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

Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement is a rare kind of hematological malignant disease. 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. Karyotyping and fluorescence hybridization (FISH) analysis of either bone marrow or lymph node sample confirmed the presence of the rearrangement. Amplifications of , and genes were identified by next generation sequencing. Furthermore, a frame-shift variant of F330fs >149 in the gene and a missense mutation of R2263Q in were also detected. The rearrangement functions as a trigging oncogenic event. Then other genetic events such as and/or alternations further lead to progression of disease with trilineage blasts assignment.