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1m
BCR::ABL1-Like B-Cell Acute Lymphoblastic Leukemia with BCR::PDGFRA Fusion: A Case Report and Literature Review. (PubMed, Acta Haematol)
It is noteworthy that imatinib was more effective than dasatinib in our case, although the duration of remission was short. Our findings suggest that other therapies like allogeneic hematopoietic stem cell transplantation may need to be combined to improve long-term survival in ALL cases with BCR::PDGFRA.
Review • Journal
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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EZH2 mutation • ABL1 fusion
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dasatinib • imatinib
1m
Prolonged survival in a patient with pbrm1 mutated metastatic cholangiocarcinoma receiving tazemetostat. (PubMed, NPJ Precis Oncol)
Here we report a durable response in a patient with PBRM1 mutated cholangiocarcinoma treated with Tazemetostat. We provide hypothesis-generating mechanistic findings into the relationship between PBRM1 mutations and EZH2 inhibition and the interplay between the SWI/SNF and PRC2 complexes.
Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • PBRM1 (Polybromo 1)
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EZH2 mutation
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Tazverik (tazemetostat)
1m
Enrollment closed
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BRAF V600E • BRAF V600 • BRAF V600K • EZH2 mutation
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Guardant360® CDx
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Mekinist (trametinib) • Tafinlar (dabrafenib) • Tazverik (tazemetostat)
2ms
Malignant Potential of Thyroid Follicular Nodular Disease With Solid/Trabecular Components: A Case Report. (PubMed, Pathol Int)
These findings suggest that the STc of NN may be a precursor to poorly differentiated thyroid carcinoma arising from well-differentiated components through stepwise mutations. This case highlights the malignant potential of certain Noninvasive TFNDs and suggests the need for further analyses to clarify this hypothesis and reconsider their classification and management.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TERT (Telomerase Reverse Transcriptase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit)
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KRAS mutation • EZH2 mutation
2ms
Observation of PICALM::MLLT10-rearrangement and coincidental EZH2 mutations in a patient with acute myeloid leukemia: A case report and review of the literature. (PubMed, BJC Rep)
As a synergistic effect of BMI1 and EZH2 has already been demonstrated in other neoplasms, we hypothesize that acquiring an EZH2 mutation might be a crucial proliferation advantage in PICALM::MLLT10 positive cells. This may explain the high percentage of EZH2 mutated cases in this entity, but also supports the hypothesis of BMI1-mediated leukemogenesis.
Journal
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BMI1 (BMI1 proto-oncogene, polycomb ring finger) • CD7 (CD7 Molecule) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
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EZH2 mutation • MLL rearrangement
2ms
Impact of clinical characteristics and genetic profiles on outcomes of allogeneic stem cell transplantation with sorafenib maintenance in FLT3-ITD acute myeloid leukemia patients: A multi-center, retrospective study. (PubMed, Chin J Cancer Res)
Patients with myelodysplasia-related gene mutations (MRmut) and/or DNMT3A mutations experienced inferior outcomes after transplantation, requiring further exploration. Furthermore, similar prognoses among CR patients highlighted the need for monitoring specific molecular residual lesions.
Retrospective data • Journal
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FLT3 (Fms-related tyrosine kinase 3) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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ASXL1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
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sorafenib
3ms
Unraveling the Epigenetic Landscape of Mature B Cell Neoplasia: Mechanisms, Biomarkers, and Therapeutic Opportunities. (PubMed, Int J Mol Sci)
Targeted therapies such as the EZH2 inhibitor tazemetostat have demonstrated efficacy in EZH2-mutant FL, while HDAC and BET inhibitors show variable responses across B cell malignancies. The limitations of current epigenetic therapies reflect the complexity of targeting epigenetic dysregulation rather than therapeutic futility. These challenges nonetheless highlight the relevance of epigenetic alterations as biomarkers and therapeutic targets, with potential to improve the management of mature B cell neoplasms.
Review • Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • MIR155 (MicroRNA 155) • MIR21 (MicroRNA 21) • SMAD1 (SMAD Family Member 1)
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EZH2 mutation
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Tazverik (tazemetostat)
3ms
Efficacy and safety of tazemetostat, an EZH2 inhibitor, in Chinese patients with relapsed/refractory follicular lymphoma: a multicentre, single-arm, phase 2 study. (PubMed, EClinicalMedicine)
A multicentre, randomised, phase 3 trial of tazemetostat combined with lenalidomide plus rituximab vs. lenalidomide plus rituximab in patients with R/R FL is ongoing (NCT04224493). HUTCHMED.
P2 data • Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit)
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EZH2 mutation
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Rituxan (rituximab) • lenalidomide • Tazverik (tazemetostat)
4ms
Developmental stage and cellular context determine oncogenic and molecular outcomes of Ezh2 Y641F mutation in hematopoiesis. (PubMed, Blood Neoplasia)
We identified a redistribution of histone 3 lysine 27 trimethylation at the GBP locus and showed that GBP2 overexpression impairs multilineage hematopoiesis by promoting apoptosis and skewing differentiation. These findings demonstrate that the oncogenic potential of Ezh2 Y641F is highly dependent on the cellular environment in which it is expressed and that the timing of mutation acquisition critically shapes the impact of EZH2 on hematopoiesis and disease outcome.
Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit)
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EZH2 mutation
4ms
Genetic evolution of myeloproliferative neoplasms from chronic phase to blastic phase: An analysis of 46 paired samples. (PubMed, Cancer)
MPN transformation involves complex clonal evolution, with frequent clonal hematopoiesis-related mutations preceding driver mutations, preserved CALR, acquisition of TP53, RUNX1 and signaling mutations, and JAK2-V617F loss linked to poorer survival during BP transformation, which may influence therapeutic decisions.
Journal
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TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CALR (Calreticulin)
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TP53 mutation • ASXL1 mutation • TET2 mutation • EZH2 mutation • CALR mutation
5ms
Pemigatinib After Chemotherapy for the Treatment of Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
P1, N=32, Recruiting, OHSU Knight Cancer Institute | Trial completion date: Feb 2026 --> Jun 2026 | Trial primary completion date: Aug 2025 --> Dec 2025
Trial completion date • Trial primary completion date
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • DEK (DEK Proto-Oncogene) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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TP53 mutation • FLT3 mutation • RUNX1 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation • Chr del(5q)
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cytarabine • Pemazyre (pemigatinib) • daunorubicin • Starasid (cytarabine ocfosfate)
5ms
Gene Mutation Characteristics, Prognosis and Survival Analysis of Patients with Acute Myeloid Leukemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. KIT and DNMT3A can be used as factors for evaluating the prognosis of AML.
Retrospective data • Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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KRAS mutation • NRAS mutation • KIT mutation • ASXL1 mutation • EZH2 mutation