Oncologist最新文献

{"title":"Patient-reported continued benefits of pexidartinib for tenosynovial giant cell tumor based on a real-world study in the United States.","authors":"Dong Dai, Irene Pan, Klaus Freivogel, Xin Ye, Kristen Tecson, William Tap","doi":"10.1093/oncolo/oyaf028","DOIUrl":"10.1093/oncolo/oyaf028","url":null,"abstract":"<p><strong>Background: </strong>Pexidartinib (Turalio) is the only systemic therapy approved by the United States Food and Drug Administration for the treatment of patients with tenosynovial giant cell tumors (TGCT ) based on clinical benefits demonstrated in the Phase III ENLIVEN trial. The present study assessed longitudinal patient-reported outcomes of patients treated with pexidartinib for TGCT.</p><p><strong>Methods: </strong>A longitudinal study was conducted in adult patients who received pexidartinib via the Risk Evaluation and Mitigation Strategy in the United States. Two web-based surveys containing patient-reported outcome questionnaires were administered to eligible patients (at least 18 years of age, had taken at least 1 dose of pexidartinib before baseline survey and still on treatment with pexidartinib at the time of follow-up survey, had not participated in any clinical trials for pexidartinib, and could complete questionnaires in English). The first assessment was initiated in 2021 (baseline), and the second was completed in 2022-2023 (follow-up).</p><p><strong>Results: </strong>Of 83 eligible patients who completed baseline assessment, 45 were eligible for follow-up. Thirty-one of whom consented and 28 completed the assessment. At the time of the follow-up survey, the mean (range) treatment duration was 18.5 (10.6-36.2) months, mean (SD) age was 41.9 (13.70) years, and 67.7% of the patients were female. The most common tumor sites were in the knee (67.7%) and ankle (16.1%). At follow-up, over 85% of patients reported symptom improvement since initiation of treatment with pexidartinib, and nearly 70% of patients reported symptoms to be \"Very much improved\" or \"Much improved.\" From baseline to follow-up assessment, changes in patient-reported measures on physical function, pain, and stiffness were not statistically significant (P > .05).</p><p><strong>Conclusions: </strong>Findings from this longitudinal study showed continued benefit of pexidartinib in overall symptom improvement from patients' perspectives after an additional year of continued use among patients with symptomatic TGCT.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11957242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prophylaxis, clinical management, and monitoring of datopotamab deruxtecan-associated oral mucositis/stomatitis.","authors":"Funda Meric-Bernstam, Aditya Bardia, Paolo Bossi, Giampaolo Bianchini, Frances Gatlin, Rajesh V Lalla, Barbara Melosky, Naoki Niikura, Timothy A Yap, Sophie S Kim, Rachana Rajagopalan, Rick M Fairhurst, Stephanie L Graff, Hope S Rugo","doi":"10.1093/oncolo/oyaf031","DOIUrl":"10.1093/oncolo/oyaf031","url":null,"abstract":"<p><p>Oral mucositis/stomatitis (hereafter stomatitis) is a common dose-limiting toxicity seen with various classes of cancer treatment. Symptoms associated with stomatitis, primarily oral pain, may impact patient quality of life and may lead to dose delay and reduction or treatment discontinuation. Datopotamab deruxtecan (Dato-DXd) is a novel trophoblast cell surface antigen 2-directed antibody-drug conjugate undergoing clinical investigation in multiple solid tumor types. Stomatitis is among the most reported adverse events associated with Dato-DXd, with most cases being grades 1-2. This article reviews the incidence of stomatitis seen with Dato-DXd, including in the phase III pivotal studies TROPION-Lung01 and TROPION-Breast01 (in patients with non-small cell lung cancer and hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancer, respectively), both studies met a dual primary endpoint of statistically significant improvement in progression-free survival compared to standard-of-care chemotherapies. Developing new cancer therapies requires evidence-based strategies to successfully prevent, monitor, and manage adverse events. Accordingly, a thorough evaluation of potential underlying mechanisms, risk factors, available clinical data, and adequacy of preventive and management recommendations for stomatitis is presented here. Prophylaxis recommendations for a daily oral care plan include oral hygiene education and the use of a prophylactic steroid-containing mouthwash. Ongoing studies continue to collect data on Dato-DXd-associated stomatitis to further characterize clinical features and possible mechanisms of this toxicity. Appropriate management may reduce the incidence, duration, and severity of events, improve quality of life, and support patient adherence to treatment.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent pancreatic cancer treated with N-803 and PD-L1 t-haNK followed by an EGFR-targeted nanocell drug conjugate.","authors":"Katayoun Moini, Tara Seery, Chaitali Nangia, Jennifer MacDiarmid, Himanshu Brahmbhatt, Patricia Spilman, Lennie Sender, Patrick Soon-Shiong","doi":"10.1093/oncolo/oyae267","DOIUrl":"10.1093/oncolo/oyae267","url":null,"abstract":"<p><p>Multimodal temporal therapy orchestrated to leverage immunotherapy, tumor-targeted chemotherapy, and natural killer (NK) cell therapy may provide an opportunity to induce immunogenic cell death for tumor response and increased survival in patients with recurrent cancer. The interleukin-15 (IL-15) superagonist N-803, an enhancer of NK cells, CD4 + T cells, cytotoxic CD8 + T cells, and memory T-cell activity, combined with off-the-shelf PD-L1-targeted high-affinity NK (PD-L1 t-haNK) cells represent novel immunotherapies designed to overcome an immunosuppressive tumor microenvironment (TME). The epidermal growth factor receptor-targeted antibody-nanocell conjugate E-EDV-D682 provides tumor-targeted chemotherapy in the form of its anthracycline metabolite PNU159682 (nemorubicin) cargo and is currently being studied in combination with immunomodulatory EDVs delivering the adjuvant α-galactosyl ceramide (GC). Here, we report the compassionate use treatment of this combination in a patient with recurrent, metastatic pancreatic cancer (mPC) after 3 lines of therapy. Under the initial single-patient Investigational New Drug (spIND) protocol, the patient received N-803, PD-L1 t-haNK cells, and the albumin doxorubicin conjugate aldoxorubicin for ~27 months. The patient's disease became stable on this regimen, and a transient complete response was observed by ~14 months of therapy. Due to progression, a second spIND protocol was designed whereby the patient received E-EDV-D682 plus EDV-GC for more than 24 months, which resulted in stable disease and the patient's continued survival at the time this report was written. The patient's extended survival despite the dire prognosis associated with recurrent mPC points to the merits of this temporal combination regimen in overcoming immuno-chemo resistance with enhanced immune activity required for tumor response and extended survival.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":" ","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging innovative treatment strategies for advanced clear cell renal cell carcinoma.","authors":"Sharon H Choi, Yu-Wei Chen, Justine Panian, Kit Yuen, Rana R McKay","doi":"10.1093/oncolo/oyae276","DOIUrl":"10.1093/oncolo/oyae276","url":null,"abstract":"<p><p>Dramatic advances in biological discoveries, since the 1990s, have continued to reshape the treatment paradigm of metastatic renal cell carcinoma (RCC). Von Hippel Lindau (VHL) gene alterations are associated with pro-angiogenic activity and are central to the pathogenesis of clear cell RCC (ccRCC), the most predominant histologic subtype of RCC. Antiangiogenic strategies revolving around this VHL/HIF/VEGF axis have been shown to improve survival in metastatic ccRCC. The discovery of immune checkpoints and agents that target their inhibition introduced a new treatment paradigm for patients with RCC. While initially approved as monotherapy, studies investigating immune checkpoint inhibitor combinations have led to their approval as the new standard of care, providing durable responses and unprecedented improvements in clinical outcome. Despite these advances, the projected 14 390 deaths in 2024 from RCC underscore the need to continue efforts in expanding and optimizing treatment options for patients with metastatic RCC. This article reviews key findings that have transformed the way we understand and treat metastatic RCC, in addition to highlighting novel treatment strategies that are currently under development.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":" ","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ramucirumab and paclitaxel in second or greater lines of therapy in patients with HER2-positive gastroesophageal cancer: a single center study.","authors":"Yvonne Bach, Divya Sharma, Hiroko Aoyama, Lucy X Ma, Carly C Barron, Xin Wang, Sokaina Akhtar, Yahan Yang, Alana St Bernard, Ronan McLaughlin, Thais B C Megid, Abdul R Farooq, Eric X Chen, Raymond W J Jang, Elena Elimova","doi":"10.1093/oncolo/oyaf037","DOIUrl":"10.1093/oncolo/oyaf037","url":null,"abstract":"<p><strong>Background: </strong>Human epidermal growth factor receptor 2 (HER2) overexpression is present in approximately 20-25 of patients with advanced gastroesophageal adenocarcinoma (GEA). Upon progression on 1st line therapy, ramucirumab and paclitaxel (rampac) is given in ≥2 line setting regardless of HER2 status. We aim to assess whether ramucirumab is associated with better survival in HER2 positive(+) pts compared to those with HER2(-) disease.</p><p><strong>Methods: </strong>We reviewed all consecutive adult patients with metastatic/unresectable GEA who were treated with rampac for ≥2nd line therapy at Princess Margaret Cancer Centre from 2010 to 2021. Progression free survival (PFS) and overall survival (OS) were defined as time from starting rampac to progression or death and estimated using the Kaplan-Meier method.</p><p><strong>Results: </strong>There were 126 patients who received rampac following progression of 1st line chemotherapy, 96(76%) were male. The age at time of presentation and starting rampac was 59.0 ± 10.3 years and 59.9 ± 10.3 years, respectively. At the time of diagnosis, 32(25%) patients were HER2+. The majority of patients (n = 99;78%) received rampac in the 2L line setting compared to 28(22%) patients who received it in the 3rd/4th line setting. The median PFS and OS for HER2 + pts were 3.6 months and 9.4 months, respectively, which were similar to HER2- patients (median PFS = 3.6 months; median OS = 8.2 months). There was no statistically significant association between HER2 positivity and PFS (adjusted hazards ratio (HR) = 0.76, 95% confidence interval (CI) 0.48-1.22, P = .26), nor OS (adjusted HR = 0.88, 95% CI, 0.55-1.41, P = .59).</p><p><strong>Conclusion: </strong>Rampac remains a valid treatment option for patients who are unable to participate in trials or do not have access to further HER2-directed therapy beyond first line.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fruquintinib versus placebo in patients with refractory metastatic colorectal cancer: safety analysis of FRESCO-2.","authors":"Cathy Eng, Arvind Dasari, Sara Lonardi, Rocio Garcia-Carbonero, Elena Elez, Takayuki Yoshino, Alberto Sobrero, James Yao, Pilar Garcia-Alfonso, Judit Kocsis, Antonio Cubillo Gracian, Andrea Sartore-Bianchi, Taroh Satoh, Violaine Randrian, Jiri Tomasek, Geoff Chong, Zhao Yang, Ferdinand Guevara, William Schelman, Rajash Pallai, Josep Tabernero","doi":"10.1093/oncolo/oyae360","DOIUrl":"10.1093/oncolo/oyae360","url":null,"abstract":"<p><strong>Background: </strong>Fruquintinib is a highly selective, oral inhibitor of all 3 VEGF receptors. The global, randomized, double-blind phase 3 FRESCO-2 trial (NCT04322539) met its primary endpoint demonstrating significantly improved overall survival in patients with refractory metastatic colorectal cancer (mCRC) who received fruquintinib plus best supportive care (BSC) versus placebo plus BSC. Here we report detailed safety data from FRESCO-2 including an analysis of treatment-related adverse events of special interest (AESIs).</p><p><strong>Patients and methods: </strong>Patients with mCRC eligible for FRESCO-2 had received all standard chemotherapies and prior anti-VEGF and anti-EGFR therapies if indicated, and displayed progression on, or intolerance to, TAS-102 and/or regorafenib. Prespecified AESIs based on VEGFR tyrosine kinase inhibitor drug classes were evaluated.</p><p><strong>Results: </strong>Incidences of treatment-related AESIs were 64.9% with fruquintinib + BSC versus 23.0% with placebo + BSC. The most frequent all-grade treatment-related AESIs for fruquintinib were hypertension (28.9%; grade ≥3 10.7%), palmar-plantar erythrodysesthesia syndrome/hand-foot skin reaction (PPE 18.6%; grade ≥3 6.1%), and hypothyroidism (15.6%; grade ≥3 0.4%). Dose reductions due to treatment-related AESIs were reported in 10.3% of patients who received fruquintinib + BSC versus 0.4% with placebo + BSC. The most common treatment-related AESIs resulting in dose reduction for fruquintinib were PPE syndrome (5.0%), hypertension (2.9%), and proteinuria (1.3%). Overall, 5.9% versus 0.9% had treatment-related AESIs resulting in study drug discontinuation.</p><p><strong>Conclusion: </strong>Fruquintinib + BSC demonstrated a predictable and manageable safety profile in pretreated patients with mCRC and is a novel oral treatment option that prolongs survival and enriches the continuum of care in this population.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11957243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A pilocytic astrocytoma with novel ATG16L1::NTRK2 fusion responsive to larotrectinib: a case report with genomic and functional analysis.","authors":"Lily Deland, Simon Keane, Thomas Olsson Bontell, Tomas Sjöberg Bexelius, Inga Gudinaviciene, Esther De La Cuesta, Francesca De Luca, Jonas A Nilsson, Helena Carén, Helena Mörse, Frida Abel","doi":"10.1093/oncolo/oyae254","DOIUrl":"10.1093/oncolo/oyae254","url":null,"abstract":"<p><p>The outcome of pilocytic astrocytoma (PA) depends heavily on the success of surgery. In cases where surgery alone is not curative, genetic analysis can be used to identify treatment targets for precision medicine. Here, we report a pediatric PA case that underwent incomplete surgical resection due to the tumor location. Clinical routine analyses demonstrated that the tumor did not carry any BRAF alteration. After postoperative surveillance, according to the low-grade glioma (LGG) protocol, recurrent tumor progressions resulted in multiple chemotherapy regimens. Screening formalin-fixed paraffin-embedded tumor material using an open-ended RNA sequencing panel revealed a novel in-frame autophagy related 16 like 1-neurotrophic receptor tyrosine kinase 2 (ATG16L1::NTRK2) fusion gene. The NTRK2 rearrangement was subsequently confirmed by fluorescent in situ hybridization on tumor tissue sections. Functional validation was performed by in vitro transient transfection of HEK293 cells and showed the ATG16L1::TRKB fusion protein to activate both the mitogen-activated protein kinase pathway and the phosphoinositide 3-kinase oncogenic pathways through increased phosphorylation of extracellular signal-regulated kinase, AKT, and S6. As a result of the identification of the NTRK fusion, the patient was enrolled in a phase I/II clinical trial of the highly selective TRK inhibitor larotrectinib. The patient responded well without significant side effects, and 8 months after the start of treatment, the contrast-enhancing tumor lesions were no longer detectable, consistent with a complete response as per Response Assessment in Neuro-Oncology (RANO) criteria. Presently, after 22 months of treatment, the patient's complete remission is sustained. Our findings highlight the importance of screening for other oncogenic drivers in BRAF-negative LGGs since rare fusion genes may serve as targets for precision oncology therapy.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":" ","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142332555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in complexity of single-agent and combination therapies for solid tumor cancers approved by the US Food and Drug Administration.","authors":"Emerson Y Chen, Manoj Rai, Yash Tadikonda, Preeyam Roy, Dakota W Nollner, Akshit Chitkara, Julia Hamilton, Rajat Thawani","doi":"10.1093/oncolo/oyae302","DOIUrl":"10.1093/oncolo/oyae302","url":null,"abstract":"<p><strong>Background: </strong>Many FDA-approved cancer therapies, whether as a multiagent combination or as a single agent, have demonstrated only modest clinical benefit. To investigate the drug development landscape, this analysis focuses on whether newly approved drugs are added to existing standards as combination therapy or replace a former drug as monotherapy.</p><p><strong>Methods: </strong>A retrospective analysis of package inserts and corresponding trials for the treatment of nonhematology solid tumor malignancies from January 2011 to December 2023 was conducted to categorize an approval as monotherapy or combination therapy. Drug characteristics, treatment indications, study design, approval history, and efficacy results were compared between the 2 cohorts.</p><p><strong>Results: </strong>Among the 292 approval entries and 110 drugs, 193 (66.1%) were monotherapies and 99 (33.9%) were combinations. Combinations, when compared with monotherapies, were more frequently approved as regular than accelerated approval (85 [85.9%] vs 132 [68.4%], P <.01), in the first-line setting (66 [66.7%] vs 69 [35.8%], P <.01), and with overall survival as the criteria (49 [49.5%] vs 40 [20.7%], P <.01). Monotherapies were more likely to be novel drugs compared with combinations (80 [41.5%] vs 14 [14.1%] P <.01). Monotherapies were more likely to be small molecule targeted agents, while combinations were more likely to be immunotherapies (P <.02). There was no difference comparing the time-to-event endpoints and validated clinical benefit scale, but the median response rate of combinations (46%) was higher than monotherapies (34%, P <.01).</p><p><strong>Discussion: </strong>Given that clinical benefit appears limited in combination therapy compared with monotherapy, drug development could focus on simplifying cancer therapies toward patient-centered paradigms.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":" ","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to: Local social vulnerability as a predictor for cancer-related mortality among US counties.","authors":"Krista Y Chen, Amanda L Blackford, Ramy Sedhom, Arjun Gupta, S M Qasim Hussaini","doi":"10.1093/oncolo/oyae327","DOIUrl":"10.1093/oncolo/oyae327","url":null,"abstract":"","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Incidentally\" discovered Von Hippel Lindau disease: an emerging clinical phenotype.","authors":"Michael N Trinh, Lauren Bear, Brian V Nahed, Othon Iliopoulos","doi":"10.1093/oncolo/oyaf015","DOIUrl":"10.1093/oncolo/oyaf015","url":null,"abstract":"<p><p>Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single institution case series of 6 otherwise healthy individuals with \"incidental\" Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease-associated tumors. The penetrance and expressivity of such incidental variants are not currently known, and therefore, no surveillance guidelines exist. Nevertheless, the association of these variants historically with high disease penetrance compels us to currently recommend active surveillance of their carriers with annual imaging of the brain, spine, and abdomen.</p>","PeriodicalId":54686,"journal":{"name":"Oncologist","volume":"30 3","pages":""},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11892557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143598190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}