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Background:  Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement is a rare kind of hematological malignant disease.   Case presentation:  A 37-year-old male patient experienced three distinct disease stages from myeloproliferative neoplasm (MPN), T-cell lymphoblastic lymphoma (T-LBL) to a much more complexed phage of a mixed phenotype acute leukemia (MPAL). Both genetic and genomic alternations were detected including chromosomal abnormality and genic mutations.   Result:  Karyotyping and fluorescence  in situ  hybridization (FISH) analysis of either bone marrow or lymph node sample confirmed the presence of the  FGFR1  rearrangement. Amplifications of  RUNX1, ERG , and  U2AF1  genes were identified by next generation sequencing. Furthermore, a frame-shift variant of F330fs * >149 in the  RUNX1  gene and a missense mutation of R2263Q in  NOTCH1  were also detected.   Conclusion:  The  FGFR1  rearrangement functions as a trigging oncogenic event. Then other genetic events such as  RUNX1  and/or  NOTCH1  alternations further lead to progression of disease with trilineage blasts assignment.

Myeloid/Lymphoid Neoplasm With FGFR1 Rearrangement Accompanying RUNX1 and NOTCH1 Gene Mutations