[Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion: a case report and literature review].

Abstract

To enhance understanding of myeloid/lymphoid neoplasms with ETV6:: ABL1 fusion, we retrospectively analyzed the clinical data of a patient with myeloid lymphoid neoplasms with ETV6:: ABL1 fusion. A review of the relevant literature was also conducted. The patient, a 33-year-old male, presented with a "10-month history of fatigue" and was initially diagnosed with "atypical chronic myeloid leukemia" following comprehensive clinical evaluation. Treatment with imatinib (400 mg once daily) was initiated. Based on findings from the literature and in accordance with the "World Health Organization 5th edition classification of hematopoietic and lymphoid tumors" and "the 2022 International Consensus Classification," the diagnosis was revised to "myeloid/lymphoid neoplasm with ETV6:: ABL1 fusion (M/LN-ETV6::ABL1) ." Following treatment, the patient's fatigue significantly improved, and the fusion gene became undetectable. M/LN-ETV6:: ABL1 fusion are extremely rare and often clinically resemble CML, making them susceptible to misdiagnosis and underdiagnosis.