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An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report

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 asymptom...

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Detalles Bibliográficos
Autores principales: HAO, LIN, SEN, SANDEEP, SUGUMAR, DHIVYA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301478/
https://www.ncbi.nlm.nih.gov/pubmed/25621045
http://dx.doi.org/10.3892/ol.2014.2754
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author HAO, LIN
SEN, SANDEEP
SUGUMAR, DHIVYA
author_facet HAO, LIN
SEN, SANDEEP
SUGUMAR, DHIVYA
author_sort HAO, LIN
collection PubMed
description 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.
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spelling pubmed-43014782015-01-23 An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report HAO, LIN SEN, SANDEEP SUGUMAR, DHIVYA Oncol Lett Articles 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. D.A. Spandidos 2015-02 2014-12-02 /pmc/articles/PMC4301478/ /pubmed/25621045 http://dx.doi.org/10.3892/ol.2014.2754 Text en Copyright © 2015, Spandidos Publications http://creativecommons.org/licenses/by/3.0 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
spellingShingle Articles
HAO, LIN
SEN, SANDEEP
SUGUMAR, DHIVYA
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title_full An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title_fullStr An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title_full_unstemmed An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title_short An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report
title_sort mpl w515l mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301478/
https://www.ncbi.nlm.nih.gov/pubmed/25621045
http://dx.doi.org/10.3892/ol.2014.2754
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