Cancer genetics · 2026
Concurrent BCR::ABL1 and SET::NUP214 fusions in blast-phase chronic myeloid leukemia.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Manoharan Meenakkshy, Alnoor Fnu, Yang Ping, Amador-Ortiz Catalina, Beitinjaneh Amer, Venugopal Sangeetha, Wang Xiaoqiong, Zhou Yi, Ruiz-Cordero Roberto, Chapman Jennifer, Novoa Felipe, Madarang Ellen, Watts Justin, Taylor Justin
Аннотация
INTRODUCTION: Concurrent atypical BCR::ABL1 transcripts and SET::NUP214 fusions are rare in chronic myeloid leukemia (CML) and may complicate disease classification and treatment decisions.
METHODS: Clinical, morphologic, cytogenetic, fluorescence in situ hybridization, and next-generation sequencing findings were reviewed in a patient with de novo myeloid blast-phase CML.
RESULTS: A 68-year-old man presented with hyperleukocytosis and was diagnosed with myeloid blast-phase CML harboring an atypical e13a3 BCR::ABL1 transcript and concurrent SET::NUP214 fusion. Single-agent dasatinib induced rapid remission, clearance of both fusion transcripts, and sustained molecular remission beyond 15 months.
CONCLUSION: Concurrent atypical BCR::ABL1 and SET::NUP214 fusions are rare in myeloid blast-phase CML. Despite this molecular complexity, durable molecular remission was achieved with single-agent dasatinib.
METHODS: Clinical, morphologic, cytogenetic, fluorescence in situ hybridization, and next-generation sequencing findings were reviewed in a patient with de novo myeloid blast-phase CML.
RESULTS: A 68-year-old man presented with hyperleukocytosis and was diagnosed with myeloid blast-phase CML harboring an atypical e13a3 BCR::ABL1 transcript and concurrent SET::NUP214 fusion. Single-agent dasatinib induced rapid remission, clearance of both fusion transcripts, and sustained molecular remission beyond 15 months.
CONCLUSION: Concurrent atypical BCR::ABL1 and SET::NUP214 fusions are rare in myeloid blast-phase CML. Despite this molecular complexity, durable molecular remission was achieved with single-agent dasatinib.