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Updated: Sep 9, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Acute Non-promyelocytic Leukemia with Complex Karyotype and Novel t (15;17) (q21; p11.2)/B2M: RARA Fusion: A Case
Arjun Kachhwaha1, Shalini Singh2, Neha Singh2
1Department of Medical Oncology Hematology, All India Institute of Medical Sciences, Rishikesh, India.
Background:
The t(15;17)(q22;q21) is a well-known cytogenetic abnormality in acute promyelocytic leukemia (APL) and has defined management and better outcomes compared to other acute myeloid leukemia subtypes. Acute myeloid leukemia (AML) with t(15;17)(q21;p11.2) cytogenetic abnormality and associated B2M::RARA molecular abnormality has not been previously reported.
Case Presentation:
The patient reported here was a 48-year-old female who presented with generalized weakness, with no lymphadenopathy or organomegaly. Further evaluation for pancytopenia revealed a diagnosis of AML confirmed by immunophenotyping using flow cytometry. Conventional karyotyping revealed a complex karyotype with the presence of 48, XX, add(1)(q44), +der(1), del(3)(q12q21), del(5)(q31), del(6)(q21), t(15;17)(q21;p11.2), +21[cp20]. Fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) for PML-RARA t(15;17)(q24;q21) were negative, and next-generation sequencing (NGS) revealed TP53 mutation and B2M-RARA fusion. The patient was managed with a hypomethylating agent plus venetoclax (VEN) therapy.
Conclusion:
t(15;17)(q21;p11.2) is a novel cytogenetic abnormality in AML, along with the B2M-RARA fusion, and warrants thorough evaluation to rule out APL.
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