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

ABSTRACT: 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 mi

SUBMITTER: Wang X 

PROVIDER: S-EPMC6883488 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature