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    GENE:

    EPOR (Erythropoietin Receptor)

    i
    Other names: EPOR, Erythropoietin Receptor, EPO-R, Truncated Erythropoietin Receptor,
    2ms
    Advancing diagnostic targeted RNA sequencing for haematological malignancies within an Australian sample exchange program. (PubMed, Pathology)
    The incorporation of gene expression analysis, with confirmation using orthogonal methods, may help improve diagnostic yield. Developing practice guidelines will help harmonise reporting content and minimise interlaboratory variations.
    Journal
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    ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • EPOR (Erythropoietin Receptor)
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    ABL1 fusion
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    FusionPlex® Dx
    4ms
    JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management. (PubMed, Am J Hematol)
    Advances in molecular hematology are expected to improve the characterization of "idiopathic erythrocytosis". Results from prospective studies are needed to elucidate the underlying pathology and guide management.
    Review • Journal
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    JAK2 (Janus kinase 2) • EPAS1 (Endothelial PAS domain protein 1) • EPOR (Erythropoietin Receptor) • EPO (Erythropoietin)
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    VHL mutation
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    aspirin
    4ms
    A meta-analysis of diagnostic challenges in Ph-like ALL at baseline: early detection strategies for personalized therapeutic interventions. (PubMed, Int J Hematol)
    Undiagnosed Ph-like ALL correlates with worse survival (5-year OS: 35-45% in LMICs vs. 60-65% in HICs) due to chemotherapy overuse instead of TKIs (e.g., dasatinib improves EFS by 30%). A tiered diagnostic approach, initial CRLF2 flow cytometry ($15, 80% sensitivity), confirmatory PHi-RACE PCR ($42, 95.2% sensitivity), and selective NGS referral could bridge 85% of the detection gap at 90% cost reduction. Cost-effective tools, subsidized NGS networks, workforce training, and WHO-endorsed guidelines could prevent 40-50% of relapses in LMICs.
    Retrospective data • Review • Journal
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    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • EPOR (Erythropoietin Receptor)
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    EPOR rearrangement • JAK2 rearrangement
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    dasatinib
    5ms
    HEM-iSMART C: HEM-iSMART-C: Ruxolitinib + Venetoclax + Dexamethasone + Cyclophosphamide and Cytarabine in Pediatric Patients With Relapsed or Refractory Hematological Malignancies (clinicaltrials.gov)
    P1/2, N=26, Recruiting, Princess Maxima Center for Pediatric Oncology | Trial completion date: Oct 2031 --> Feb 2032 | Not yet recruiting --> Recruiting | Trial primary completion date: Oct 2031 --> Feb 2032
    Enrollment open • Trial completion date • Trial primary completion date
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    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • JAK1 (Janus Kinase 1) • IL7R (Interleukin 7 Receptor) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • P2RY8 (P2Y Receptor Family Member 8) • EPOR (Erythropoietin Receptor) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • SH2B3 (SH2B Adaptor Protein 3) • DDX3X (DEAD-Box Helicase 3 X-Linked) • USP9X (Ubiquitin Specific Peptidase 9 X-Linked)
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    Venclexta (venetoclax) • cytarabine • Jakafi (ruxolitinib) • cyclophosphamide
    9ms
    A Phase I/II Trial of Ruxolitinib with Chemotherapy for Patients with Relapsed and/or Refractory Philadelphia-like Acute Lymphoblastic Leukemia. (PubMed, Clin Lymphoma Myeloma Leuk)
    Continued efforts should focus on identifying optimal treatment strategies for this high-risk group of patients.
    P1/2 data • Journal
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    ABL1 (ABL proto-oncogene 1) • JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • NUP214 (Nucleoporin 214) • EPOR (Erythropoietin Receptor) • HMBOX1 (Homeobox Containing 1)
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    dasatinib • Jakafi (ruxolitinib)
    over1year
    HEM-iSMART C: HEM-iSMART-C: Ruxolitinib + Venetoclax + Dexamethasone + Cyclophosphamide and Cytarabine in Pediatric Patients With Relapsed or Refractory Hematological Malignancies (clinicaltrials.gov)
    P1/2, N=26, Not yet recruiting, Princess Maxima Center for Pediatric Oncology | Trial completion date: Oct 2030 --> Oct 2031 | Trial primary completion date: Oct 2030 --> Oct 2031
    Trial completion date • Trial primary completion date
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    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • JAK1 (Janus Kinase 1) • IL7R (Interleukin 7 Receptor) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • P2RY8 (P2Y Receptor Family Member 8) • EPOR (Erythropoietin Receptor) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • SH2B3 (SH2B Adaptor Protein 3) • DDX3X (DEAD-Box Helicase 3 X-Linked) • USP9X (Ubiquitin Specific Peptidase 9 X-Linked)
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    Venclexta (venetoclax) • cytarabine • Jakafi (ruxolitinib) • cyclophosphamide
    almost3years
    Classification and genetics of pediatric B-other Acute Lymphoblastic Leukemia by targeted RNA-sequencing. (PubMed, Blood Adv)
    All novel ALL subgroups, except for iAMP21, hyper- and hypodiploid cases were identified. Curiously, we observed higher frequencies of girls within B-'rest' ALLs and boys in PAX5-driven cases.
    Journal
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    ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • P2RY8 (P2Y Receptor Family Member 8) • PBX1 (PBX Homeobox 1) • EPOR (Erythropoietin Receptor) • GATA3 (GATA binding protein 3) • MEF2D (Myocyte Enhancer Factor 2D) • NUTM1 (NUT Midline Carcinoma Family Member 1) • DUX4 (Double Homeobox 4) • ZNF384 (Zinc Finger Protein 384)
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    MLL rearrangement • IKZF1 deletion • CRLF2 rearrangement • IGH-CRLF2 fusion
    almost3years
    HEM-iSMART C: HEM-iSMART-C: Ruxolitinib + Venetoclax + Dexamethasone + Cyclophosphamide and Cytarabine in Pediatric Patients With Relapsed or Refractory Hematological Malignancies (clinicaltrials.gov)
    P1/2, N=26, Not yet recruiting, Princess Maxima Center for Pediatric Oncology
    New P1/2 trial
    |
    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • JAK1 (Janus Kinase 1) • IL7R (Interleukin 7 Receptor) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • P2RY8 (P2Y Receptor Family Member 8) • EPOR (Erythropoietin Receptor) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • SH2B3 (SH2B Adaptor Protein 3) • DDX3X (DEAD-Box Helicase 3 X-Linked) • USP9X (Ubiquitin Specific Peptidase 9 X-Linked)
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    CRLF2 rearrangement • CRLF2 overexpression • IL7R mutation • IGH-CRLF2 fusion • PTPN2 mutation
    |
    Venclexta (venetoclax) • cytarabine • Jakafi (ruxolitinib) • cyclophosphamide
    3years
    AALL1521: A Phase 2 Study of Ruxolitinib With Chemotherapy in Children With Acute Lymphoblastic Leukemia (clinicaltrials.gov)
    P2, N=171, Active, not recruiting, Incyte Corporation | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • JAK1 (Janus Kinase 1) • IL7R (Interleukin 7 Receptor) • EPOR (Erythropoietin Receptor) • SH2B3 (SH2B Adaptor Protein 3)
    |
    CRLF2 rearrangement • JAK2 mutation • IL7R mutation • JAK2 fusion • SH2B3 deletion
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    cytarabine • doxorubicin hydrochloride • Jakafi (ruxolitinib) • cyclophosphamide • vincristine • prednisone • leucovorin calcium • Oncaspar liquid (pegaspargase) • mercaptopurine • thioguanine • Erwinase (erwinia asparaginase)
    over3years
    Amplified EPOR/JAK2 genes define a unique subtype of acute erythroid leukemia. (PubMed, Blood Cancer Discov)
    These cases were frequently accompanied by gains/amplifications of ERG/ETS2 and associated with a very poor prognosis, even compared with other TP53-mutated AEL. In addition to activation of the STAT5 pathway, a common feature across all AEL cases, these AEL cases exhibited enhanced cell proliferation and heme metabolism and often showed high sensitivity to ruxolitinib in vitro and in xenograft models, highlighting a potential role of JAK2 inhibition in therapeutics of AEL.
    Journal
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    TP53 (Tumor protein P53) • JAK2 (Janus kinase 2) • EPOR (Erythropoietin Receptor)
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    TP53 mutation • JAK2 mutation • JAK2 amplification • EPOR amplification
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    Jakafi (ruxolitinib)
    over3years
    AALL1521: A Phase 2 Study of Ruxolitinib With Chemotherapy in Children With Acute Lymphoblastic Leukemia (clinicaltrials.gov)
    P2, N=170, Recruiting, Incyte Corporation | Trial completion date: Dec 2024 --> Sep 2025 | Trial primary completion date: Dec 2024 --> Sep 2025
    Trial completion date • Trial primary completion date
    |
    JAK2 (Janus kinase 2) • CRLF2 (Cytokine Receptor Like Factor 2) • JAK1 (Janus Kinase 1) • IL7R (Interleukin 7 Receptor) • EPOR (Erythropoietin Receptor) • SH2B3 (SH2B Adaptor Protein 3)
    |
    CRLF2 rearrangement • JAK2 mutation • IL7R mutation • JAK2 fusion • SH2B3 deletion
    |
    cytarabine • doxorubicin hydrochloride • Jakafi (ruxolitinib) • cyclophosphamide • vincristine • prednisone • leucovorin calcium • Oncaspar liquid (pegaspargase) • mercaptopurine • thioguanine • Erwinase (erwinia asparaginase)