initial diagnosis. Re sults: The association: myelodysplastic syndrome, eosinophilia and tra nslocation t(5;12)(q31-33;p12-13), seems to be a specific hematologic disorder. Study of cases previously reported in the literature shows t he most important characteristics of this disease. However, there are still a number of questions about the disease itself(especially its tr eatment) and the significance of the chromosomal abnormalities. Conclu sion: This case seems to be the first report of the disease in a child and has had the longest follow-up. Other data should be collected to improve our knowledge of this hematopoietic disorder.