Transient Neonatal Myeloproliferative Disorder Without Down Syndrome and Detection of GATA1 Mutation
| Autor: | Isis Q. Magalhães, Maria S. Pombo-de-Oliveira, Alessandra Splendore, Paula Azevedo Allemand, Mara Santos Córdoba, Mariana Emerenciano, José Carlos Córdoba, Iris Ferrari |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
medicine.medical_specialty
Down syndrome Myeloproliferative Disorders Leukocytes medicine Humans GATA1 Transcription Factor Transversion Base Sequence business.industry Infant Newborn Cytogenetics GATA1 Hematology medicine.disease DNA-Binding Proteins Leukemia Oncology Neoplasm Regression Spontaneous Mutation Pediatrics Perinatology and Child Health Immunology Mutation (genetic algorithm) Erythroid-Specific DNA-Binding Factors Female Down Syndrome business Trisomy Transcription Factors |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 27:50-52 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/01.mph.0000151801.26478.03 |
| Popis: | Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated leukemia and subsequently achieved clinical and molecular remission without chemotherapy. Cytogenetics and molecular analysis have shown trisomy 21 and GATA1 mutation restricted to leukemic cells. G-to-T transversion was detected, which is predicted to result in a premature stop codon (c.119G>T; pGlu67X) in diagnosis samples. These findings emphasize that there must be a powerful interaction between GATA1 and trisomy 21 in leukemogenesis process. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|