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Refractory Isolated Thrombocytopenia with Trisomy 8

Abstract

Abdolkarimi Babak, Karimi Mehran, Shahriari Mahdi, Mokhtari Maral and Mardani Samira

Refractory isolated thrombocytopenia (RIT) is an uncommon variant of myelodysplastic syndrome (MDS) that initially presents as chronic pure thrombocytopenia. Because of the lack of distinguishable dysplasia, RIT has often been misdiagnosed as idiopathic thrombocytopenic purpura. We describe a patient with RIT and mosaic trisomy 8 for whom a bone marrow mononuclear cell (BMNC) culture was done for cytogenetic study. This patient exhibited a special pattern of MDS. We suggest that RIT be classified as a subtype of MDS on the basis of its specific molecular property.

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