Article
Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report
Registro en:
ORNELLAS, 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
2049-9450
10.3892/mco.2016.947
2049-9469
Autor
Ornellas, Maria Helena
Silva, Monique de França
Solza, Cristiana
Gonçalves, Stella Beatriz Sampaio de Lucena
Almeida, Liliane Silva de
Silva, Jackline de Paula Ayres
Seixas, Taís Leite
Bastos, Elenice Ferreira
Liehr, Thomas
Alves, Gilda
Resumen
Myelodysplastic 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. 2030-01-01