Novel combination treatments are also discussed as strategies to improve outcomes and overcome resistance. Understanding these molecular mechanisms is critical to advancing personalized treatment approaches in CRC and improving patient prognosis.

1 day ago

Review • Journal • IO biomarker

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability)

TP53 mutation • KRAS mutation • BRAF mutation • NRAS mutation

A practice-oriented genome-profiling study for acute myeloid leukemia using the novel HANDLE system: HM-screen-JAPAN02. (PubMed, Int J Hematol)

TP53 and NRAS mutations were associated with increased risk of death (hazard ratio = 3.98 and 5.50, respectively). In a survey of physicians at the participating centers, 63% reported that the genomic panel was clinically useful, particularly for assessing clinical risk and evaluating indications for hematopoietic stem cell transplantation.

2 days ago

Journal

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog)

TP53 mutation • NRAS mutation

Signet-ring cell carcinoma of the transverse colon in a 10-year-old girl: A case report. (PubMed, World J Gastrointest Oncol)

Primary colonic SRCC is a rare malignant tumor with atypical clinical symptoms, and timely identification and intervention are crucial for improving the prognosis.

2 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog)

KRAS mutation • BRAF mutation • NRAS mutation • PIK3CA mutation

Molecular pathology of gastrointestinal neoplasms (PubMed, Magy Onkol)

The responsiveness of gastrointestinal stromal tumors to imatinib requires validation via molecular testing. Patients diagnosed with pancreatic cancer may see enhanced survival rates by targeted therapy addressing microsatellite instability and BRCA mutations. In bile duct malignancies, especially intrahepatic cholangiocarcinoma of the small duct variant, the analysis of IDH1 mutations and FGFR2 fusions presents new treatment prospects.

3 days ago

Review • Journal • BRCA Biomarker

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CLDN18 (Claudin 18) • BRCA (Breast cancer early onset)

KRAS mutation • BRAF mutation • HER-2 amplification • NRAS mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • BRCA mutation • IDH1 mutation + FGFR2 fusion

imatinib

Primary intracranial malignant melanoma in an adolescent girl with NRAS and TP53 mutations: case report and literature review. (PubMed, Front Oncol)

We summarize previous cases to discuss the clinical manifestations, imaging, pathological and genetic characteristics of the disease, aiming to improve the clinician's understanding of the disease. This case underscores the PIMM as a differential diagnosis and prompt surgical treatment for adolescents with epileptic seizures accompanied by intracranial space-occupying lesions, even in the absence of extensive skin blackening.

9 days ago

Review • Journal

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog)

TP53 mutation • NRAS mutation

Ferroptosis and Intrinsic Drug-induced Liver Injury by Acetaminophen and Other Drugs: A Critical Evaluation and Historical Perspective. (PubMed, J Clin Transl Hepatol)

More recently, ferroptosis-a novel, non-apoptotic form of cell death-was identified in NRAS-mutant HT-1080 fibrosarcoma cells exposed to erastin and other NRLs...Overall, the published data support the idea that multi-layered endogenous antioxidant defense mechanisms in the liver limit the occurrence of pathophysiologically relevant LPO under normal conditions. Only when these defense mechanisms are severely compromised does ferroptosis become a significant mode of drug-induced cell death.

9 days ago

Review • Journal

GPX4 (Glutathione Peroxidase 4)

NRAS mutation

methotrexate • erastin • rifampicin

11d

Molecular testing of gastrointestinal tumours - current status and future prospects. (PubMed, Rozhl Chir)

In gallbladder and biliary tract cancers, we are mainly looking for IDH1 and IDH2 mutations, FGFR2 gene fusions and mutations, HER2 amplifications or mutations, as well as mutations of BRAF or BRCA1/2. All results should be discussed within the molecular tumor board.

11 days ago

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

HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)

PD-L1 expression • BRCA2 mutation • BRCA1 mutation • BRAF mutation • HER-2 amplification • NRAS mutation • HER-2 expression • IDH2 mutation • FGFR2 mutation • FGFR2 fusion • HER-2 amplification + PD-L1 expression

11d

SF3B1 Gene Mutations and Their Significance for Patients with Myelodysplastic Neoplasms (MDS) (ASH 2024)

Three are still alive and are undergoing azacitidine treatment at 6.5, 8.5, and 21 months after their diagnosis.Identification of splicing factor gene mutations is an important diagnostic tool for the stratification of MDS patients...Other biological factors such as the mutation variant, association with complex karyotypes, and mutations in other genes, may also affect the prognosis of patients with mutated SF3B1. Therefore, a comprehensive view that includes all cytogenomic, molecular, and clinical data is important for accurate diagnosis and personalized treatment of MDS patients.Supported by MH CZ-DRO 0064165

11 days ago

Clinical

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • 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) • BCORL1 (BCL6 Corepressor Like 1)

TP53 mutation • NRAS mutation • TET2 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • Chr del(5q) • SF3B1 K666N • SF3B1 K700E

Archer® VariantPlex® Myeloid panel

azacitidine

12d

Soft tissue tumor with BRAF and NRAS mutations sharing features with NTRK-rearranged spindle cell neoplasm: A case report expanding the spectrum of spindle cell tumor with kinase gene alterations. (PubMed, Pathol Int)

Since BRAF activation occurs in BRAF fusion gene tumors and BRAF mutations, they could share a similar mechanism in tumorigenesis. This case suggests the further expansion of kinase-related spindle cell tumors.

12 days ago

Journal

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CD34 (CD34 molecule) • NTRK (Neurotrophic receptor tyrosine kinase)

BRAF V600E • BRAF mutation • NRAS mutation • BRAF V600 • NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • NRAS Q61K • NRAS Q61 • BRAF fusion • NRAS mutation + BRAF mutation

12d

Treatment of stage IV colorectal cancer: A retrospective cohort study assessing whether failure of first‑line treatment indicates failure of second‑line treatment. (PubMed, Mol Clin Oncol)

Although current first- and second-line therapies stratify for KRAS/NRAS/BRAF mutations, microsatellite instability, tumour location and co-morbidities, the therapeutic mainstay for the first- and second-line treatment of the majority of patients consists of 5-fluorouracil (5-FU)-based chemo-immunotherapy. By exchanging the chemotherapeutic combination partner from oxaliplatin to irinotecan or vice versa, plus the additive anti-epidermal growth factor receptor/anti-vascular endothelial growth factor antibody, the negative factor of non-response to first-line therapy could not be overcome by second-line treatment in this study population. These findings must be confirmed in larger studies, but indicate the need for novel treatment options, especially for patients not responding to first-line 5-FU-based chemo-immunotherapy.

12 days ago

Retrospective data • Journal • IO biomarker • Metastases

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability)

KRAS mutation • BRAF mutation • NRAS mutation

5-fluorouracil • oxaliplatin • irinotecan

13d

Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification. (PubMed, Front Pharmacol)

Molecular docking demonstrated that Encorafenib inhibits the V600E variant BRAF protein less effectively compared to its wild-type counterpart. Overall, this study highlights the importance of comprehensive molecular screening and bioinformatics in understanding the mutational landscape of CRC in the Saudi population, ultimately improving targeted drug treatments.

13 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)

BRAF V600E • KRAS mutation • BRAF mutation • NRAS mutation • BRAF V600 • KRAS G12D • KRAS G12 • KRAS G13 • NRAS G12D • NRAS G13

TruSight Tumor 15 Assay

Braftovi (encorafenib)

15d

Prognostic and Molecular Characterization of Metastatic Transverse Colon Cancer: Insights From a Single-Center Retrospective Study. (PubMed, Cureus)

These findings underscore the complex biological nature of TCC and the necessity for tailored therapeutic approaches, especially as survival rates remain suboptimal. Further multicenter, prospective studies are recommended to establish refined treatment strategies for TCC patients.

15 days ago

Retrospective data • Journal • Metastases

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability)

KRAS mutation • BRAF mutation • NRAS mutation

15d

Effects of ERK1/2 Inhibitors on the Growth of Acute Leukemia Cells. (PubMed, Anticancer Res)

ERK1/2 inhibitors may serve as novel molecular-targeted drugs for treating leukemia with NRAS mutations.

15 days ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • MYC (V-myc avian myelocytomatosis viral oncogene homolog)

NRAS mutation • MYC expression

ulixertinib (BVD-523) • SCH772984 • temuterkib (LY3214996)

20d

Myxofibrosarcoma with epithelioid morphology: A clinicopathological study of 44 cases with emphasis on differential diagnosis. (PubMed, Histopathology)

These findings suggest that UV-driven malignancies (including melanoma or sarcomatoid squamous cell carcinoma) may histologically mimic eMFS and should be considered in cases of eMFS presenting at atypical anatomical sites.

20 days ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog)

TMB-H • NRAS mutation • NRAS Q61

20d

IN10018 Monotherapy and Combination Therapy for Metastatic Melanoma (clinicaltrials.gov)

P1, N=120, Active, not recruiting, InxMed (Shanghai) Co., Ltd. | Recruiting --> Active, not recruiting | Trial completion date: Sep 2024 --> Dec 2025 | Trial primary completion date: Jun 2024 --> Jun 2025

20 days ago

Enrollment closed • Trial completion date • Trial primary completion date • Combination therapy • Metastases

NRAS (Neuroblastoma RAS viral oncogene homolog)

NRAS mutation • NRAS Q61 • NRAS G12 • NRAS G13

Tecentriq (atezolizumab) • Cotellic (cobimetinib) • ifebemtinib (IN10018)

21d

The value of NGS-based multi-gene testing for differentiation of benign from malignant and risk stratification of thyroid nodules. (PubMed, Front Oncol)

Nodules with RAS mutations (NRAS, KRAS, HRAS) and TP53 inactivating mutations were considered to be in the intermediate-risk group, while those with non-pathogenic mutations (negative and variants of uncertain significance) were placed in the low-risk group. When combined with cytopathology, NGS increases the sensitivity of diagnosing benign and malignant thyroid nodules, and the reference is useful for patient risk stratification.

21 days ago

Journal • Next-generation sequencing

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RET (Ret Proto-Oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • BRAF V600E • KRAS mutation • NRAS mutation • BRAF V600 • RET fusion • RAS mutation • RET mutation • HRAS mutation • TERT mutation • BRAF V600E + TERT mutation • TERT promoter mutation

23d

Childhood acute lymphoblastic leukemia with CREBBP gene mutation: a clinical analysis of 14 cases (PubMed, Zhongguo Dang Dai Er Ke Za Zhi)

ALL with CREBBP gene mutation is more common in girls and has a low induction remission rate and a high recurrence rate, and it is often accompanied by other types of gene mutations and abnormal karyotypes. Most children with recurrence can achieve long-term survival after immunotherapy or hematopoietic stem cell transplantation.

23 days ago

Retrospective data • Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CREBBP (CREB binding protein) • PAX5 (Paired Box 5) • SH2B3 (SH2B Adaptor Protein 3)

KRAS mutation • NRAS mutation • CREBBP mutation

Blincyto (blinatumomab)

24d

Correlation of Cytologic Features With Molecular Testing of Indeterminate Oncocytic (Hürthle Cell) Thyroid Lesions. (PubMed, Diagn Cytopathol)

Microfollicles were infrequently seen in nodules with oncocytic predominance; however, those that had microfollicles had high incidence of positive molecular findings. Oncocytic nuclear atypia was present in all the resected neoplastic cases. NRAS and KRAS mutations were the most common molecular abnormalities detected.

24 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RAS (Rat Sarcoma Virus)

KRAS mutation • NRAS mutation • RAS mutation

27d

Pharmacological targeting of casein kinase 1δ suppresses oncogenic NRAS-driven melanoma. (PubMed, Nat Commun)

Mechanistically, CK1δ directly phosphorylates USP46 and activates its deubiquitinase activity towards NRAS mutants, thus promoting oncogenic NRAS-driven melanocyte malignant transformation and melanoma progression in vitro and in vivo. Our findings underscore the significance of the CK1δ-USP46 axis in stabilizing oncogenic NRAS mutants and provide preclinical evidence that targeting this axis holds promise as a therapeutic strategy for human melanoma harboring NRAS mutations.

27 days ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • USP46 (Ubiquitin Specific Peptidase 46)

NRAS mutation • NRAS Q61K • NRAS Q61 • NRAS Q61R

27d

A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry. (PubMed, Discov Oncol)

Her favorable response to conventional therapy underscores the importance of molecular phenotyping in the treatment of this disease. The continued use of NGS to gather relevant molecular data is crucial for further understanding the molecular phenotype and prognosis of such atypical ALL cases.

27 days ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • KMT2A (Lysine Methyltransferase 2A) • WT1 (WT1 Transcription Factor)

NRAS mutation • EZH2 mutation • NRAS overexpression • WT1 overexpression

28d

The prognostic value of tumor-infiltrating lymphocytes in vulvovaginal melanoma. (PubMed, Int J Gynecol Cancer)

The study showed that brisk tumor-infiltrating lymphocytes and stromal tumor-infiltrating lymphocytes were a marker for disease progression, and for response to immunotherapy strategies. To validate these findings on a larger scale, further research is warranted through a multicenter study with a larger cohort and additional genetic and translational analysis.

28 days ago

Clinical • Journal • Tumor-infiltrating lymphocyte • IO biomarker

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase)

BRAF mutation • NRAS mutation • KIT mutation

28d

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan. (PubMed, Cancer Med)

This study highlights distinct genetic abnormalities and actionable alterations in Japanese melanoma patients. This suggests a lower tumor mutational burden in East Asian cutaneous melanoma, which may affect the efficacy of immune checkpoint inhibitors. The heterogeneity of driver mutations across and within individuals highlights the need for personalized treatment approaches.

28 days ago

Journal • Tumor mutational burden • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q)

BRAF V600E • KRAS mutation • NRAS mutation • BRAF V600 • PTEN mutation • BRAF V600K • TMB-L • NF1 mutation

Cholecystectomy Is a Risk Factor for Proximal Colon Cancer That May Also Relate to its Aggressiveness. (PubMed, J Surg Res)

Cholecystectomy was related to the development of proximal CRC in all its subsegments, seemingly associated with higher stages at diagnosis. Close surveillance should be considered in patients who undergo cholecystectomy.

1 month ago

Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)

KRAS mutation • BRAF mutation • NRAS mutation

Liquid biopsy-based comprehensive genomic profiling captures tumor heterogeneity and identifies cancer vulnerabilities in patients with RAS/BRAFV600E wild type metastatic colorectal cancer in the CAPRI 2-GOIM trial (AIOM 2024)

Materials and The phase II CAPRI 2-GOIM trial investigates the efficacy and safety of biomarkerdriven, cetuximab-based, sequence of three treatment lines in mCRC... Baseline plasma-based comprehensive genomic profiling is feasible with high concordance with tissue-based analysis. Liquid biopsy allows identification of misdiagnosed RAS/BRAF alterations and the ultra-selection of pts, which could benefit from anti-EGFR therapies. Finally, potentially actionable gene alterations were found in half of the pts.

1 month ago

Clinical • Late-breaking abstract • Liquid biopsy • Metastases • Biopsy

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • RAS (Rat Sarcoma Virus)

BRAF V600E • KRAS mutation • HER-2 amplification • NRAS mutation • BRAF V600 • PTEN mutation • BRAF wild-type • NF1 mutation • EGFR amplification + ERBB2 amplification

FoundationOne® CDx

Erbitux (cetuximab)

Identification of Anti-Inflammatory and Anti-Cancer Compounds Targeting the NF-κB-NLRP3 Inflammasome Pathway from a Phytochemical Library of the Sideritis Genus. (PubMed, J Ethnopharmacol)

The database established here represents a valuable resource for the screening of bioactivites of the Sideritis genus. The experimental validation of the anti-inflammatory and cytotoxic activities of selected compounds proved that virtual drug screening and molecular docking are suitable tools for the identification of putative drug candidates. Verbascoside was among the top 10 compounds binding to two key anti-inflammatory proteins, NLRP3 and NF-kB. Additionally, data from the NCI indicate that verbascoside is not linked to main drug resistance mechanisms.

1 month ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • NLRP3 (NLR Family Pyrin Domain Containing 3)

NRAS mutation

KRASG12D-Mutated Metastatic Colorectal Cancer: Clinical, Molecular, Immunologic, and Prognostic Features of a New Emerging Targeted Alteration. (PubMed, JCO Precis Oncol)

A detail estimation of KRASG12D mut mCRC patients' characteristics and expected outcomes may be useful when planning future studies in this subgroup. The high prevalence of PI3K/PTEN/Akt pathway activating alterations may affect the efficacy of targeted strategies.

1 month ago

Journal • Metastases

KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog)

BRAF V600E • KRAS mutation • NRAS mutation • PIK3CA mutation • BRAF V600 • KRAS G12D • RAS mutation • KRAS G12

Avastin (bevacizumab) • 5-fluorouracil • oxaliplatin • irinotecan • leucovorin calcium

Role of Targeted Sequencing in Routine Diagnostics of Spitz Melanocytic Neoplasms-An Analysis of 70 Cases. (PubMed, J Cutan Pathol)

It is often not possible to reliably distinguish Spitz neoplasms from spitzoid melanocytic tumors without identifying their driver genomic alterations. Applying next-generation sequencing in diagnostically problematic tumors improves diagnostic accuracy.

1 month ago

Journal

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1)

BRAF mutation • NRAS mutation • HRAS mutation • NRAS mutation + BRAF mutation

A Novel NRAS Variant Near the Splice Junction in Moroccan Childhood Acute Lymphoblastic Leukemia: A Molecular Dynamics Study. (PubMed, Biochem Genet)

Our findings suggest that the NRAS p.Arg97Thr variant may disrupt the splicing machinery and functions of the protein, thus playing a vital role in leukemogenesis. In addition, the highly druggable pocket may possibly be studied for its therapeutic implications.

1 month ago

Journal

KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RAS (Rat Sarcoma Virus)

KRAS mutation • NRAS mutation

Cytologic and Molecular Assessment of Isthmus Thyroid Nodules and Carcinomas. (PubMed, Thyroid)

IF-PTC from the isthmus is molecularly different compared with IF-PTC from the lobes. More data are needed to know if a change in surgical therapy is warranted in isthmic thyroid cancers relative to lobar cancers and if this molecular data should influence isthmic thyroid cancer management and monitoring.

1 month ago

Journal

BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RET (Ret Proto-Oncogene) • SPOP (Speckle Type BTB/POZ Protein) • NTRK (Neurotrophic receptor tyrosine kinase) • PAX8 (Paired box 8)

BRAF V600E • NRAS mutation • BRAF V600 • RET fusion

A prospective clinical study to evaluate the efficacy of dexitabine in maintenance therapy after hematopoietic stem cell transplantation in juvenile myelomonocytic leukemia (ChiCTR2400091166)

P=N/A, N=40, Not yet recruiting, The Seventh Affiliated Hospital, Sun Yat-sen University; The Seventh Affiliated Hospital, Sun Yat-sen University

1 month ago

New trial

KRAS (KRAS proto-oncogene GTPase) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)

KRAS mutation • NRAS mutation • NF1 mutation • PTPN11 mutation • CBL mutation

Development and Validation of a Biopsy-Free Scoring System for Screening Myelodysplastic Syndrome (MDS) and Associated Diseases in Cytopenic Patients (ASH 2024)

For patients with a probability score < 45%, a bone marrow study may not be needed, with a recommended follow-up every 6–12 months. This comprehensive analysis provides a useful and non-invasive predictive model that enhances diagnostic accuracy which potentially reduces unnecessary procedures.

1 month ago

Clinical • Biopsy

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • SETBP1 (SET Binding Protein 1) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TP53 mutation • KRAS mutation • NRAS mutation • IDH2 mutation • NPM1 mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation

Oncomine Myeloid Research Assay

Comprehensive Genomic Profiling (CGP) of Acute Lymphoblastic Leukemias with Foundation One Heme Identifies Actionable Genomic Alterations and Biomarkers (ASH 2024)

Conclusions : This analysis of 2,637 samples comprising a variety of molecular subtypes of ALL demonstrated that the F1H assay detects pathogenic genomic alterations with diagnostic, prognostic, and therapeutic significance. As both the treatment landscape and disease classification system in ALL have continued to evolve over time, CGP assays such as F1H can play a critical role in clinical decision making by simultaneously assessing the presence and absence of numerous actionable genomic alterations and biomarkers with a single assay.

1 month ago

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • 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) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • P2RY8 (P2Y Receptor Family Member 8) • PBX1 (PBX Homeobox 1) • ABL2 (ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase)

TP53 mutation • KRAS mutation • NRAS mutation • PTEN mutation • CDKN2A deletion

FoundationOne® Heme CDx

Genomic Complexity Correlates with the Degree of Marrow Independence of Malignant Plasma Cells in the Context of Extramedullary Disease (ASH 2024)

Several patients with prior melphalan exposure have SBS99 evident in several biopsies, consistent with single cell expansion from MM cells surviving transplant and subsequently seeding in multiple sites...EMD are more complex in general than PMD, while IMD shows only trends to increased genomic aberration compared with BM. Ongoing analyses include an expansion in WGS samples, and correlation of genomic features with clinical response to therapy.

1 month ago

Tumor mutational burden • BRCA Biomarker

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA2 (Breast cancer 2, early onset) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • KMT2C (Lysine Methyltransferase 2C) • FAT1 (FAT atypical cadherin 1)

TP53 mutation • KRAS mutation • NRAS mutation

MSK-IMPACT Heme

melphalan

The potential role of next-generation sequencing in identifying MET amplification and disclosing resistance mechanisms in NSCLC patients with osimertinib resistance. (PubMed, Front Oncol)

The known resistance mechanisms, including MET amplification, EGFR (C797S, L718Q/R), TP53, CDK4, CDK6, CDKN2A, BRAF, KRAS, NRAS and PIK3CA mutations were also disclosed in our cohort. NGS assay can achieve a high concordance with FISH in MET amplification detection and has advantages in portraying various genetic alterations, which is of worthy in clinical promotion.

1 month ago

Journal • Next-generation sequencing

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NRG1 (Neuregulin 1) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6) • CYP3A4 (Cytochrome P450, family 3, subfamily A, polypeptide 4)

TP53 mutation • EGFR mutation • BRAF mutation • NRAS mutation • PIK3CA mutation • MET amplification • EGFR T790M • EGFR C797S • EGFR L718Q • BRAF amplification • EGFR C797S + MET amplification

Tagrisso (osimertinib)

Mitochondrial Proteome Defined Molecular Pathological Characteristics of Oncocytic Thyroid Tumors. (PubMed, Endocr Pathol)

Moreover, IDH2 is significantly overexpressed in OCA compared to OA highlighting its potential as a biomarker for differential diagnosis of oncocytic tumors and malignancy. These findings improve the understanding of oncocytic thyroid tumors molecular pathology and suggest IDH2 as a valuable marker for clinical management.

1 month ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)

NRAS mutation • HRAS mutation • TERT mutation • TERT promoter mutation

2ms

Non-small cell lung carcinoma with co-expression of TTF1 and p40: a clinicopathological analysis of six cases (PubMed, Zhonghua Bing Li Xue Za Zhi)

NSCLC with co-expression of p40 and TTF1 exhibits distinct clinicopathological features, immunophenotypes, molecular alterations, and clinical outcomes, characterized by rapid progression and poor prognosis. Pathologists should be vigilant in recognizing this entity to avoid misdiagnosis and missed diagnosis.

2 months ago

Journal

EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • EML4 (EMAP Like 4) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1)

EGFR mutation • NRAS mutation • PIK3CA mutation • ALK mutation • NKX2-1 expression • TTF1 expression

2ms

Extracellular vesicles powered cancer immunotherapy: Targeted delivery of adenovirus-based cancer vaccine in humanized melanoma model. (PubMed, J Control Release)

This study explores the potential of EVs for the selective delivery of cancer vaccines against malignancies, such as NRAS melanoma. Overall, this research could pave the way for applying autologous EVs as a safe and efficacious tool for targeted cancer therapy.

2 months ago

Journal • IO biomarker

NRAS (Neuroblastoma RAS viral oncogene homolog) • CD40LG (CD40 ligand)

NRAS mutation

2ms

Selective Clonal Regression After Interferon Therapy in Metastatic Melanoma. (PubMed, Am J Dermatopathol)

We present an example of the latter, where therapy with interferon induced regression of the metastatic-capable melanocytic population, with only the primary tumor melanocytic population persisting. To confirm this, we demonstrated BRAF mutational similarity between the 2 populations, and an additional NRAS mutation in the metastatic population, which was absent in the primary tumor.

2 months ago

Journal • Metastases

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)

BRAF mutation • NRAS mutation

2ms

CDK4 gene copy number increase and concurrent genetic changes in acral melanoma of a Chinese cohort. (PubMed, Pathology)

CDK4 high-level copy number increase coexists with other pathogenic mutations in AM. CDK4 appears to be a promising target for AM treatment and is expected to be combined with other targeted therapies.

2 months ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • BCL2L11 (BCL2 Like 11)

BRAF mutation • NRAS mutation • HER-2 mutation • BCL2L1 mutation • CDK4 mutation

2ms

BRAF and NRAS Mutations and the Association with Prognosis of Acral Lentiginous and Nodular Melanomas in Indonesia. (PubMed, Asian Pac J Cancer Prev)

In this study, melanoma patients are largely diagnosed at the late stages with ulceration and involvement of regional lymph nodes. BRAF mutations are associated with lower survival of cutaneous melanoma patients.

2 months ago

Journal

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)

BRAF mutation • NRAS mutation • NRAS mutation + BRAF mutation

2ms

Association of mutation profiles with metastasis in patients with non-small cell lung cancer. (PubMed, Front Oncol)

Patients with ALK mutant, BRAF mutant or NRAS mutant were more prone to metastasis, while the HER 2 mutation group was less metastatic. Patients with EGFR mutant NSCLC are more likely to develop bone, lung, or brain metastasis.

2 months ago

Journal

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) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)

KRAS mutation • EGFR mutation • BRAF mutation • NRAS mutation • PIK3CA mutation • ALK mutation • MET mutation • EGFR mutation + PIK3CA mutation

2ms

Mirdametinib + BGB-3245 in Advanced Solid Tumors (clinicaltrials.gov)

P1/2, N=23, Active, not recruiting, SpringWorks Therapeutics, Inc. | Recruiting --> Active, not recruiting | N=136 --> 23

2 months ago

Enrollment closed • Enrollment change • Combination therapy • Metastases

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)

KRAS mutation • BRAF mutation • NRAS mutation • BRAF fusion

mirdametinib (PD-0325901) • brimarefenib (BGB-3245)