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

Ornellas,Maria  Helena; de França Silva,Monique; Solza,Cristiana; de Lucena Gonçalves,Stella Beatriz  Sampaio; de Almeida,Liliane  Silva; Ayres‑Silva,Jackline   de Paula; Seixas,Taís  Leite; Bastos,Elenice  Ferreira; Liehr,Thomas; Alves,Gilda

doi:10.3892/mco.2016.947

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

Authors:
- Maria Helena Ornellas
- Monique de França Silva
- Cristiana Solza
- Stella Beatriz Sampaio de Lucena Gonçalves
- Liliane Silva de Almeida
- Jackline de Paula Ayres‑Silva
- Taís Leite Seixas
- Elenice Ferreira Bastos
- Thomas Liehr
- Gilda Alves
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Affiliations: Department of Pathology, Laboratory of Circulating Markers, Faculty of Medical Sciences (FCM), Rio de Janeiro 20550‑170, Brazil, Department of Haematology, Pedro Ernesto University Hospital (HUPE), Rio de Janeiro State University (UERJ), Rio de Janeiro 20551‑120, Brazil, Laboratory of Pathology, Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro 21040‑360, Brazil, Cytogenetics Laboratory, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Rio de Janeiro 20551‑120, Brazil, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07743 Jena, Germany
Published online on: July 1, 2016 https://doi.org/10.3892/mco.2016.947
Pages: 227-230

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Abstract

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.

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