Artículo
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
Autor/es | Morales Camacho, Rosario María
Sánchez, Javier Marcos Luque, Irene Bernal, Ricardo Falantes, José F. Pérez Simón, José Antonio |
Departamento | Universidad de Sevilla. Departamento de Medicina |
Fecha de publicación | 2014 |
Fecha de depósito | 2022-02-10 |
Publicado en |
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Resumen | Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome ... Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T. |
Cita | Morales Camacho, R.M., Sánchez, J., Marcos Luque, I., Bernal, R., Falantes, J.F. y Pérez Simón, J.A. (2014). An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis. Case Reports in Genetics, 1-3. |
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