One novel ACOT7–NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case report

BACKGROUND: Acute lymphoblastic leukemia (ALL) is a type of heterogeneous hematopoietic malignancy that accounts for approximately 20% of adult ALL. Although ALL complete remission (CR) rate has increased to 85–90% after induction chemotherapy, 40–50% of patients eventually relapsed. Therefore, it is necessary to improve the outcomes of ALL via accurate diagnosis and individualized treatments, which benefits in part from molecular biomarkers. Here, we identified a new fusion gene, Acyl-CoA Thioesterase 7–Nephrocystin 4 (ACOT7–NPHP4), in a 34-year-old patient with ALL. The fusion gene contributed to chemoresistance to doxorubicin and acted as a new molecular marker. CASE PRESENTATION: A 34-year-old male patient was diagnosed with ALL (common B cell) based on clinical manifestations and laboratory results. Although the patient received two cycles of the hyper-CVAD-L regimen as chemotherapy, the induction treatment failed. Because of the refusal of further treatments, the patient died of rapid progression of ALL one month later. Finally, a new fusion transcript, ACOT7–NPHP4, was detected in the patient’s lymphoblastic leukemia cells via RNA sequencing. CONCLUSION: This is the first report of a patient with ALL carrying an ACOT7–NPHP4 fusion gene. These findings may help understand the impact of ACOT7–NPHP4 in clinical molecular monitoring and drug resistance to doxorubicin; furthermore, its leukemogenesis will be essential to explore in future. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01378-7.