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11ms
Impact of myelodysplasia-related and additional gene mutations in intensively treated patients with NPM1-mutated AML. (PubMed, Hemasphere)
When focusing on the 470 patients with 2022 ELN favorable-risk NPM1 mut AML, multivariable analysis for event-free survival (EFS) identified age (p < 0.001), DNMT3A R882 (p < 0.001), IDH1 (p = 0.007), and MRG mutations (p = 0.03) as unfavorable factors, cohesin gene co-mutations (p = 0.001) and treatment with gemtuzumab ozogamicin (p = 0.007) as favorable factors...For OS, age (p < 0.001), DNMT3A R882 (p = 0.042), IDH1 (p = 0.045), and KRAS (0.003) mutations were unfavorable factors, sole favorable factor was IDH2 co-mutation (p = 0.037). In 2022 ELN favorable-risk NPM1 mut AML, MRG mutations are associated with inferior EFS; however, this effect is no longer present when considering NPM1 mut MRD status post cycle 2; DNMT3A R882 and MYC mutations remained adverse, and cohesin gene mutations favorable prognostic factors independent of the NPM1 mut MRD status.
Journal
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KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
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KRAS mutation • FLT3-ITD mutation • IDH2 mutation • NPM1 mutation • MYC mutation • DNMT3A R882
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Mylotarg (gemtuzumab ozogamicin)
12ms
BET inhibition revealed varying MYC dependency mechanisms independent of gene alterations in aggressive B-cell lymphomas. (PubMed, Clin Epigenetics)
This work brings new insights into the complexity of MYC-dependencies and unravels a novel targetable oncogenic pathway in aggressive B-cell lymphomas.
Journal
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MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BRD4 (Bromodomain Containing 4)
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MYC expression • MYC mutation
1year
Comprehensive genomic profiling for advanced hepatocellular carcinoma in clinical practice. (PubMed, Hepatol Int)
The results of the present study suggested that druggable gene alterations may provide useful information not only in proposing alternative treatment after standard of care but also in selecting second-line targeted treatments after immunotherapy for patients with advanced HCC.
Journal • IO biomarker • Metastases
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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TP53 mutation • ARID1A mutation • CTNNB1 mutation • MYC mutation • TERT mutation
1year
Circulating Tumor DNA as a Prognostic Biomarker for CDK 4/6 Inhibitor Therapy in Metastatic Breast Cancer (SABCS 2024)
In this study, we analyzed a subset of patients from the Dallas Metastatic Breast Cancer Study comprised of patients with HR+, HER2 non-amplified, mBC who underwent treatment with a CDK4/6 inhibitor (palbociclib, ribociclib, abemaciclib) and ET, became resistant to therapy, and had ctDNA testing (n=102). There is an urgent need to develop predictive biomarkers that capture real-time changes in tumor biology. Tissue analyses from patients resistant to CDK4/6 inhibitors have demonstrated a 14%-28% expression of CCNE1, 16% of MYC mutations, and 9%-10% expression of RB mutations. In our study, we observe a lower rate of detection in ctDNA of each gene.
Circulating tumor DNA • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • CCNE1 (Cyclin E1)
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HR positive • RB1 mutation • MYC expression • MYC mutation • CCNE1 expression • HER-2 amplification + HR-positive
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FoundationOne® Liquid CDx • Tempus xF Assay
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Ibrance (palbociclib) • Verzenio (abemaciclib) • Kisqali (ribociclib)
over1year
Childhood and Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With t(8;14) and BCL2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge. (PubMed, Pediatr Dev Pathol)
We concluded that both could be diagnosed as "DLBCL-NOS with MYC rearrangement" using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World Health Organization Classifications of Haematolymphoid Tumors (WHO-HAEM5). This report illustrates diagnostic challenges and treatment dilemmas that may be encountered, particularly for adolescent and young adults (AYA).
Journal • IO biomarker
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2)
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TP53 mutation • BCL2 expression • MYC rearrangement • MYC mutation
over2years
Radiotherapy affects immunotherapy efficacy based on tumor mutation status in patients with metastatic NSCLC (ESMO 2023)
Patients were excluded if they received targeted therapy, prior concurrent chemo-RT followed by durvalumab, or RT after IO discontinuation...Pembrolizumab was the most used IO agent (77%)...Our findings suggest certain gene mutations can affect radiotherapy's effect on immunotherapy efficacy in mNSCLC. Further prospective studies are needed to verify these results.
Clinical • PD(L)-1 Biomarker • IO biomarker • Metastases
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • FGFR (Fibroblast Growth Factor Receptor)
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TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • PIK3CA mutation • HER-2 mutation • ARID1A mutation • STK11 mutation • ALK mutation • MET mutation • MYC mutation
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Keytruda (pembrolizumab) • Imfinzi (durvalumab)
over2years
Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma. (PubMed, Front Pharmacol)
Additional potential biomarkers for the immunotherapy of UrC are mismatch repair (MMR) status and PD-L1 expression profile. In addition, combined regimens featuring targeted agents and immune checkpoint blockers might increase antitumor activity and exert better efficacy in UrC patients with specific mutational burden.
Review • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus)
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PD-L1 expression • TP53 mutation • KRAS mutation • SMAD4 mutation • MYC mutation • GNAS mutation
over2years
Identification of BRAF, CCND1, and MYC mutations in a patient with multiple primary malignant tumors: a case report and review of the literature. (PubMed, World J Surg Oncol)
This is the first reported case of a patient with the co-existence of MM, PTC and ccRCC undergoing chemotherapy with a favorable prognosis. Herein, we suggest that such a combination may be non-random, as for mutation of BRAF might account for the co-occurrence of PTC and MM, while mutations of CCND1 and MYC cause the coexistence of MM and ccRCC. This finding may provide valuable guidance on the diagnosis and treatment of such disease, as well as the prevention of developing a second or third tumor for patients with a single primary.
Review • Journal
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BRAF (B-raf proto-oncogene) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CCND1 (Cyclin D1)
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BRAF mutation • CCND1 amplification • MYC mutation • CCND1 mutation
over2years
DNA METHYLATION ANALYSIS OF B-CELL PROLYMPHOCYTIC LEUKEMIA REVEALS TWO EPIGENETIC SUBTYPES WITH DISTINCT BIOLOGICAL AND CLINICAL FEATURES (EHA 2023)
Our DNA methylation analyses showed that B-PLL is heterogeneous, and cannot be epigenetically classified as CLL, MCL or MZL. Part of this B-PLL heterogeneity may be related to the presence of 2 B-PLL epitypes with potential different cell of origin, genetic mutations, transcriptional profile and clinical outcome. DNA methylation, Lymphoproliferative disorder
Clinical • Epigenetic controller
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SF3B1 (Splicing Factor 3b Subunit 1) • CCND1 (Cyclin D1) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3)
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MYC expression • MYC mutation
over2years
Multi-factor dynamic analysis of ctDNA and CTC to aid the diagnostic prognosis of patients with metastatic breast cancer (MBC). (ASCO 2023)
In this study, we identified multiple liquid biopsy factors including ctDNA and CTC-clusters at various time points, and found that these are associated with prognosis. The synergy of multiple ctDNA mutations and CTC-clusters during treatment may expand the predictive role of liquid biopsy for the monitoring of disease progression in patients MBC.
Clinical • Circulating tumor DNA • Metastases
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BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDH1 (Cadherin 1)
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TP53 mutation • BRAF mutation • TP53 wild-type • BRAF wild-type • MYC mutation • CDH1 mutation
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Guardant360® CDx
over2years
PRECURSOR B-LYMPHOBLASTIC LYMPHOMA PRESENTING AS A PRIMARY JAW TUMOR: CLINICAL AND GENOMIC FINDINGS (ASPHO 2023)
Our patient presented with an extensive, localized mass of the mandible and surrounding musculature, clinically suggestive of Ewing sarcoma or other sarcoma of soft tissue and bone. However, this small round blue cell tumor proved to be a high-grade, precursor-B non-Hodgkin lymphoma. In contrast to immature T-lineage pediatric malignancies, most precursor-B lymphoblastic malignancies manifest as leukemia.
Clinical • IO biomarker
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MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • CD19 (CD19 Molecule) • KMT2D (Lysine Methyltransferase 2D) • PAX5 (Paired Box 5) • CD79A (CD79a Molecule)
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MYC overexpression • KMT2D mutation • MYC expression • MYC mutation