News - NF1 mutation - LARVOL VERI

18h

Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas (clinicaltrials.gov)

P1/2, N=55, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2026 --> Dec 2029 | Trial primary completion date: Dec 2025 --> Dec 2028

18 hours ago

Trial completion date • Trial primary completion date

NF1 (Neurofibromin 1)

NF1 mutation

Verzenio (abemaciclib)

Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 (clinicaltrials.gov)

P1/2, N=160, Active, not recruiting, Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd. | Phase classification: P2 --> P1/2

3 days ago

Phase classification

NF1 (Neurofibromin 1)

NF1 mutation

luvometinib (FCN-159)

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

5 days 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

Neurofibromatosis Type 1 Patients With Epilepsy: A Comprehensive Analysis of Demographics, Comorbidities and Healthcare Outcomes. (PubMed, Exp Dermatol)

Multivariable logistic regression revealed that malignant brain neoplasms, paralytic ileus, scoliosis, pregnancy complications, paralysis, other neurological disorders, metastatic cancer, coagulopathy, drug abuse and hypertension were predictors of developing epilepsy in NF1 patients. Additionally, epilepsy in NF1 patients was associated with a shorter length of stay, lower total charges and fewer total procedures.

8 days ago

Retrospective data • Journal

NF1 (Neurofibromin 1)

NF1 mutation

10d

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. (PubMed, iScience)

The top five GTS in CNS tumors showed high genetic heterogeneity GTS analysis reclassifies CNS tumors as "NEC." 53.88% of patients diagnosed with GTS harbor potential precision oncology therapy target mutations. The results of our study deepen our understanding of CNS tumors, provide a reference direction for the future design of clinical trials, and further expect to improve disease entire process management in CNS tumors.

10 days ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • MSH2 (MutS Homolog 2)

TP53 mutation • NF1 mutation • MSH2 mutation

14d

TSPO deficiency promotes the progression of malignant peripheral sheath tumors by regulating the G2/M phase of the cell cycle via CDK1. (PubMed, Sci Rep)

More importantly, CDK1 knockdown induced significant cell cycle arrest in the G2/M phase. In summary, TSPO deficiency regulates the cell cycle in MPNSTs by targeting CDK1, which may be an effective molecular target for prognosis evaluation and treatment.

14 days ago

Journal • IO biomarker

BCL2 (B-cell CLL/lymphoma 2) • NF1 (Neurofibromin 1) • CASP3 (Caspase 3) • CASP8 (Caspase 8) • CCNA2 (Cyclin A2) • CDK2 (Cyclin-dependent kinase 2) • CDK1 (Cyclin-dependent kinase 1) • CCNB1 (Cyclin B1) • HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1)

NF1 mutation • CDKN1B expression

16d

ADVL1521: Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia (clinicaltrials.gov)

P2, N=10, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Oct 2025

16 days ago

Trial completion date

NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)

NF1 mutation • RAS mutation • PTPN11 mutation • CBL mutation

Mekinist (trametinib) • omipalisib (GSK2126458)

22d

Spine Stereotactic Radiosurgery Provides Long-Term Local Control and Overall Survival for Benign Intradural Tumors. (PubMed, Neurosurgery)

With long-term follow-up, spine radiosurgery is a safe and effective treatment for benign intradural tumors. In carefully selected patients, even with an NF1 mutation, SRS is associated with a high likelihood of local tumor control.

22 days ago

Journal • Surgery

NF1 (Neurofibromin 1)

NF1 mutation

24d

Progress and prospects in diagnosis and treatment of neurofibromatosis type 1 (PubMed, Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi)

However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.

24 days ago

Review • Journal

NF1 (Neurofibromin 1)

NF1 mutation

24d

Several suggestions for improving diagnosis and management of patients with neurofibromatosis type 1 (PubMed, Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi)

In this paper, we reviewed the current status of comprehensive diagnosis and treatment of NF1 in China, combine with our long-term experiences in diagnosis and treatment of this disease. Meanwhile, we propose future directions and several suggestions for the comprehensive diagnosis and treatment model for Chinese NF1 patients.

24 days ago

Review • Journal

NF1 (Neurofibromin 1)

NF1 mutation

26d

Circulating tumor DNA in conjunctival melanoma: landscape and surveillance value. (PubMed, Am J Ophthalmol)

Positive plasma ctDNA reflected the presence of metastases. The ctDNA could be used as a complement or alternative to tissue sequencing. High VAF ctDNA might indicate rapid disease progression in distant metastasis patients.

26 days ago

Journal • Circulating tumor DNA

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TP53 mutation • KRAS mutation • BRAF mutation • NRAS mutation • NF1 mutation

27d

Sporadic NF1-Mutated Inflammatory Polyps of the Colon: A Case Report and Brief Literature Review. (PubMed, Genes Chromosomes Cancer)

No abstract available

27 days ago

Review • Journal

NF1 (Neurofibromin 1)

NF1 mutation

28d

Mesenchymal-type genetic mutations are likely pre-requisite for glioblastoma multiforme to metastasize outside the central nervous system: an original case series and systematic review of the literature. (PubMed, World Neurosurg)

In sum, there is strong evidence that GBMs acquire novel mutations to survive outside the CNS. In some cases, tumor cells likely mutate after seeding scalp tissue during surgery, and in others, they mutate and spread without surgery. Future studies and genetic profiling of primary and metastatic lesions may help uncover the mechanisms of spread.

28 days ago

Review • Journal • Metastases

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CDK4 (Cyclin-dependent kinase 4) • VIM (Vimentin)

TP53 mutation • PTEN mutation • NF1 mutation • TERT mutation • VIM expression • CDK4 mutation

30d

PF-07284892 in Participants With Advanced Solid Tumors (clinicaltrials.gov)

P1, N=53, Terminated, Pfizer | Trial completion date: Nov 2025 --> Jun 2024 | Active, not recruiting --> Terminated; The study was prematurely discontinued due to strategic reasons, not major safety concerns, futility, or requests from any regulatory authorities

30 days ago

Trial completion date • Trial termination • Combination therapy • Metastases

ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NF1 (Neurofibromin 1)

BRAF V600E • EGFR mutation • BRAF V600 • ALK positive • NF1 mutation • RAS mutation • ROS1 positive

Erbitux (cetuximab) • Lorbrena (lorlatinib) • Mektovi (binimetinib) • Braftovi (encorafenib) • PF-07284892

cNF Natural Hx: Natural History Study of Cutaneous Neurofibromas in People With NF1 (clinicaltrials.gov)

P=N/A, N=500, Active, not recruiting, Johns Hopkins University | Recruiting --> Active, not recruiting | Trial completion date: Jun 2028 --> Jun 2029 | Trial primary completion date: Dec 2027 --> Dec 2028

1 month ago

Enrollment closed • Trial completion date • Trial primary completion date

NF1 (Neurofibromin 1)

NF1 mutation

Clinical utility of liquid-based comprehensive genomic profiling (CGP) in gastrointestinal stromal tumors (GIST) (DGHO 2024)

55% (42/77) of liquid samples with a KIT -driver mutation had a co-occurring imatinib-resistant alteration, and a minority of cases harbored non- KIT mechanisms of resistance such as FGFR2 fusion, BRAF or EGFR alterations... Known driver and TKI-resistant mutations are identified in liquid biopsies of patients with GIST, with high concordance to tissue in the presence of elevated TF. Liquid biopsy may be valuable in the molecular classification of GIST during the medical management of advanced disease.

1 month ago

Clinical • Stroma

EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1)

KIT mutation • FGFR2 mutation • FGFR2 fusion • NF1 mutation • KIT exon 13 mutation • KIT exon 17 mutation

FoundationOne® CDx • FoundationOne® Liquid CDx

imatinib

Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series. (PubMed, J Child Neurol)

Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.

1 month ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

Molecular markers for pediatric low-grade glioma. (PubMed, Childs Nerv Syst)

Accordingly, comprehensive molecular profiling-specifically genetic sequencing, often plus copy number profiling-has become critical for guiding the diagnosis and management of PLGG. In this review, we discuss the most important genetic alterations that inform on classification and prognosis of PLGG, highlighting their diagnostic and therapeutic relevance.

1 month ago

Journal

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler)

BRAF mutation • NF1 mutation • FGFR1 fusion

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches. (PubMed, J Mol Neurosci)

Furthermore, to directly visualize the impact of these mutations on protein structure, we utilized AlphaFold3 to simulate both the wild-type and mutant NF1 structures, revealing the significant effects of the R1000C mutation on the protein's conformation. In conclusion, the identification of these mutations can play a pivotal role in advancing the field of precision medicine and aid in the development of effective drugs for associated diseases.

1 month ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

Identifying Novel Genetic Markers in Pediatric Rhabdomyosarcoma. (PubMed, J Pediatr Surg)

In patients with at least one mutation in BCOR, NF1, TP53, KRAS, HRAS, or CTNNB1, later age of onset is associated with poorer prognosis. In patients with mutations only in tumor suppressor genes BCOR or NF1, later age of onset is associated with poorer prognosis.

1 month ago

Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1) • FGFR4 (Fibroblast growth factor receptor 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • BCOR (BCL6 Corepressor)

TP53 mutation • KRAS mutation • NRAS mutation • NF1 mutation • HRAS mutation • BCOR mutation

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling. (PubMed, NPJ Breast Cancer)

Additional WES on 42 samples with relatively large clone size (VAF > 3%) confirmed that these cell clones harbored multiple mutations (10.7 mutations/sample), and the number of existing mutations was consistent with the clone size (R = 0.50). The results suggest that clonal changes occur in normal breast tissue of women at high risk for breast cancer even before cancer is detected pathologically and/or radiologically, and the clonality score shows the potential to be a valid method of evaluating clonal expansion for cancer-risk assessment that provides appropriate preventive options for patients at high risk for breast cancer.

1 month ago

Journal • BRCA Biomarker

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1) • BRCA (Breast cancer early onset)

PIK3CA mutation • NF1 mutation • HRAS mutation • BRCA mutation

2ms

Circulating tumor DNA predicts venous thromboembolism in patients with cancers. (PubMed, J Thromb Haemost)

CtDNA testing may serve as an adjunctive tool to clinical risk assessment models in cancer patients to improve personalized VTE risk assessment and management.

2 months ago

Journal • Circulating tumor DNA

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1)

KRAS mutation • EGFR mutation • PTEN mutation • NF1 mutation

2ms

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma. (PubMed, J Pers Med)

We also identified 11 putative actionable mutations including NF1 Q1798*, Q2616*, and S636X, ALK F1174L and R1275Q, SETD2 P10L and Q1829E, BRCA1 R612S, NOTCH1 D1670V, ATR S1372L, and FGFR1 N577K. Our findings provide a comprehensive overview of the novel information relevant to the underlying molecular pathogenesis and therapeutic targets of neuroblastoma.

2 months ago

Journal • BRCA Biomarker

ALK (Anaplastic lymphoma kinase) • BRCA1 (Breast cancer 1, early onset) • FGFR1 (Fibroblast growth factor receptor 1) • NOTCH1 (Notch 1) • NF1 (Neurofibromin 1) • MUC16 (Mucin 16, Cell Surface Associated) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • MUC4 (Mucin 4, Cell Surface Associated) • CTNND1 (Catenin Delta 1)

NF1 mutation • MUC16 mutation • ALK R1275Q

2ms

Cold Atmospheric Plasma Induces Growth Arrest and Apoptosis in Neurofibromatosis Type 1-Associated Peripheral Nerve Sheath Tumor Cells. (PubMed, Biomedicines)

Utilizing established mouse and human cell lines to interrogate the effects of CAP in both in vitro and in vivo settings, we found that NF1-associated PNSTs were highly sensitive to CAP exposure, resulting in cell death. To our knowledge, this is the first application of CAP to NF1-associated PNSTs and provides a unique opportunity to study the complex biology of NF1-associated tumors.

2 months ago

Journal • Tumor cell

NF1 (Neurofibromin 1)

NF1 mutation

2ms

Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation. (PubMed, Stem Cell Res)

The iPSC line expresses pluripotency markers, displays a normal karyotype, and is able to differentiate into three germ layers in vitro. This iPSC line represents a valuable cell model for NF1 in humans.

2 months ago

Preclinical • Journal

MYC (V-myc avian myelocytomatosis viral oncogene homolog) • NF1 (Neurofibromin 1) • BCL2L1 (BCL2-like 1) • SOX2 • POU5F1 (POU Class 5 Homeobox 1)

NF1 mutation • MYC expression

2ms

Disulfiram/Copper With Concurrent Radiation Therapy and Temozolomide in Patients With Newly Diagnosed Glioblastoma (clinicaltrials.gov)

P1/2, N=35, Completed, Washington University School of Medicine | Active, not recruiting --> Completed | Trial completion date: Sep 2024 --> May 2024 | Trial primary completion date: Sep 2024 --> May 2024

2 months ago

Trial completion • Trial completion date • Trial primary completion date

BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1)

BRAF mutation • NF1 mutation

temozolomide

2ms

Nephrotic syndrome in a child with neurofibromatosis type 1: A case report and literature review. (PubMed, Nephrology (Carlton))

Here, we present a case of NF1 with nephrotic syndrome and further explore the association between NF1 and glomerular diseases. It also reminds clinicians that NF1 has complex and highly variable clinical manifestations and that a comprehensive workup is essential for patients.

2 months ago

Review • Journal

NF1 (Neurofibromin 1)

NF1 mutation

2ms

The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis. (PubMed, Indian J Pathol Microbiol)

Somatic NF1 mutations and co-mutations can play a critical driving force in metastatic lung adenocarcinoma and may contribute to treatment resistance. The mutational landscape of somatic NF1 mutations and co-mutations can provide new insights into the pathophysiology of metastatic lung cancer, especially those that have metastasized to the brain.

2 months ago

Journal

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1)

TP53 mutation • PTEN mutation • NF1 mutation

2ms

Improving Individualized Rhabdomyosarcoma Prognosis Predictions Using Somatic Molecular Biomarkers. (PubMed, medRxiv)

Individualized prognosis predictions may suggest alternative treatment regimens compared to traditional risk-classification schemas. Improved clinical variables and external validation are required prior to implementing these models into clinical practice.

2 months ago

Journal

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • FOXO1 (Forkhead box O1) • MYOD1 (Myogenic Differentiation 1)

TP53 mutation • NF1 mutation • CDKN2A mutation • MET mutation

2ms

Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma (clinicaltrials.gov)

P2, N=130, Recruiting, National Cancer Institute (NCI) | N=90 --> 130

2 months ago

Enrollment change

NF1 (Neurofibromin 1) • VHL (von Hippel-Lindau tumor suppressor) • SSTR (Somatostatin Receptor)

NF1 mutation • RET mutation • VHL mutation

Lutathera (lutetium Lu 177 dotatate)

2ms

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: A case series. (PubMed, J Pak Med Assoc)

It is important to determine the cause of precocious and delayed puberty in order to establish an early treatment plan, to lead a successful prognosis, and decrease complications. The case reports of two patients presenting with dichotomous pubertal variation in association with NF1 are presented.

2 months ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation • RAS mutation

2ms

Prognostic determinants in cancer survival: a multidimensional evaluation of clinical and genetic factors across 10 cancer types in the participants of Genomics England's 100,000 Genomes Project. (PubMed, Discov Oncol)

This study provides a comprehensive view of clinicopathological and genetic prognostic factors across different cancer types and draws attention to less commonly known factors which might help produce more precise prognosis and survival estimates. The results from this study contribute to the understanding of cancer disease and could be used by researchers to develop complex prognostic models, which in turn could help predict cancer prognosis more accurately and improve patient outcomes.

2 months ago

Journal • Tumor mutational burden

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • MSH6 (MutS homolog 6) • RNF43 (Ring Finger Protein 43) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CDH1 (Cadherin 1) • FANCE (FA Complementation Group E) • GATA3 (GATA binding protein 3)

TP53 mutation • BRAF mutation • NRAS mutation • PIK3CA mutation • PTEN mutation • NF1 mutation • RNF43 mutation

2ms

Interferon-Induced Transmembrane Protein 1 (IFITM1) Is Downregulated in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors. (PubMed, Int J Mol Sci)

In xenograft mice injected with MPNST cells, IFN-γ treatment successfully suppressed tumor progression with increased IFITM1 expression and decreased Ras and ERK1/2 activation in tumor tissues. Collectively, these results suggest that IFITM1 is closely involved in MPNST pathogenesis and that IFN-γ is a good candidate for the therapeutic treatment of MPNSTs in NF1.

2 months ago

Journal

NF1 (Neurofibromin 1) • IFNG (Interferon, gamma) • MAPK1 (Mitogen-activated protein kinase 1) • MAPK3 (Mitogen-Activated Protein Kinase 3)

NF1 mutation • IFNG expression • IFIT1 overexpression • NF1 overexpression

2ms

Genomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data. (PubMed, Int J Clin Oncol)

The distinct genomic profiling in Japanese patients, including lower TMB, compared to Caucasians, is associated with poorer treatment outcomes. This result underscores the need for more effective therapeutic agents.

2 months ago

Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker

BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)

BRAF V600E • MSI-H/dMMR • NRAS mutation • BRAF V600 • BRAF V600K • NF1 mutation • SF3B1 mutation • GNA11 mutation • BAP1 mutation • NRAS G13

2ms

Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1. (PubMed, Pediatr Dermatol)

However, both were found to carry different de novo mutations in the NF1 gene. This possibility has significant implications for the diagnostic process and genetic counseling.

2 months ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

2ms

Plexiform Neurofibroma: A Case Report. (PubMed, Cureus)

Comprehensive care, including psychological support and long-term monitoring, is essential for enhancing the quality of life of NF1 patients. By adopting a proactive and holistic approach, healthcare providers can better assist patients in managing this complex condition.

2 months ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

4ms

Molecular profiling and matched targeted therapy for patients with advanced melanoma: Results from part I of the MatchMEL study (ESMO 2024)

Preliminary results of the MatchMel study revealed a variety of molecular mutations in WT melanoma pts. NF1 alterations appeared to be linked with Hi-TMB, which was associated with response to immunotherapy.

4 months ago

Clinical • Tumor mutational burden • IO biomarker • Metastases

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)

TMB-H • BRAF mutation • NRAS mutation • BRAF wild-type • NF1 mutation • RAS wild-type • CDKN2A mutation • NRAS wild-type • MAP2K1 mutation • CDK4 mutation

FoundationOne® CDx

6ms

Testing the Use of the Combination of Selumetinib and Olaparib or Selumetinib Alone Targeted Treatment for RAS Pathway Mutant Recurrent or Persistent Ovarian and Endometrial Cancers, A ComboMATCH Treatment Trial (clinicaltrials.gov)

P2, N=165, Recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Oct 2028

6 months ago

Trial completion date

KRAS (KRAS proto-oncogene GTPase) • 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) • NF1 (Neurofibromin 1) • MAP2K2 (Mitogen-activated protein kinase kinase 2)

KRAS mutation • BRAF mutation • NRAS mutation • NF1 mutation • RAS mutation • HRAS mutation • MAP2K1 mutation

Lynparza (olaparib) • Koselugo (selumetinib)

6ms

A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia (clinicaltrials.gov)

P1/2, N=58, Recruiting, Therapeutic Advances in Childhood Leukemia Consortium | Not yet recruiting --> Recruiting

6 months ago

Enrollment open • Tumor mutational burden

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

KRAS mutation • NRAS mutation • NF1 mutation • RAS mutation

Mekinist (trametinib) • cytarabine • azacitidine • fludarabine IV

6ms

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene. (PubMed, Stem Cell Res)

The iPSC line exhibits high levels of pluripotency markers, maintains the NF1 gene mutation, and demonstrates the capacity to undergo differentiation potential in vitro into three germ layers. The iPSC line will serve as a valuable resource for investigating the underlying mechanisms and conducting drug screening related to NF1 and NF1-associated epilepsy.

6 months ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

6ms

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas. (PubMed, Hum Genome Var)

Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient's blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.

6 months ago

Journal

NF1 (Neurofibromin 1)

NF1 mutation

6ms

Utility of Clinical Next Generation Sequencing Tests in KIT/PDGFRA/SDH Wild-Type Gastrointestinal Stromal Tumors. (PubMed, Cancers (Basel))

Compared to KIT/PDGFRA-mutant GIST, limited benefit was observed with imatinib in triple-negative GIST. In depth molecular profiling can be helpful in identifying driver mutations and guiding therapy.

6 months ago

Journal • Next-generation sequencing • Stroma

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • AURKA (Aurora kinase A) • SDHC (Succinate Dehydrogenase Complex Subunit C) • SDHD (Succinate Dehydrogenase Complex Subunit D) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

TP53 mutation • BRAF V600E • BRAF V600 • NTRK3 fusion • PTEN deletion • PTEN mutation • NF1 mutation • ETV6-NTRK3 fusion • CHEK2 mutation • PDGFRA mutation • FANCA mutation • FGFR1 fusion • FANCA deletion • PDGFR wild-type

imatinib