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

• Published in: Molecular and clinical oncology 2016-09, Vol.5 (3), p.227-230
• Main Authors: Ornellas, Maria Helena, De França Silva, Monique, Solza, Cristiana, De Lucena Gonçalves, Stella Beatriz Sampaio, Silva De Almeida, Liliane, De Paula Ayres-Silva, Jackline, Seixas, Taís Leite, Bastos, Elenice Ferreira, Liehr, Thomas, Alves, Gilda
• Format: Article
• Language: English
• Subjects: aging; Anemia; Biopsy; Bone marrow; Care and treatment; Case reports; Chromosomes; complex karyotype; Cytogenetics; Development and progression; Disease; essential thrombocythemia; Gene expression; Gene mutations; Genetic aspects; Health aspects; Janus kinase 2 gene; Laboratories; Leukemia; Medical prognosis; Morphology; Mutation; myelodysplastic syndrome; Myelodysplastic syndromes; Oncology; Patients; Phosphotransferases; Properties; Thrombosis; Tumors; Ultrasonic imaging
• ISSN: 2049-9450; 2049-9469
• DOI: 10.3892/mco.2016.947

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.