News - VHL mutation - LARVOL VERI

Genomic and Transcriptomic Landscape of RET Wild-Type Medullary Thyroid Cancer and Potential Use of Mitogen-Activated Protein Kinase-Targeted Therapy. (PubMed, J Am Coll Surg)

We identified molecular alterations and immune-related features that distinguish wtRET from mutRET MTC. While RET mutation drives MTC in the absence of other alterations, we showed that wtRET MTC frequently harbors MAPK pathway mutations. These findings may indicate a potential basis for MAPK-targeted therapy, possibly in combination with oncology immune-oncology agents for selected patients with wtRET MTC.

3 days ago

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

PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • RET (Ret Proto-Oncogene) • STK11 (Serine/threonine kinase 11) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1)

PD-L1 expression • KRAS mutation • TMB-H • BRAF mutation • STK11 mutation • NF1 mutation • RET mutation • VHL mutation • HRAS mutation • RET wild-type

Retevmo (selpercatinib)

Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease. (PubMed, J Neurooncol)

We recommend starting MRI imaging at the age of 12 years with examination intervals every (1-) 2 years depending on CNS involvement. Special attention should be paid to patients with truncating variants. Affected families should be educated regularly on potential tumor-associated symptoms to enable timely MRI imaging and eventually intervention, as CNS hemangioblastoma may develop before screening begins.

4 days ago

Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

24d

VHL mutation drives human clear cell renal cell carcinoma progression through PI3K/AKT-dependent cholesteryl ester accumulation. (PubMed, EBioMedicine)

Collectively, our study improves current understanding of the role of CE accumulation in ccRCC and opens up new opportunities for treatment.

24 days ago

Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

25d

Analysis of Factors Contributing to Adverse Events and Evaluation of Their Impact on Prognosis in Metastatic Renal Cell Carcinoma Patients-Real-World Experience in a Single-Center Retrospective Study and Narrative Review. (PubMed, Medicina (Kaunas))

The factors described make it possible to predict the incidence of AEs, which allows for faster detection and easier management, especially in the high-risk group. AEs should be reported in detail in real-world studies, as their occurrence has a significant impact on prognosis.

25 days ago

Retrospective data • Review • Journal • Adverse events • Real-world evidence • Real-world • Metastases

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

Cabometyx (cabozantinib tablet)

Mice with renal-specific alterations of stem cell-associated signaling develop symptoms of chronic kidney disease but surprisingly no tumors. (PubMed, PLoS One)

Surprisingly, we observed symptoms of chronic kidney disease (CKD) in mutant mice, but no increased proliferation and tumorigenesis. Thus, the responses of kidney stem cells in the tubuloid and genetic systems produced different phenotypes, i.e. enhanced renewal versus CKD.

1 month ago

Preclinical • Journal

CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PAX8 (Paired box 8)

VHL mutation

Preclinical Characterization of DPI-4452: A 68Ga/177Lu Theranostic Ligand for Carbonic Anhydrase IX. (PubMed, J Nucl Med)

[177Lu]Lu-DPI-4452 demonstrated strong tumor growth inhibition in 2 xenograft mouse models. Thus, the 2 agents potentially provide a theranostic approach for selecting and treating patients with CAIX-expressing tumors such as ccRCC, CRC, and pancreatic ductal adenocarcinoma.

1 month ago

Preclinical • Journal

VHL (von Hippel-Lindau tumor suppressor) • CA9 (Carbonic anhydrase 9)

VHL mutation • CA9 overexpression • CA9 expression

Debio 0228

Genetically driven predisposition leads to an unusually genomic unstable renal cell carcinoma. (PubMed, Discov Oncol)

While BRCA1 and RAD51 germline mutations are well-characterised in breast and ovarian cancer, their role in renal cell carcinoma is still largely unexplored. The genomic instability detected in this case of renal cell carcinoma, along with the presence of unusual mutations, might offer support to clinicians for the development of patient-tailored therapies.

1 month ago

Journal • Tumor mutational burden • BRCA Biomarker

TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • VHL (von Hippel-Lindau tumor suppressor) • RAD51 (RAD51 Homolog A) • FH (Fumarate Hydratase) • FLCN (Folliculin)

BRCA1 mutation • TMB-H • VHL mutation • MET mutation • FLCN mutation • RAD51 mutation

DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies (clinicaltrials.gov)

P1, N=40, Active, not recruiting, Novartis Pharmaceuticals | Trial completion date: Jul 2025 --> Feb 2025 | Trial primary completion date: Jul 2025 --> Feb 2025

1 month ago

Trial completion date • Trial primary completion date • Combination therapy • IO biomarker • Metastases • Immuno-oncology

VHL (von Hippel-Lindau tumor suppressor) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • EPAS1 (Endothelial PAS domain protein 1) • SDHC (Succinate Dehydrogenase Complex Subunit C) • SDHD (Succinate Dehydrogenase Complex Subunit D) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) • SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2)

VHL mutation • SDHB mutation

everolimus • spartalizumab (PDR001) • DFF332 • taminadenant (NIR178)

A Study of HC-7366 in Combination With Belzutifan (WELIREG™) in Patients With Renal Cell Carcinoma (clinicaltrials.gov)

P1, N=80, Recruiting, HiberCell, Inc. | Not yet recruiting --> Recruiting

1 month ago

Enrollment open • Combination therapy • Metastases

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

Welireg (belzutifan) • HC-7366

2ms

NF2 mutations are enriched in FH deficient renal cell cancer (AACR 2024)

NF2 mutations have been identified in a variety of morphologic types of Renal cell cancer. However, we were surprised by the number of cases with NF2 mutation in tumors that also harbor the FH (HLRCC) mutation. NF2 tumors have been reported to have an aggressive behavior, and FH cancers are also known to have poor survival.

2 months ago

NF2 (Neurofibromin 2) • B2M (Beta-2-microglobulin) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • ARID1B (AT-Rich Interaction Domain 1B) • EP300 (E1A binding protein p300) • BCORL1 (BCL6 Corepressor Like 1)

VHL mutation • NF2 mutation

TruSight Oncology 500 Assay

2ms

DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection. (PubMed, Biochim Biophys Acta Mol Basis Dis)

Our results strongly suggest that ApolloN246I and ApolloY273H are loss-of-function mutants that cause impaired telomere integrity and could lead to genomic instability. Altogether, our results suggest that mutations in Apollo could induce renal oncogenesis.

2 months ago

Journal

FLCN (Folliculin) • TERF2 (Telomeric Repeat Binding Factor 2)

VHL mutation • MET mutation

2ms

A novel peptide PDHK1-241aa encoded by circPDHK1 promotes ccRCC progression via interacting with PPP1CA to inhibit AKT dephosphorylation and activate the AKT-mTOR signaling pathway. (PubMed, Mol Cancer)

Our data indicated that circPDHK1-encoded PDHK1-241aa promotes ccRCC progression by interacting with PPP1CA to inhibit AKT dephosphorylation. This study provides novel insights into the multiplicity of circRNAs and highlights the potential use of circPDHK1 or PDHK1-241aa as a therapeutic target for ccRCC.

2 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1) • PDK1 (Pyruvate Dehydrogenase Kinase 1) • PPP1CA (Protein Phosphatase 1 Catalytic Subunit Alpha)

VHL mutation

dactinomycin

2ms

Belzutifan, HIF-2α Inhibitor, and Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-of-Function Mutation. (PubMed, J Investig Med High Impact Case Rep)

Despite both patients experiencing a pulmonary crisis with respiratory compromise, their rapid response to belzutifan further emphasizes its potential utility in cases involving pulmonary or visceral crises. This report contributes valuable insights into the treatment landscape for advanced ccRCC with somatic VHL mutations.

2 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1)

VHL mutation

Welireg (belzutifan)

3ms

Novel Approaches with HIF-2α Targeted Therapies in Metastatic Renal Cell Carcinoma. (PubMed, Cancers (Basel))

In this review, we discuss the potential resistance mechanisms with belzutifan and current clinical trials evaluating novel combinations of belzutifan with other targeted therapies and immune checkpoint inhibitors which may enhance the efficacy of HIF-2α targeting. Lastly, we also discuss newer generation HIF-2α inhibitors that are currently under early investigation and outline future directions and challenges with HIF-2α inhibitors for mRCC.

3 months ago

Review • Journal • IO biomarker • Metastases

VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1)

VHL mutation

Welireg (belzutifan)

3ms

Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients. (PubMed, Mol Clin Oncol)

The aim of the present study was to determine the cytotoxic effect of BAY-876 and NaSH alone or in combination with sunitinib against the 786-O cell line (renal adenocarcinoma)...Furthermore, direct sequencing results demonstrated unrecorded mutations of VHL and KDR genes is 43.7 and 31.5% of cases respectively. These findings confirmed the leading role of VHL gene in development of ccRCC and the crucial role of KDR gene in angiogenesis and drug resistance.

3 months ago

Journal

KDR (Kinase insert domain receptor) • VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

Sutent (sunitinib)

3ms

Bilateral pheochromocytomas: clinical presentation and morbidity rate related to surgery technique and genetic status. (PubMed, Endocr Connect)

Bilateral PHEOs are usually associated with genetic syndromes. The surgical technique for patients with hereditary bilateral PHEOs should be chosen based on a personalized approach, as they are at higher risk for developing new adrenal tumors requiring additional surgeries.

3 months ago

Journal • Surgery

RET (Ret Proto-Oncogene)

RET mutation • VHL mutation

3ms

VHL-dependence of EHHADH Expression in a Human Renal Cell Carcinoma Cell Line. (PubMed, J Kidney Cancer VHL)

These results indicate that the downregulation of EHHADH in ccRCC reported may be due to the loss of VHL function. This study is the first to molecularly characterize EHHADH, a key enzyme in peroxisomal ß-oxidation, in relation to VHL, suggesting a potential pathogenic interaction that is worthy of further investigation.

3 months ago

Preclinical • Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

3ms

A Study of HC-7366 in Combination With Belzutifan (WELIREG™) in Patients With Renal Cell Carcinoma (clinicaltrials.gov)

P1, N=80, Not yet recruiting, HiberCell, Inc.

3 months ago

New P1 trial

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

Welireg (belzutifan) • HC-7366

3ms

Utilizing a novel model of PANoptosis-related genes for enhanced prognosis and immune status prediction in kidney renal clear cell carcinoma. (PubMed, Apoptosis)

Finally, the risk model was predictive of response to immune checkpoint blockade, as well as sensitivity to sunitinib and paclitaxel. The PANoptosis-related risk model developed in this study enables accurate prognostic prediction in KIRC patients. Its associations with the tumor immune microenvironment and drug efficacy may offer potential therapeutic targets and inform clinical decisions.

3 months ago

Journal

BAP1 (BRCA1 Associated Protein 1) • CD4 (CD4 Molecule)

BAP1 mutation • VHL mutation

paclitaxel • Sutent (sunitinib)

3ms

Chromosome 3p gene alterations as biomarkers for immunocombinations in metastatic renal cell carcinoma: A hypothesis-generating analysis. (PubMed, Pathol Res Pract)

Our data shows a possible negative predictive role of SETD2 GA for ICI-based therapy in RCC. Concomitant VHL and PBRM1 GA could act as a predictor for ICI/TKI efficacy. Our hypothesis-generating analysis highlights the need of an integrated evaluation of these genes as promising biomarkers in RCC. Further larger studies are required.

3 months ago

Journal • IO biomarker • Metastases

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • VHL (von Hippel-Lindau tumor suppressor) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • KDM5C (Lysine Demethylase 5C)

PBRM1 mutation • VHL mutation • SETD2 mutation

3ms

SAVOIR: Savolitinib vs. Sunitinib in MET-driven PRCC. (clinicaltrials.gov)

P3, N=60, Active, not recruiting, AstraZeneca | Trial completion date: Dec 2023 --> Dec 2024

3 months ago

Trial completion date • Metastases

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

Sutent (sunitinib) • Orpathys (savolitinib)

4ms

Sunitinib Treatment of VHL C162F Cells Slows Down Proliferation and Healing Ability via Downregulation of ZHX2 and Confers a Mesenchymal Phenotype. (PubMed, Cancers (Basel))

Sunitinib treatment also conferred a more mesenchymal profile to VHL-C162F cells with significant downregulation of E-cadherin and upregulation of N-cadherin, Slug and AXL. Sunitinib therapy may therefore promote disease progression in VHL-C162F patients.

4 months ago

Journal

AXL (AXL Receptor Tyrosine Kinase) • VHL (von Hippel-Lindau tumor suppressor) • CDH1 (Cadherin 1) • CDH2 (Cadherin 2) • SNAI2 (Snail Family Transcriptional Repressor 2)

VHL mutation

Sutent (sunitinib)

4ms

EPAS1-mutated paragangliomas associated with haemoglobin disorders. (PubMed, Br J Haematol)

Histological and transcriptomic characterization of EPAS1 tumours revealed increased angiogenesis and high similarities with pseudohypoxic PGLs caused by VHL gene mutations. Sickle haemoglobinopathy carriers could thus be at increased risk for developing EPAS1-PGLs, which should be taken into account in their management and surveillance.

4 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1)

VHL mutation

4ms

Effects of Purine Metabolism-Related LINC01671 on Tumor Heterogeneity in Kidney Renal Clear Cell Carcinoma. (PubMed, Front Biosci (Landmark Ed))

LINC01671 may be a novel prognostic marker with important therapeutic value for KIRC.

4 months ago

Journal

TP53 (Tumor protein P53) • PBRM1 (Polybromo 1) • CHD4 (Chromodomain Helicase DNA Binding Protein 4) • XIRP2 (Xin Actin Binding Repeat Containing 2) • ABCC6 (ATP Binding Cassette Subfamily C Member 6) • PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin)

TP53 mutation • PBRM1 mutation • VHL mutation

4ms

SoMuKT: Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells (clinicaltrials.gov)

P=N/A, N=50, Recruiting, IRCCS San Raffaele

4 months ago

New trial

VHL mutation

4ms

PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma (clinicaltrials.gov)

P2, N=4, Completed, Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA) | Active, not recruiting --> Completed | Trial primary completion date: Nov 2023 --> Aug 2023

4 months ago

Trial completion • Trial primary completion date

VHL mutation

MK-3795

4ms

DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies (clinicaltrials.gov)

P1, N=40, Active, not recruiting, Novartis Pharmaceuticals | Recruiting --> Active, not recruiting | N=180 --> 40

4 months ago

Enrollment closed • Enrollment change • Combination therapy • IO biomarker • Metastases • Immuno-oncology

VHL mutation • SDHB mutation

everolimus • spartalizumab (PDR001) • DFF332 • taminadenant (NIR178)

4ms

HIF signaling overactivation inhibits lateral line neuromast development through Wnt in zebrafish. (PubMed, Gene)

Moreover, the support cell proliferation and the expression of Wnt target genes decreased in vhl mutants which suggests that Wnt signaling mediated the role of HIF signaling in lateral line development. Collectively, our results demonstrate that HIF signaling overactivation inhibits lateral line development in zebrafish and suggest that inhibition of HIF signaling might be a potential therapeutic method for hair cell maintenance.

4 months ago

Journal

HIF1A (Hypoxia inducible factor 1, alpha subunit) • VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1)

VHL mutation • HIF1A expression

4ms

Fanconi anemia complementation group C (FANCC) gene association with hereditary and sporadic renal tumors (RT). (ASCO-GU 2024)

Somatic and germline mutations in FANCC occur in an exceedingly small subset of clinically advanced RT but at similar rate to other cancers. RT with inactivated FANCC do not appear to have a different GA landscape from RT with wild-type FANCC. The high frequency of predicted germline status during somatic testing with FANCC alterations suggests the importance of further workup with confirmatory germline testing as it may affect counseling for other family members.

4 months ago

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

PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • DRD (DNA Repair Deficiency) • FANCC (FA Complementation Group C)

PD-L1 expression • TP53 mutation • MSI-H/dMMR • PTEN mutation • ARID1A mutation • DDR • PBRM1 mutation • VHL mutation • DRD

FoundationOne® CDx • PD-L1 IHC 22C3 pharmDx

4ms

Effect of erythropoietin-stimulating agent use on belzutifan antitumor activity in patients with VHL disease–associated renal cell carcinoma: Post hoc analysis of the LITESPARK-004 study. (ASCO-GU 2024)

In this exploratory, post-hoc analysis of LITESPARK-004, data suggests that administration of ESA did not adversely impact overall drug exposure or efficacy of belzutifan in pts with VHL disease associated RCC, CNS hemangioblastomas, and pNETs. Clinical trial information: NCT03401788.

4 months ago

Clinical • Retrospective data

EPAS1 (Endothelial PAS domain protein 1)

VHL mutation

Welireg (belzutifan)

5ms

Activation of HIF-1α/ACLY signaling axis promotes progression of clear cell renal cell carcinoma with VHL inactivation mutation (PubMed, Zhonghua Bing Li Xue Za Zhi)

VHL mutation-mediated HIF-1α overexpression in ccRCC promotes lipid synthesis and tumor progression by activating ACLY. Targeting the HIF-1α/ACLY signaling axis may provide a theoretical basis for the clinical diagnosis and treatment of ccRCC.

5 months ago

Journal

HIF1A (Hypoxia inducible factor 1, alpha subunit) • VHL (von Hippel-Lindau tumor suppressor) • ACLY (ATP Citrate Lyase)

VHL mutation • HIF1A overexpression • HIF1A expression • ACLY underexpression

5ms

Talazoparib and Avelumab in Participants With Metastatic Renal Cell Carcinoma (clinicaltrials.gov)

P2, N=19, Completed, Memorial Sloan Kettering Cancer Center | Active, not recruiting --> Completed | Trial completion date: Aug 2024 --> Dec 2023 | Trial primary completion date: Aug 2024 --> Dec 2023

5 months ago

Trial completion • Trial completion date • Trial primary completion date • Metastases

PD-L1 (Programmed death ligand 1)

VHL mutation

Bavencio (avelumab) • Talzenna (talazoparib)

5ms

Prostate Cancer Patient Stratification by Molecular Signatures in the Veterans Precision Oncology Data Commons. (PubMed, Cold Spring Harb Mol Case Stud)

Hierarchical clustering analysis revealed two subgroups containing therapeutically targetable molecular features with novel mutational signatures distinct from those reported in the Catalogue of Somatic Mutations in Cancer database. The clustering approach presented in this study can potentially be used to clinically stratify patients based on their distinct mutational profiles and identify actionable somatic mutations for precision oncology.

5 months ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1) • KMT2A (Lysine Methyltransferase 2A) • MSH6 (MutS homolog 6) • SMO (Smoothened Frizzled Class Receptor)

PTEN mutation • NOTCH1 mutation • VHL mutation • SMO mutation

5ms

EUS-guided fine needle aspiration-based clues to mistaken or uncertain identity: serous pancreatic cysts. (PubMed, HPB (Oxford))

High specificity cyst fluid biomarkers provided the most sensitive means of diagnosing SCN preoperatively. To obtain a preoperative diagnosis of SCN at the highest level of certainty, a multidisciplinary approach should be taken to inform appropriate SCN management.

5 months ago

Journal

CEACAM5 (CEA Cell Adhesion Molecule 5) • VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

5ms

The von Hippel-Lindau protein forms fibrillar amyloid assemblies that are mitigated by the anti-amyloid molecule Purpurin. (PubMed, Biochem Biophys Res Commun)

Accordingly, we demonstrated in vitro that Purpurin is a potent inhibitor of pVHL fibrillation. The amyloidogenic behavior of wild-type pVHL and its inhibition provide novel insights into the molecular underpinning of the VHL syndrome and its possible treatment.

5 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

5ms

A nonsense mutation in VHL causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease. (PubMed, Int J Neurosci)

This mutation is absent from most public databases, and functional prediction bioinformatic tools demonstrated that this residue is conserved and that this variant is highly likely to be deleterious. The c.315G > A nonsense mutation in VHL is the causal mutation of this kindred that may lead to clear familial aggregation of VHL syndrome because of the dysfunction of the truncated pVHL.

5 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

5ms

Clinicopathological and molecular features of renal cell carcinomas with haemangioblastoma-like features distinct from clear cell renal cell carcinoma. (PubMed, Histopathology)

The histopathological, immunohistochemical, and molecular findings suggest that RCC with haemangioblastoma-like features is a distinct entity from CCRCC.

5 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor) • CA9 (Carbonic anhydrase 9) • KRT7 (Keratin-7)

VHL mutation

5ms

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries. (PubMed, J Med Genet)

Consequently, this work has allowed the diagnosis and influenced the genetic counselling of 45 VHL-suspected families and can benefit to the worldwide VHL community, through this review.

5 months ago

Journal

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

5ms

Usage of DECT Features and Radiomics for Management of Renal Lesions in Patients with Von Hippel-Lindau (RSNA 2023)

Quantitative iodine parameters of renal lesions derived from the venous phase of DECT studies show potential in predicting the growth of ccRCC lesions and guiding clinical decision-making in patients with VHL. *Clinical Relevance/Application: Predicting ccRCC lesion growth in patients with VHL improves care quality, prioritizes monitoring for rapidly growing lesions, and helps minimize unnecessary radiation exposure for slower-growing ones.

5 months ago

Clinical

VHL (von Hippel-Lindau tumor suppressor)

VHL mutation

6ms

Belzutifan for von Hippel-Lindau disease-related central nervous system (CNS) hemangioblastomas: subgroup of phase 2 LITESPARK-004 study (SNO 2023)

Reused with permission. This abstract was accepted and previously presented at the 2023 ASCO Annual Meeting.

6 months ago

P2 data

EPAS1 (Endothelial PAS domain protein 1)

VHL mutation

Welireg (belzutifan)

6ms

A hypothesis generating analysis of the role of chromosome 3p-related genes as predictors for immunocombinations in metastatic renal cell carcinoma (mRCC) (EMUC 2023)

Our hypothesis-generating data highlights the need of an integrated evaluation of 3p-related genes as promising biomarkers in RCC. Further and wider studies are required.

6 months ago

IO biomarker • Metastases

PBRM1 mutation • VHL mutation • SETD2 mutation