Mutations in genes, including MUC16, ATM, NOTCH3, KMT2A, and CTNNA1, were associated with the poor prognosis of advanced OCCC. The risk stratification according to these genes demonstrated acceptable prediction power of prognosis and platinum response, suggesting the potential to be a novel target for precision medicine.

1 year ago

Journal • Metastases

KMT2A (Lysine Methyltransferase 2A) • MUC16 (Mucin 16, Cell Surface Associated) • NOTCH3 (Notch Receptor 3) • CTNNA1 (Catenin Alpha 1)

ATM mutation • MUC16 mutation • NOTCH3 mutation

1year

Long-Term Survivor of Intrahepatic Cholangiocarcinoma for over 18 Years: Case Study with Longitudinal Histo-molecular and Tumor Immune Microenvironment Characterization and Systematic Review of the Literature. (PubMed, J Gastrointest Cancer)

This case study highlights the essential role of a stringent follow-up after resection of intrahepatic cholangiocarcinoma for detecting early relapsing tumors. Moreover, it shows the importance of the molecular characterization of multiple tumors for understanding their real nature. The accurate study of long-surviving patients highlights the features that are critical for outcome improvement.

1 year ago

Review • Journal

NOTCH3 (Notch Receptor 3) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))

NOTCH3 mutation • NBN mutation

over1year

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract. (PubMed, Front Oncol)

SPINK5, a known tumor suppressor gene in HNSCC, was already downregulated in low-grade dysplastic lesions, indicating an early deactivation in the evolution of the disease. Genomic alterations as well as aberrant immune gene expression can be observed early in the evolution of tumors of the upper aerodigestive tract, highlighting the potential for targeting early mechanisms of disease progression.

over 1 year ago

Journal

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • NOTCH3 (Notch Receptor 3)

TP53 mutation • CDKN2A negative • NOTCH3 mutation

nCounter® PanCancer Immune Profiling Panel

over1year

Molecular profiling of a bladder cancer with very high tumour mutational burden. (PubMed, Cell Death Discov)

Notably, the above-mentioned mutations and the elevated hypoxia score make the targeting of p53 and/or hypoxia related pathways a plausible personalized medicine option for this bladder cancer, particularly in combination with immunotherapy. Our data suggest a requirement for molecular profiling in bladder cancer to possibly select appropriate immune-checkpoint therapy.

over 1 year ago

Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PD-1 (Programmed cell death 1) • PD-L2 (Programmed Cell Death 1 Ligand 2) • NOTCH3 (Notch Receptor 3) • TP63 (Tumor protein 63)

PD-L1 expression • TP53 mutation • TMB-H • NOTCH3 mutation • PD-L2 expression

almost2years

Molecular profiling using next generation sequencing with high purity enrichment of circulating tumor cells (AACR 2024)

Molecular analysis of CTCs is a challenge since CTCs are very rare in the blood and there are technical limitations in isolating CTCs with sufficient purity. In this study, we developed the process for NGS analysis on very low number of CTCs with high purity, isolated using CytoGen's Smart Biopsyâ„¢ system. Overall, these process could provide information for diagnosis and appropriate treatment of metastatic breast cancer along with the results of our ongoing clinical trials.

almost 2 years ago

Circulating tumor cells • Next-generation sequencing • Tumor cell

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NF2 (Neurofibromin 2) • NOTCH3 (Notch Receptor 3) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)

TP53 mutation • KRAS mutation • BRAF mutation • NF2 mutation • NOTCH3 mutation

Oncomine™ Pan-Cancer Cell-Free Assay • Oncomine™ Comprehensive Assay Plus

almost2years

The evolution of premalignant lesions in the upper aerodigestive tract (ETHNC 2024)

SPINK5, a known tumour suppressor gene in HNSCC, was already downregulated in low-grade dysplastic lesions, indicating an early deactivation in the evolution of the disease. Genomic alterations as well as aberrant immune gene expression can be observed early on in the evolution of tumours of the upper aerodigestive tract, highlighting the potential for targeting early mechanisms of disease progression.

almost 2 years ago

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • NOTCH3 (Notch Receptor 3)

TP53 mutation • CDKN2A negative • NOTCH3 mutation

nCounter® PanCancer Immune Profiling Panel

almost2years

Thymic-Epithelial-Cell-Dependent Microenvironment Influences Proliferation and Apoptosis of Leukemic Cells. (PubMed, Int J Mol Sci)

In support, we also detected metabolic changes as potential drivers of leukemic cell survival. Our studies could shed light on T-cell/stroma crosstalk to human leukemic cells and propose our culture system to test pharmacological treatment for T-ALL.

almost 2 years ago

Journal

NOTCH1 (Notch 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • NOTCH3 (Notch Receptor 3) • CXCL12 (C-X-C Motif Chemokine Ligand 12)

NOTCH1 mutation • NOTCH3 mutation • NOTCH3 overexpression

almost2years

The genetic and immune features of salivary gland secretory carcinoma with high-grade transformation. (PubMed, Oral Dis)

Our findings reveal novel gene alterations involved in the progression of HGT in SCs. Most HGT SCs patients cannot benefit from PD-L1 blocking and may be approached with a distinct treatment strategy including the lymph node dissection and application of molecular target drugs in precision oncology.

almost 2 years ago

Journal • PD(L)-1 Biomarker • IO biomarker

RET (Ret Proto-Oncogene) • ARID1A (AT-rich interaction domain 1A) • NRG1 (Neuregulin 1) • CD8 (cluster of differentiation 8) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • NOTCH3 (Notch Receptor 3) • GATA6 (GATA Binding Protein 6)

PD-L1 expression • ARID1A mutation • RET mutation • NOTCH3 mutation • MLL mutation • ETV6 mutation

almost2years

Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres. (PubMed, J Transl Med)

The results presented in this study show the value and the challenge of a genomics-driven network trial. The data can be also a valuable resource as a validation cohort for Immunotherapy and Target therapy genomic biomarker research.

almost 2 years ago

Journal • Tumor mutational burden • IO Companion diagnostic • IO biomarker • Metastases

BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH3 (Notch Receptor 3) • NOTCH4 (Notch 4)

BRAF mutation • RET mutation • NOTCH3 mutation • PDGFRB mutation

2years

Molecular Findings on Plasma Cell-Free DNA Analysis Among Adults with Histiocytic Neoplasms (ASH 2023)

"cfDNA analysis may have a role to identify potential drivers of pathogenesis among cases that are unable to successfully undergo tissue molecular analysis. Further studies are underway to characterize other novel alterations that were discovered in the cfDNA analysis."

2 years ago

Clinical

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NOTCH1 (Notch 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • MSH6 (MutS homolog 6) • NOTCH3 (Notch Receptor 3) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • FUS (FUS RNA Binding Protein) • MUTYH (MutY homolog) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TMEM127 (Transmembrane Protein 127) • LMTK2 (Lemur Tyrosine Kinase 2)

BRAF V600E • BRAF fusion • NOTCH3 mutation

2years

A Rare Case of CD1a +/CD207 + and S100 - Langerhans Cell Histiocytosis with Multi-System Risk Organ Involvement in Adult (ASH 2023)

Arginine Vasopressin Deficiency (AVP-D) was diagnosed, and desmopressin was initiated...While it is effective in adults, its limited tolerance favors the use of cytarabine or cladribine. NCT02670707 is an ongoing trial comparing cytarabine monotherapy versus Vinblastine/Prednisone for frontline treatment. BRAF inhibitors are also being increasingly investigated. Prospective trials to optimize the duration of therapy (LCH-IV) and potential combination therapies are currently underway.

2 years ago

Clinical

KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CD20 (Membrane Spanning 4-Domains A1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • CREBBP (CREB binding protein) • JAK1 (Janus Kinase 1) • NOTCH3 (Notch Receptor 3) • ARAF (A-Raf Proto-Oncogene) • CD68 (CD68 Molecule) • CTNNA1 (Catenin Alpha 1) • DICER1 (Dicer 1 Ribonuclease III)

BRAF V600E • KRAS mutation • BRAF V600 • CD20 positive • ERBB3 mutation • NOTCH3 mutation

cytarabine • prednisone • cladribine • vinblastine

2years

Molecular profiling and prognostic analysis in Chinese cholangiocarcinoma: an observational, retrospective single-center study. (PubMed, Invest New Drugs)

Furthermore, mutations in APC, DAXX, FANCA, LTK, MAP2K4, and NOTCH1 were associated with a poor prognosis (P < 0.05). This study provides an overview of genetic alterations in Chinese patients with CCA, which will provide novel potential biomarkers for the diagnosis of CCA and may guide targeted therapeutic strategies for Chinese patients with CCA.

2 years ago

Retrospective data • Journal

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • AXL (AXL Receptor Tyrosine Kinase) • SMAD4 (SMAD family member 4) • FANCA (FA Complementation Group A) • NOTCH3 (Notch Receptor 3) • DAXX (Death-domain associated protein) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4)

TP53 mutation • APC mutation • SMAD4 mutation • FANCA mutation • NOTCH3 mutation