CBFA2T3::GLIS2 유전자재배열을 동반한 소아 급성거핵모구백혈병의 국내 첫 증례 보고

First Korean Case of Pediatric Acute Megakaryoblastic Leukemia with CBFA2T3::GLIS2 Fusion

Acute megakaryoblastic leukemia (AMKL) is a rare type of acute myeloid leukemia that evolved from primitive megakaryoblasts. We report a case of non-Down syndrome AMKL with CBFA2T3::GLIS2 fusion that has not been described before in Korea. A 20-month-old girl presented with a fever and was diagnosed with AMKL after a bone marrow study and flow cytometry analysis. An RNA fusion test observed a fusion transcript between exons 9 and 2 of the CBFA2T3 and GLIS2 genes, respectively. The patient achieved complete morphological remission after induction chemotherapy. However, her prognosis was poor as measurable residual disease remained, detected using reverse transcription PCR. RNA fusion analysis could be a helpful tool to identify clinically actionable genomic markers for patient risk stratification and measurable residual disease monitoring.

Acute megakaryoblastic leukemia (AMKL) is a rare type of acute myeloid leukemia that evolved from primitive megakaryoblasts. We report a case of non-Down syndrome AMKL with CBFA2T3::GLIS2 fusion that has not been described before in Korea. A 20-month-old girl presented with a fever and was diagnosed with AMKL after a bone marrow study and flow cytometry analysis. An RNA fusion test observed a fusion transcript between exons 9 and 2 of the CBFA2T3 and GLIS2 genes, respectively. The patient achieved complete morphological remission after induction chemotherapy. However, her prognosis was poor as measurable residual disease remained, detected using reverse transcription PCR. RNA fusion analysis could be a helpful tool to identify clinically actionable genomic markers for patient risk stratification and measurable residual disease monitoring.