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http://dx.doi.org/10.3760/cma.j.121090-20231012-00195DOI Listing

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fusion gene in hematological neoplasms: clinical features, current practices, and prognoses.

Hematology

December 2024

Bone Marrow Transplantation Center of The First Affiliated Hospital & Liangzhu Laboratory, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.

Introduction: -, formerly , is a rarely reported fusion gene in hematological malignancies, especially in Asian people.

Case Presentations: Six patients with fusion gene were identified at the First Affiliated Hospital, Zhejiang University School of Medicine, China between October 2019 and October 2023, with a median age of 25 years. Clinical diagnoses included acute myeloid leukemia (AML) in 2 patients, acute lymphoblastic leukemia (ALL) in 3, and mixed phenotype acute leukemia (MPAL) in 1.

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Clinicopathologic features and outcomes of acute leukemia harboring PICALM::MLLT10 fusion.

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Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address:

The PICALM::MLLT10 fusion is a rare but recurrent cytogenetic abnormality in acute leukemia, with limited clinicopathologic and outcome data available. Herein, we analyzed 156 acute leukemia patients with PICALM::MLLT10 fusion, including 12 patients from our institutions and 144 patients from the literature. The PICALM::MLLT10 fusion preferentially manifested in pediatric and young adult patients, with a median age of 24 years.

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The fusion gene is a rare but recurrent event in acute leukemia (AL) associated with poor prognosis. It is still confused whether can solely correspond to acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL) or acute leukemias of ambiguous lineage (ALAL). Here, we reported a series of positive AL patients with miscellaneous immunophenotype including T-ALL, ALAL, AML, and B-ALL, complex karyotype, half of extramedullary disease (EMD), frequently concomitant PHF6 mutation, and poor initial treatment response to standard chemotherapy aiming to different immunophenotype, but showing sensitivity to combining chemotherapy especially integrated with venetoclax, suggesting this fusion gene may indicate a new subgroup of AL.

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