Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report

dc.creatorOrnellas, Maria Helena
dc.creatorSilva, Monique de França
dc.creatorSolza, Cristiana
dc.creatorGonçalves, Stella Beatriz Sampaio de Lucena
dc.creatorAlmeida, Liliane Silva de
dc.creatorSilva, Jackline de Paula Ayres
dc.creatorSeixas, Taís Leite
dc.creatorBastos, Elenice Ferreira
dc.creatorLiehr, Thomas
dc.creatorAlves, Gilda
dc.date2017-03-09T15:37:31Z
dc.date2017-03-09T15:37:31Z
dc.date2016
dc.date.accessioned2023-09-26T22:35:05Z
dc.date.available2023-09-26T22:35:05Z
dc.identifierORNELLAS, Maria Helena; et al. Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report. Molecular and Clinical Oncology, v.5, n.3, p.227-230, Sept. 2016
dc.identifier2049-9450
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/17991
dc.identifier10.3892/mco.2016.947
dc.identifier2049-9469
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8880665
dc.descriptionMyelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation-positive and Perls' staining-negative, which was initially classified as essential thrombocythemia (ET). This case highlights that MDS may be misdiagnosed as ET and inappropriate treatment may be initiated. Therefore, it is crucial to carefully combine all available data on morphology and immunophenotyping, and to perform the necessary molecular, cytogenetic and molecular cytogenetic analyses, in order to correctly diagnose this disease.
dc.description2030-01-01
dc.formatapplication/pdf
dc.languageeng
dc.publisherSpandidos Publications
dc.rightsrestricted access
dc.subjectSíndromes Mielodisplásicas
dc.subjectTrombocitemia Essencial
dc.subjectCariótipo
dc.subjectmyelodysplastic syndrome
dc.subjectessential thrombocythemia
dc.subjectcomplex karyotype, aging
dc.titleMyelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report
dc.typeArticle


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