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BIOMARKER:

PML-RARA fusion

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Other names: PML, Promyelocytic Leukemia, Tripartite Motif-Containing Protein 19, Promyelocytic Leukemia Protein, RING Finger Protein 71, Protein PML, PP8675, TRIM19, RNF71, MYL, Promyelocytic Leukemia, Inducer Of, Probable Transcription Factor PML, Tripartite Motif Protein TRIM19, PML/RARA Fusion, RARA, Retinoic Acid Receptor Alpha, Nuclear Receptor Subfamily 1 Group B Member 1, RAR-Alpha, NR1B1, Nucleophosmin-Retinoic Acid Receptor Alpha Fusion Protein NPM-RAR Long Form, Retinoic Acid Nuclear Receptor Alph
Entrez ID:
Related biomarkers:
1m
Disease-specific epigenetic deregulation of enhancers, transposons, and polycomb targets in acute promyelocytic leukemia. (PubMed, Genome Med)
These findings suggest a unique enhancer and heterochromatin profile in APL, with implications for transcription regulation and treatment response. These findings offer novel insights into the pathogenesis of APL.
Journal
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PML (Promyelocytic Leukemia)
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PML-RARA fusion
3ms
A case report of TBL1XR1-RARB positive pediatric acute promyelocytic leukemia and literature review. (PubMed, Front Oncol)
This study underscores the molecular heterogeneity and distinct clinical course of TBL1XR1-RARB-positive vAPL. It highlights significant therapeutic challenges, including a high rate of primary resistance and relapse, and provides critical guidance for the management of this rare but clinically significant disease.
Journal
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KRAS (KRAS proto-oncogene GTPase) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PML (Promyelocytic Leukemia) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • TBL1XR1 (TBL1X Receptor 1)
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KRAS mutation • KRAS G12D • KRAS G12 • PML-RARA fusion
3ms
Assessing the Impact of All-Trans Retinoic Acid (ATRA)- and Arsenic Trioxide (ATO)-Based Therapy in Pediatric Acute Promyelocytic Leukemia: A Single-Center Study. (PubMed, Cureus)
This study reinforces the effectiveness of ATRA-ATO-based regimens in managing paediatric APL. However, induction-related complications such as febrile neutropenia, transaminitis, and QTc prolongation highlight the need for vigilant monitoring and robust supportive care. Timely diagnosis and early initiation of therapy remain key to improving outcomes.
Journal
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PML (Promyelocytic Leukemia)
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PML-RARA fusion • Chr t(15;17)
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arsenic trioxide
3ms
MALNC: a new mutant NPM1/IDH2R140 and PML-RARA-associated lncRNA with impact on AML cell proliferation, maturation and drug response. (PubMed, Cancer Gene Ther)
Functional studies showed that MALNC knockout impairs AML cell proliferation and colony formation, enhances ATRA-induced differentiation, and sensitizes cells to arsenic trioxide. Transcriptomic analysis revealed that MALNC loss alters the expression of retinoic acid pathway genes, and chromatin binding studies showed that MALNC binds to genes related to the retinoic acid and Rho GTPase pathways. In conclusion, we have identified MALNC as a novel lncRNA that promotes leukemic cell proliferation, counteracts ATRA-induced differentiation, and modulates drug sensitivity in AML.
Journal
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NPM1 (Nucleophosmin 1) • PML (Promyelocytic Leukemia)
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NPM1 mutation • PML-RARA fusion
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arsenic trioxide
4ms
Identification and visualization of fusion gene subtypes in APL using spatial attention mechanisms in vision models. (PubMed, Front Oncol)
The attention maps also enhance the model's interpretability. Such a novel and rapid diagnostic approach for APL subtypes, which achieves high - precision identification and pixel - level visualization, holds significant clinical value.
Journal
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NPM1 (Nucleophosmin 1) • RARA (Retinoic Acid Receptor Alpha) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • PML (Promyelocytic Leukemia) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • RARG (Retinoic Acid Receptor Gamma)
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PML-RARA fusion
4ms
Detection of cytogenetically cryptic PML-RARA fusion in acute promyelocytic leukemia by rapid next generation sequencing. (PubMed, NPJ Precis Oncol)
Moreover, next generation sequencing (NGS) has not been incorporated in the routine diagnosis of leukemia-associated fusions. Hereby, we present a clinical APL case, reported negative by FISH, where PML-RARA fusion was detected by next generation sequencing (NGS) within 48 h, indicating the benefit of incorporating rapid NGS into the routine diagnostic management of acute leukemia patients.
Journal • Next-generation sequencing
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PML (Promyelocytic Leukemia)
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PML-RARA fusion
4ms
Isolated Central Nervous System Relapse in a Patient with FLT3-ITD Positive Acute Promyelocytic Leukemia. (PubMed, Clin Lab)
CNS relapse in APL, though rare, requires high clinical suspicion, particularly in patients with FLT3-ITD mutations. Early diagnosis using imaging and CSF analysis, followed by prompt intrathecal therapy, is crucial for effective management. This case highlights the need for vigilance in monitoring high-risk APL patients for CNS complications and emphasizes the importance of early intervention to improve outcomes.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • PML (Promyelocytic Leukemia)
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FLT3-ITD mutation • PML-RARA fusion
4ms
Application and characterisation of four genetically engineered animal models (mouse/zebrafish/rhesus monkey/Drosophila) in acute myeloid leukemia. (PubMed, Gene)
Nevertheless, issues such as insufficient complexity of the hematopoietic system and the absence of key genes still require careful consideration. This article describes the characteristics and application scenarios of these four model types, aiming to provide references for researchers to optimize model selection strategies and develop novel tools.
Preclinical • Review • Journal
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RUNX1 (RUNX Family Transcription Factor 1) • CD33 (CD33 Molecule) • PML (Promyelocytic Leukemia)
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PML-RARA fusion
5ms
Genetic Abnormalities in the Diagnosis and Treatment of Childhood Acute Myeloid Leukemia: A Prospective Study at Hue Central Hospital, Vietnam. (PubMed, Cureus)
Genetic abnormalities have a role in the classification, prognosis, and treatment of AML patients. However, treatment outcomes in AML are influenced by multiple factors beyond genetics, including infection-related complications, nutritional status, socioeconomic conditions, supportive care infrastructure, and access to intensive chemotherapy and transplant services. Supportive care plays an important role in the treatment outcome of childhood AML.
Journal
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ABL1 (ABL proto-oncogene 1) • KMT2A (Lysine Methyltransferase 2A) • PML (Promyelocytic Leukemia) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
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BCR-ABL1 fusion • PML-RARA fusion
6ms
Advances of RARα fusion genes in acute promyelocytic leukemia. (PubMed, Exp Hematol)
The introduction of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) has significantly improved the complete remission rate in APL, making it a highly treatable disease...This review provides an overview of the physiological role of retinoid nuclear receptor signaling in hematopoiesis, the pathological mechanisms of PML-RARα in APL, the pharmacological effects of ATRA/ATO, and the variant translocations identified in APL. We aim to provide innovative research perspectives and insights that may be applicable to other hematopoietic malignancies.
Review • Journal
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RARA (Retinoic Acid Receptor Alpha) • PML (Promyelocytic Leukemia)
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PML-RARA fusion
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arsenic trioxide
9ms
TUD-APOLLO-064: Study for Patients With Newly Diagnosed, High-risk Acute Promyelocytic Leukemia (clinicaltrials.gov)
P3, N=135, Completed, Technische Universität Dresden | Active, not recruiting --> Completed | N=280 --> 135
Trial completion • Enrollment change
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PML (Promyelocytic Leukemia)
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PML-RARA fusion • Chr t(15;17)
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cytarabine • idarubicin hydrochloride • mitoxantrone • arsenic trioxide • mercaptopurine
1year
RAPID-CRISPR: Highly Sensitive Diagnostic Assay for Detection of PML-RARA Isoforms in Acute Promyelocytic Leukemia. (PubMed, Blood Adv)
This simple, cost-effective tool, with its easy-to-read format, is particularly valuable in under-resourced regions. The assay facilitates timely diagnosis and prompt administration of lifesaving therapies such as all-trans retinoic acid and arsenic trioxide in APL.
Journal • Diagnostic assay
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BCR (BCR Activator Of RhoGEF And GTPase) • PML (Promyelocytic Leukemia)
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PML-RARA fusion
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arsenic trioxide