An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
| Autor: | Dhivya Sugumar, Sandeep Sen, Lin Hao |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Cancer Research
medicine.medical_specialty Refractory anemia with ringed sideroblasts Gastroenterology Asymptomatic hemic and lymphatic diseases Internal medicine medicine myelodysplatic/myeloproliferative neoplasm Thrombocytosis business.industry Cancer Articles medicine.disease Molecular medicine Clinical trial Oncology refractory anemia with ringed sideroblasts associated with marked thrombocytosis Immunology Mutation (genetic algorithm) prognosis MPLW515L mutation medicine.symptom business JAK2 V617F |
| Zdroj: | Oncology Letters |
| ISSN: | 1792-1082 1792-1074 |
| DOI: | 10.3892/ol.2014.2754 |
| Popis: | The current study presents the case of a 63-year-old patient exhibiting refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), who was positive for the MPL W515L mutation, but negative for the JAK2 V617F mutation. Following diagnosis, the patient remained asymptomatic for over three years, however, in August 2012, the patient relapsed and was administered with supportive treatment in the form of subcutaneous darbepoetin α at a dose of 300 μg/week, which resulted in an increased hemoglobin concentration, allowing the patient to remain transfusion-independent. The MPL W515L mutation has been reported in two previous cases of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) with ringed sideroblasts, however, to the best of our knowledge, the current report is the first to present a case of RARS-T with an MPL W515L mutation. A clinical trial designed to evaluate the efficacy of a targeted agent against the JAK2 V617F mutation is currently ongoing, with the aim of providing a novel therapeutic strategy for treating MDS/MPN patients. As MPL is located upstream of the JAK-STAT signaling pathway, it is a possible therapeutic target in MDS/MPN patients positive for an MPL W515L mutation, but negative for a JAK2 V617F mutation. |
| Databáze: | OpenAIRE |
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