Acute promyelocytic leukemia with a unique genetic signature: a case report and management

Acute Promyelocytic Leukemia (APL) is a specific type of Acute Myeloid Leukemia (AML) characterized by the chromosomal abnormality t(15;17)(q22;q21), leading to the formation of the PML-RARα fusion gene. This fusion gene can be detected using Reverse Transcription Polymerase Chain Reaction (RT-PCR) or Fluorescence In Situ Hybridization (FISH), and these methods are the gold standards for diagnosing APL. This report describes a 59-year-old male patient who presented with tooth pain, gum bleeding, pancytopenia, and abnormal coagulation function. Through clinical manifestations, immunophenotyping, cytogenetics, and bone marrow chromosome karyotype analysis, the patient was found to have a rare variant karyotypeof46,XY,t(15;17;21)(q24;q21;q21)14/46,idem,add(22)(p11.2)3/46,XY3,involving mutations in three types of genes: PML::RARA fusion gene, FLT3-TKD, and DNMT3A, which are closely associated with APL. Following dual-induction chemotherapy with all-trans retinoic acid (ATRA) and compound Huangdai tablets, the patient’s vital signs stabilized, the karyotype normalized, complete remission of the bone marrow was achieved, and the condition was effectively controlled.