| Abstract: |
Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by diverse genetic alterations, each with distinct clinical implications. Chromosome 3 inversion (inv(3)) is a rare genetic anomaly found in approximately 1.4–1.6% of AML cases, which profoundly affects prognosis. This review explores the pathophysiology of inv(3) AML, focusing on fusion genes like GATA2::EVI1 or GATA2::MECOM. These genetic rearrangements disrupt critical cellular processes and lead to leukemia development. Current treatment modalities, including intensive chemotherapy (IC), hypomethylating agents (HMAs) combined with venetoclax, and allogeneic stem cell transplantation are discussed, highlighting outcomes achieved and their limitations. The review also addresses subgroups of inv(3) AML, describing additional mutations and their impact on treatment response. The poor prognosis associated with inv(3) AML underscores the urgent need to develop more potent therapies for this AML subtype. This comprehensive overview aims to contribute to a deeper understanding of inv(3) AML and guide future research and treatment strategies. © 2024 Informa UK Limited, trading as Taylor & Francis Group. |
| Keywords: |
cancer chemotherapy; treatment outcome; treatment response; gene mutation; genetics; mutation; leukemia, myeloid, acute; fludarabine; lestaurtinib; allogeneic stem cell transplantation; review; multimodality cancer therapy; pathophysiology; combined modality therapy; cytarabine; outcome assessment; antineoplastic agent; biology; etoposide; antineoplastic combined chemotherapy protocols; practice guideline; chromosome aberration; diagnosis; mitoxantrone; daunorubicin; gene fusion; oncogene proteins, fusion; leukocyte count; idarubicin; disease management; cancer classification; chromosome 21; retinoic acid; therapy; azacitidine; platelet count; gemtuzumab ozogamicin; leukemia remission; chromosome 3; chromosomes, human, pair 3; filgrastim; clinical outcome; acute myeloid leukemia (aml); acute myeloid leukemia; procedures; antileukemic agent; hematological malignancy; chromosome inversion; gemtuzumab; cancer prognosis; long term survival; transcription factor gata 2; humans; prognosis; human; venetoclax; monocyte count; oncogene fusion protein; chromosome abnormality; high-risk group; gata evi1 gene fusion; gata2 mecom gene fusion
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