Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia: A case report and mini review

Yavuz Sahin, Jianming Pei, Don A. Baldwin, Nashwa Mansoor, Lori Koslosky, Peter Abdelmessieh, Y. Lynn Wang, Reza Nejati, Joseph R. Testa

Research output: Contribution to journalArticlepeer-review

Abstract

Acute myeloid leukemia (AML) is a heterogeneous hematological malignancy associated with various combinations of gene mutations, epigenetic abnormalities, and chromosome rearrangement-related gene fusions. Despite the significant degree of heterogeneity in its pathogenesis, many gene fusions and point mutations are recurrent in AML and have been employed in risk stratification over the last several decades. Gene fusions have long been recognized for understanding tumorigenesis and their proven roles in clinical diagnosis and targeted therapies. Advances in DNA sequencing technologies and computational biology have contributed significantly to the detection of known fusion genes as well as for the discovery of novel ones. Several recurring gene fusions in AML have been linked to prognosis, treatment response, and disease progression. In this report, we present a case with a long history of essential thrombocythemia and hallmark CALR mutation transforming to AML characterized by a previously unreported AKAP9::PDGFRA fusion gene. We propose mechanisms by which this fusion may contribute to the pathogenesis of AML and its potential as a molecular target for tyrosine kinase inhibitors.

Original languageEnglish
Article number100465
Pages (from-to)100465
JournalLeukemia Research Reports
Volume21
DOIs
StatePublished - Jan 2024

Keywords

  • AKAP9
  • AKAP9::PDGFRA
  • Acute myeloid leukemia
  • Essential thrombocythemia
  • Novel gene fusion
  • PDGFRA

Fingerprint

Dive into the research topics of 'Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia: A case report and mini review'. Together they form a unique fingerprint.

Cite this