Primary Acute Myeloid Leukemia with Concomitant BCR∷ABL and NPM1 Mutation.

Background: This study aims to gain further insights into the characteristics of the rare subtype of acute myeloid leukemia (AML) with BCR∷ABL by analyzing laboratory detection results of various gene mutations, such as NPM1.

Methods: Laboratory detection results of multiple gene missense mutations, including NPM1, were analyzed in a case of primary AML with BCR∷ABL.

Results: The patient exhibited morphological features of acute leukemia in the bone marrow. Immunophenotyping of bone marrow blast cells revealed the presence of CD33+, CD123+, CD13+, CD38+, CD11b+ (partial cells), CD7+ (partial cells), and CD56+ (partial cells) markers. Chromosomal karyotyping analysis showed the presence of the BCR-ABL fusion gene formed by t(9;22). BCR∷ABL genotyping and quantitative detection indicated a BCR∷ABL-P230/ABL ratio of 9.723%. Gene screening revealed the positivity of NMP1 and missense mutations in NOTCH2, TET1, CDKN2A, KMT2C, and USH2A genes. Combining these results with previous laboratory tests, the diagnosis of AML with BCR∷ABL subtype and concurrent NPM1-positive status was confirmed. The patient underwent treatment with dasatinib, venetoclax, azacitidine chemotherapy, and anti-infection therapy. The patient's vital signs remained stable overall, and the patient was followed up after discharge.

Conclusions: AML with BCR∷ABL cases are relatively rare, and the establishment of standardized diagnostic and treatment strategies is still lacking. Our research findings emphasize the importance of including BCR∷ABL detection in the diagnostic examination of AML to enable the provision of the most appropriate risk classification and treatment options for patients.