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Next-Generation Sequencing in AML: Case Report Focuses on NUP214-ABL1 Gene Fusion

By: Noelle Cutter, PhD
Posted: Tuesday, September 7, 2021

The tyrosine kinase fusion gene NUP214-ABL1 has been detected in both patients with T-cell acute lymphoblastic leukemia and B-cell acute lymphoblastic leukemia. Recently, Huan-Ping Wang, MD, and colleagues from Zhejiang University, Hangzhou, China, shared the case details of what they believe may be the first patient with acute myeloid leukemia (AML) harboring the NUP214-ABL1 gene fusion, who was treated successfully with conventional chemotherapy. The report was published in Frontiers in Oncology.

“Identifying genetically targetable abnormalities is extremely important due to the proposal of targeted therapy in combination with chemotherapy and improved survival of patients,” noted the authors. “We look forward to more clinical experience to determine the sensitivity of NUP214-ABL1–positive AML to tyrosine kinase inhibitors.”

A 42-year-old male patient presented with immunophenotypic and morphologic results diagnostic of AML. Next-generation sequencing revealed mutations in NRAS and CEBPA as well as NUP214 and ABL1 gene fusions. The results were confirmed by reverse transcription polymerase chain reaction (PCR) and sequencing of the PCR products. Interphase fluorescence in situ hybridization revealed normal signal patterns in the BCR/ABL1 dual fusion probe and the ABL1 break-apart probe. 

The patient received one cycle of idarubicin and cytarabine, which resulted in complete remission (minimal residual disease < 0.01%). Currently, the patient is continuing consolidation therapy with high-dose cytarabine. 

“Identification of molecular abnormalities by next-generation sequencing could provide important prognostic and treatment information for AML patients, which has become a part of the clinical workup,” the authors commented.

Disclosure: The study authors reported no conflicts of interest.



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