AUTHOR=Wang Xiaoxue , Huang Xinyue , Pang Hui , Xiao Sheng , Gu Hongcang , Zhang Heyang , Wang Baixun , Zhang Lijun , Yan Xiaojing 

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

JOURNAL=Frontiers in Oncology

VOLUME=9

YEAR=2019

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2019.01304

DOI=10.3389/fonc.2019.01304

ISSN=2234-943X

ABSTRACT=<p><bold>Background:</bold> Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement is a rare kind of hematological malignant disease.</p><p><bold>Case presentation:</bold> 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.</p><p><bold>Result:</bold> Karyotyping and fluorescence <italic>in situ</italic> hybridization (FISH) analysis of either bone marrow or lymph node sample confirmed the presence of the <italic>FGFR1</italic> rearrangement. Amplifications of <italic>RUNX1, ERG</italic>, and <italic>U2AF1</italic> genes were identified by next generation sequencing. Furthermore, a frame-shift variant of F330fs<sup>*</sup>&gt;149 in the <italic>RUNX1</italic> gene and a missense mutation of R2263Q in <italic>NOTCH1</italic> were also detected.</p><p><bold>Conclusion:</bold> The <italic>FGFR1</italic> rearrangement functions as a trigging oncogenic event. Then other genetic events such as <italic>RUNX1</italic> and/or <italic>NOTCH1</italic> alternations further lead to progression of disease with trilineage blasts assignment.</p>