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Acute myeloid leukemia (AML) with fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with resemble those of AML with , including expression of CD19, cooperative gene alterations in signaling pathway (), epigenetic/chromatin and cell cycle regulation (, , and ), and additional chromosomal abnormalities (trisomies 8 and 15).
View Article and Find Full Text PDFThe transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.
Nat Commun
July 2024
Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, 2031, Australia.
Article Synopsis
- MYCN oncogene amplification is linked to aggressive childhood neuroblastoma, but a study found a germline mutation in Runx1t1 that can prevent tumor development associated with MYCN.
- This mutation affects a conserved zinc finger domain and reduces the risk of neuroblastoma by inhibiting cell growth and reversing hyperplasia, which is a precursor to tumor formation.
- RUNX1T1 is part of a transcriptional repression complex that impacts chromatin accessibility without directly regulating MYCN, and its silencing affects other cancers, indicating its broader significance in tumor biology.
Functional characterization of cooperating MGA mutations in RUNX1::RUNX1T1 acute myeloid leukemia.
Leukemia
May 2024
Department of Pathology, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 342, Memphis, TN, 38105, USA.
MGA (Max-gene associated) is a dual-specificity transcription factor that negatively regulates MYC-target genes to inhibit proliferation and promote differentiation. Loss-of-function mutations in MGA have been commonly identified in several hematological neoplasms, including acute myeloid leukemia (AML) with RUNX1::RUNX1T1, however, very little is known about the impact of these MGA alterations on normal hematopoiesis or disease progression. We show that representative MGA mutations identified in patient samples abolish protein-protein interactions and transcriptional activity.
View Article and Find Full Text PDFCombination of eriocalyxin B and homoharringtonine exerts synergistic anti-tumor effects against t(8;21) AML.
Acta Pharmacol Sin
March 2024
Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Understanding the molecular pathogenesis of acute myeloid leukemia (AML) with well-defined genomic abnormalities has facilitated the development of targeted therapeutics. Patients with t(8;21) AML frequently harbor a fusion gene RUNX1-RUNX1T1 and KIT mutations as "secondary hit", making the disease one of the ideal models for exploring targeted treatment options in AML. In this study we investigated the combination therapy of agents targeting RUNX1-RUNX1T1 and KIT in the treatment of t(8;21) AML with KIT mutations.
View Article and Find Full Text PDFMGA (Max-gene associated) is a dual-specificity transcription factor that negatively regulates MYC-target genes to inhibit proliferation and promote differentiation. Loss-of-function mutations in have been commonly identified in several hematological neoplasms, including acute myeloid leukemia (AML) with however, very little is known about the impact of these alterations on normal hematopoiesis or disease progression. We show that representative mutations identified in patient samples abolish protein-protein interactions and transcriptional activity.
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