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
ABSTRACT
Chronic Myeloid Leukemia (CML) is associated with translocation between chromosome 9 & chromosome 22, t(9;22)(q34;q11.2) and with the formation of BCR-ABL fusion gene. In few newly diagnosed CML cases, complex cytogenetics variants of the Philadelphia (Ph) chromosome can be observed with the involvement of a third chromosome other than chromosome 9 & chromosome 22. Here in, we describe a 45 yrs old male, diagnosed as CML in Chronic phase with a complex translocation involving chromosomes 7, 9 & 22. Cytogenetics investigations for confirmation of CML revealed 46,XY, t(7;9;22)(q11.2;q34;q11.2) in 100% metaphases counted. Fluorescence in-situ hybridization (FISH) showed BCR-ABL fusion signals pattern in 100% nucleated cells analyzed. A review of the literature revealed that CML patients with this translocation tend to have an aggressive course and poor outcome. Additional 3-way chromosome translocations associated with CML are also reviewed.