Clinical, hematological and cytogenetic profile in fibroblast growth factor receptor 1 rearranged hematoloymphoid malignancies

Dhanlaxmi Shetty, Elizabeth Talker, Purvi Mohanty, Hemani Jain, Anil Kumar Yadav, Hasmukh Jain, Lingaraj Nayak, Prashant Tembare, Nikhil Patkar, P. G. Subramanian, Amit Kumar


FGFR1 belongs to a family of four, high-affinity receptor tyrosine kinase and is a legitimate oncogene associated with uterine, cervical, prostate, bladder, colorectal and lung cancers. It is rarely concomitant in myeloid and lymphoid neoplasms but has an aggressive clinical course with a high mortality rate when present. Cytogenetic abnormalities involving the FGFR1 gene is most frequently observed in AML, MPN with eosinophilia, T-ALL and T-LBL with ZMYM2 gene being the most common fusion partner. Methods of this study was to authors report a series of 4 cases with FGFR1 rearrangements. Results is three patients presented as T-cell Lymphoblastic lymphoma (T-LBL) and one as mixed phenotype acute leukemia (MPAL). The T-LBL cases harbored the FGFR1/ ZMYM2 fusion and the MPAL case harbored the CNTRL/FGFR1 fusion as identified by conventional cytogenetics and confirmed by molecular studies. Conclusion is authors herewith describe the clinical, biochemical, molecular and cytogenetic features observed in these cases.   


CNTRL gene codes for the protein centriolin, Fibroblast growth factor receptor 1, Mixed phenotype acute leukemia, T-lymphoblastic lymphoma, Zinc ginger MYM-type protein 2

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