Myelodysplastic Syndrome with t(5; 12)(q31;p 12-p 13) and Eosinophilia
| Autor: | P J Le Moine, Isabelle Pellier, Norbert Ifrah, Xavier Rialland, L Larget-Piet, O Blanchet, L Baranger, S François |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty medicine.medical_treatment Chromosomal translocation Disease Translocation Genetic White blood cell Eosinophilia medicine Humans Hydroxyurea Child Chemotherapy Chromosomes Human Pair 12 business.industry Chromosome Mapping Hematology Middle Aged Haematopoiesis medicine.anatomical_structure Oncology El Niño Karyotyping Myelodysplastic Syndromes Pediatrics Perinatology and Child Health Immunology Chromosomes Human Pair 5 Female Bone marrow medicine.symptom business Follow-Up Studies |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 18:285-288 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/00043426-199608000-00010 |
| Popis: | Purpose Myelodysplastic syndrome with chromosomal translocation t(5;12)(q31-33;p12-13) and eosinophilia is a new entity recently described. Nine cases have been described in adults. We report the first pediatric case with a long follow-up (7 years). Patients and methods An 8-year-old girl presented with hyperleukocytosis, eosinophilia, and no clinical symptoms. Bone marrow investigations revealed myeloid hyperplasia and clonal chromosomal translocation t(5;12)(q31;p12-13). No treatment was prescribed, but 4 years later the white blood cell count reached 144 X 10(9)/L with immature myeloid cells and splenic enlargement. Hydroxyurea chemotherapy led to a hematopoietic remission. The patient is now 16 years old and well, >7 years after the initial diagnosis. Results The association: myelodysplastic syndrome, eosinophilia and translocation t(5;12)(q31-33;p12-13), seems to be a specific hematologic disorder. Study of cases previously reported in the literature shows the most important characteristics of this disease. However, there are still a number of questions about the disease itself (especially its treatment) and the significance of the chromosomal abnormalities. Conclusion 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|