Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype

Cancer Genet. 2023 Nov:278-279:50-54. doi: 10.1016/j.cancergen.2023.08.004. Epub 2023 Aug 15.

Abstract

We report a case of a 20-year-old man who presented with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia. A diagnosis of acute myeloid leukemia (AML) with LRRFIP1::FGFR1 rearrangement with complex karyotype was determined. Chromosome analysis showed a male karyotype: 46,XY,i(1)(q10),t(2;8)(q37;p11.2),der(5)t(1;5) (p22;q13)[17]46,XY[3]. Fluorescence in situ hybridization (FISH) analysis using the Cytocell FGFR1 break apart/amplification probe detected FGFR1 rearrangement with t(2:8) in 126/200 cells analyzed. Other FISH probes including 1p36/ 1q25 probes, del(5q) deletion probe, TLX3 break apart probe, and PDGFRB break apart probe were also utilized to confirm the other karyotypic abnormalities. Next-generation sequencing (NGS) SureSelectXT Custom DNA Target Somatic Detection detected RUNX1 gene mutation. NGS Archer FusionPlex (RNA) confirmed the LRRFIP1::FGFR1 rearrangement. This is the second reported case of AML with LRRFIP1::FGFR1 rearrangement and the first with a complex karyotype.

Keywords: Acute myeloid leukemia; Chromosome; Complex karyotype; LRRFIP1::FGFR1; t(2:8).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotype
  • Karyotyping
  • Leukemia, Myeloid, Acute* / genetics
  • Male
  • RNA-Binding Proteins / genetics
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics
  • Translocation, Genetic
  • Young Adult

Substances

  • LRRFIP1 protein, human
  • RNA-Binding Proteins
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1