Eosinophilia with PDGFRB Gene Rearrangement and Isolated Del 5q; an Extremely Rare Presentation of Myeloid Neoplasm

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Acta Medica International,2017,4,1,7-10.
Published:October 2016
Type:Case Report

Eosinophilia with PDGFRB Gene Rearrangement and Isolated Del 5q; an Extremely Rare Presentation of Myeloid Neoplasm

Nida Anwar, Muhammad Nadeem, Saira Shan, Tahir Shamsi

Department of Hematology, Cytogenetics and Molecular Medicine, National Institute of Blood Disease & BMT, Karachi, Pakistan

Abstract:

Introduction: Myeloproliferative neoplasms with PDGFRA, PDGFRB and FGFR1 rearrangements are reported to be very rare entities. Myeloid neoplasms with PDGFRB rearrangement have prominent eosinophilia, neutrophilia or monocytosis and presence of t (5;12)(q31~q33;p12-13) or variant translocation.

Case Report: We report a 55 years old female patient who presented with eosinophilia along with predominant eosinophil precursors on bone marrow and concomitant isolated del (5q) and PDGFRB gene rearrangement which is an infrequent and rare finding.

Conclusion: isolated acquired deletion of the long arm of chromosome 5 (del 5q) also known as 5q- syndrome, is a distinct hematologic disorder reported to be primary myelodys plastic syndrome which is found in females of middle age and usually presents with macrocytic anemia, oval macrocytes, with white blood cell counts normal or reduced, platelet counts normal or elevated and bone marrow exhibitery throid hypoplasia with megakaryocytes showing hypolobated nuclei. 

Bone Marrow Trephine Biopsy