A case report on MDS – MPD overlap syndrome – a diagnostic dilemma
Journal Title: Pathology Update: Tropical Journal of Pathology and Microbiology - Year 2017, Vol 3, Issue 1
Abstract
Refractory anemia with ring sideroblasts and thrombocytosis (RARS - T) is a rare disease with a controversial status which presents a diagnostic dilemma as it shows overlapping clinical, laboratory and morphological features of two distinct entities-myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPN). In WHO classification RARS–T is included in MDS/MPN–U category. We report a case of 54 years female who presented with weakness, intermittent fever, anemia along with thrombocytosis. Hematological workup revealed hypercellular marrow with abnormal megakaryocytes and presence of ring sideroblasts (46%). Further, presence of JAK2V617F mutation indicated an underlying MPN and presence of ring sideroblasts an element of MDS. RARS-T was first defined in 2001 as an overlap syndrome. Whether RARS-T is a separate clinical entity or a result of additional acquired genetic defect resulting in progression of RARS/ Essential Thrombocytosis (ET) is still a topic for debate. Hence this unusual case emphasizes need for awareness of this entity among clinicians and pathologists to enable its accurate diagnosis and appropriate management.
Authors and Affiliations
Anita Omhare, Sanjeev Kumar Singh, Kanchan Srivastava, Vandana Mishra, Shilpa U. Vahikar
Keywords
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- EP ID EP263168
- DOI 10.17511/jopm.2017.i1.12
- Views 152
- Downloads 0
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