World Journal of Oncology最新文献

{"title":"On the Origin of Abdominal Venous Leiomyosarcomas: The Role of the Sex-Hormone Drainage Pathways.","authors":"Usman Tarique, David P Cyr, Carlo Morosi, Brendan C Dickson, Giorgio Greco, Carol J Swallow, Dario Callegaro, Rebecca A Gladdy, Korosh Khalili","doi":"10.14740/wjon1884","DOIUrl":"https://doi.org/10.14740/wjon1884","url":null,"abstract":"<p><strong>Background: </strong>We hypothesized that abdominal venous leiomyosarcoma (AV-LMS) disproportionately originates in veins of the sex-hormone drainage pathway (SHDP). Our purpose was to classify the anatomical origin of AV-LMS in a large cohort using imaging and explore prognostic implications.</p><p><strong>Methods: </strong>A retrospective review of imaging of all patients presenting with abdominal non-uterine LMS at a single tertiary oncology center was performed. Inclusion criteria were a biopsy-proven LMS of non-uterine abdominal/pelvic origin with pretreatment enhanced computed tomography (CT)/magnetic resonance imaging (MRI). Patients with uterine LMS or prior radiation were excluded. LMS site of origin was assigned by one expert radiologist and indeterminate sites were reviewed with a second external expert radiologist. Locations of inferior vena cava (IVC) tumors were subclassified based on a modification of prior literature. SHDP was defined as originating from ovarian/testicular vein, distal left renal vein, adrenal vein or mid-IVC (IIA).</p><p><strong>Results: </strong>One hundred fifty-five (155) patients were included (92/152 (61%) female) with distant metastases found at presentation in 23/155 (14.8%). Most common organs of origins were veins (84/152, 55.3%), gastrointestinal (24, 15.8%), genital (11, 7.2%) and paratesticular/spermatic cord (11, 7.2%). For venous LMS, the adrenal (both sexes), mid-IVC (IVC IIA, females) and ovarian veins had the highest relative predilection for abdominal non-uterine LMS. Eighty-four (84/152, 55.3%) of tumors were SHDP. On multivariable analysis, both size and SHDP were significant predictors of distant metastases at presentation (P = 0.01), while sex, age, organ system/site and grade were not.</p><p><strong>Conclusions: </strong>For both sexes, tumors arising from SHDP constitute the majority of AV-LMS and may impart a significantly lower risk of metastatic disease at presentation. Among veins, the adrenal veins had the highest predilection for LMS.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Implications of Timing of Immunotherapy in Stage IV Non-Small Cell Lung Cancer.","authors":"Jorge Raul Vazquez-Urrutia, Max Greenberg, Junjia Zhu, Shinkichi Takamori, Takefumi Komiya","doi":"10.14740/wjon1924","DOIUrl":"https://doi.org/10.14740/wjon1924","url":null,"abstract":"<p><strong>Background: </strong>Currently, the established approach for addressing stage IV non-small cell lung cancer (NSCLC) involves combining chemotherapy with immunotherapy. However, the necessity for molecular analysis prior to commencing immunotherapy often results in a delay in its initiation following the commencement of chemotherapy. Therefore, this study aimed to study the significance of postponing immunotherapy on pertinent patient outcomes.</p><p><strong>Methods: </strong>Using the National Cancer Database (NCBD), patients diagnosed with stage IV NSCLC between 2017 and 2018 were screened. Inclusion criteria comprised those treated with multi-agent chemotherapy as the first-line therapy within 30 days of treatment, surviving beyond 2 months of diagnosis, and absence of neuroendocrine pathology. Patients were grouped among those receiving immunotherapy within 30 days of chemotherapy, immunotherapy within 31 - 60 days of chemotherapy, or chemotherapy alone. Clinical characteristics were collected and their correlation with the timing of immunotherapy was evaluated. The impact of delaying immunotherapy on overall survival (OS) was investigated using Kaplan-Meier analysis. Multivariate Cox regression analysis was employed to identify independent prognostic variables associated with OS.</p><p><strong>Results: </strong>Our cohort comprised 99,008 patients with clinical stage IV NSCLC diagnosed between 2017 and 2018, which were distributed in the three treatment groups described above. Patients receiving immunotherapy within 30 days of chemotherapy showed greater OS in contrast to both those subjected to delayed immunotherapy (hazard ratio (HR) = 0.74, 95% confidence interval (CI): 0.64 - 0.87, P = 0.0003). Subsequent multivariate regression analysis showed that postponing immunotherapy, older age, male sex, white race, non-adenocarcinoma histology, higher clinical N stage, use of radiation treatment, and presence of liver metastasis were all associated with worse OS.</p><p><strong>Conclusions: </strong>Introducing immunotherapy within the first 30 days of chemotherapy initiation significantly increases survival in patients with stage IV NSCLC.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Extremely Rare Case of Primary Malignant Melanoma of the Kidney.","authors":"Akane Onogi, Daichi Kodama, Naoki Watanabe, Takashi Ishida, Hisao Komeda, Shuji Mikami, Takuji Tanaka","doi":"10.14740/wjon1899","DOIUrl":"https://doi.org/10.14740/wjon1899","url":null,"abstract":"<p><p>Malignant melanoma (MM) is a tumor that usually occurs in the skin, but this malignant tumor can also develop in extracutaneous tissues, including urogenital tissues. In regard to MM occurring in urogenital tissues, bladder origin is common but renal primary MM is extremely rare. In the Department of Emergency and Urology at Gifu Municipal Hospital, a tumor of the right kidney was detected in a computed tomography scan to determine the cause of severe pain in the lower extremities of a 45-year-old Japanese woman. With the clinical diagnosis of renal cell carcinoma, resection of the right kidney was performed under laparoscopy. The cut surface of the tumor encapsulated by a thick fibrous capsule was dark brown, and the tumor cells with large nuclei, large nucleoli, acidophil cytoplasm, and numerous melanin granules showed papillary, solid, or alveolar growth. Immunohistochemically, the tumor cells were positive for Melan A and human melanoma black 45 (HMG45) but negative for transcription factor E3 (TFE3), transcription factor EB (TFEB), cytokeratin 7 (CK7), carbonic anhydrase 9 (CA9), and AEl/AE3. We conducted careful and detailed examinations, including an association of the patient's medical history, but there were no indications for tumors, particularly MM, in any organs. Therefore, she was ultimately diagnosed with primary kidney MM.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142356133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Simultaneous Determination of Methotrexate Concentrations in Human Plasma and Cerebrospinal Fluid Using Two-Dimensional Liquid Chromatography: Applications in Primary Central Nervous System Lymphoma.","authors":"Yan Hong Wang, Qiang He, Feng Wang, Hao Jiang, Jing Shi, Ji Ma, Yu Guo Liu","doi":"10.14740/wjon1910","DOIUrl":"https://doi.org/10.14740/wjon1910","url":null,"abstract":"<p><strong>Background: </strong>In this study, we aimed to develop a method for the simultaneous quantification of methotrexate (MTX) samples extracted from human plasma and cerebrospinal fluid (CSF), using two-dimensional liquid chromatography (2D-LC). Furthermore, we intended to verify whether intravenous mannitol could increase MTX concentration in the CSF of patients.</p><p><strong>Methods: </strong>The mobile phase of PUMP1 consisted of 10.0 mmol/L ammonium acetate and acetonitrile. PUMP2 solution consisted of an aqueous solution of 10.0 mmol/L ammonium acetate. The mobile phase of PUMP3 comprised 50.0 mmol/L ammonium acetate and acetonitrile, with a flow rate of 1.0 mL/min.</p><p><strong>Results: </strong>The developed method was successfully employed to simultaneously determine drug levels in plasma and CSF from the patients treated with MTX. CSF samples were obtained by lumbar puncture 0.5 - 2 h after starting the high-dose methotrexate (HD-MTX) infusion (over 4 h) and immediately before the intrathecal (IT) administration of MTX. Venous blood samples were drawn 4 h after the start of infusion. The calibration curve was linear, with a range of 0.07 - 2.38 µmol/L for CSF samples and a range of 0.11 - 5.51 µmol/L for plasma samples. Precision (> 95%) and accuracy (> 97%) were within the acceptance criteria for each quality control (QC) level. Inter- and intra-day accuracy and precision values met the acceptance criteria for each QC level. The correlation between MTX concentrations in the plasma and CSF was moderate (r = 0.502). No significant difference was observed in MTX concentration in CSF between patients using intravenous mannitol and those not using intravenous mannitol (P = 0.682).</p><p><strong>Conclusion: </strong>The developed method was useful for therapeutic drug monitoring of MTX and suitable for assessing the risks and benefits of chemotherapy in patients with primary central nervous system lymphoma. Intravenous mannitol did not increase MTX concentration in the CSF of patients.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting SNAI1-Mediated Colorectal Cancer Chemoresistance and Stemness by Sphingosine Kinase 2 Inhibition.","authors":"Harinarayanan Janakiraman, Zachary Gao, Yun Zhu, Jiangling Dong, Scott A Becker, Alhaji Janneh, Besim Ogretmen, E Ramsay Camp","doi":"10.14740/wjon1890","DOIUrl":"https://doi.org/10.14740/wjon1890","url":null,"abstract":"<p><strong>Background: </strong>Epithelial-to-mesenchymal transition (EMT), cancer stem cells (CSCs), and colorectal cancer (CRC) therapy resistance are closely associated. Prior reports have demonstrated that sphingosine-1-phosphate (S1P) supports stem cells and maintains the CSC phenotype. We hypothesized that the EMT inducer SNAI1 drives S1P signaling to amplify CSC self-renewal capacity and chemoresistance.</p><p><strong>Methods: </strong>CRC cell lines with or without ectopic expression of SNAI1 were used to study the role of S1P signaling as mediators of cancer stemness and 5-fluorouracil (5FU) chemoresistance. The therapeutic ability of sphingosine kinase 2 (SPHK2) was assessed using siRNA and ABC294640, a SPHK2 inhibitor. CSCs were isolated from patient-derived xenografts (PDXs) and assessed for SPHK2 and SNAI1 expression.</p><p><strong>Results: </strong>Ectopic SNAI1 expressing cell lines demonstrated elevated SPHK2 expression and increased SPHK2 promoter activity. SPHK2 inhibition with siRNA or ABC294640 ablated <i>in vitro</i> self-renewal and sensitized cells to 5FU. CSCs isolated from CRC PDXs express increased SPHK2 relative to the non-CSC population. Combination ABC294640/5FU therapy significantly inhibited tumor growth in mice and enhanced 5FU response in therapy-resistant CRC patient-derived tumor organoids (PDTOs).</p><p><strong>Conclusions: </strong>SNAI1/SPHK2 signaling mediates cancer stemness and 5FU resistance, implicating S1P as a therapeutic target for CRC. The S1P inhibitor ABC294640 holds potential as a therapeutic agent to target CSCs in therapy refractory CRC.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secondary Hemophagocytic Lymphohistiocytosis Following Dostarlimab Treatment in a Patient With Metastatic Endometrial Cancer.","authors":"Emilie Rollet, Sebastien Puigrenier, Abeer Najem, Benoit Desgrousilliers, Pierre Riviere","doi":"10.14740/wjon1917","DOIUrl":"https://doi.org/10.14740/wjon1917","url":null,"abstract":"<p><p>Immunotherapy is a rapidly expanding cancer treatment strategy. Dostarlimab is administered as the first-line treatment for metastatic endometrial cancer in combination with chemotherapy. Herein, we describe the case of a 72-year-old female patient who developed hemophagocytic lymphohistiocytosis after receiving a single dose of 500 mg of dostarlimab. The patient's clinical outcome improved after treatment with ruxolitinib and corticosteroids. Oncological treatment was resumed in combination with chemotherapy alone.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SNX4 Is Correlated With Immune Infiltration and Prognosis in Clear Cell Renal Cell Carcinoma.","authors":"Yu Meng Chai, Zhong Bao Zhou, Run Ze Liu, Yuan Shan Cui, Yong Zhang","doi":"10.14740/wjon1868","DOIUrl":"https://doi.org/10.14740/wjon1868","url":null,"abstract":"<p><strong>Background: </strong>Clear cell renal cell carcinoma (ccRCC) is known as the most common and malignant histologic subtype of renal carcinoma. Sorting nexin 4 (SNX4) plays a regulatory role in recycling from endosomes to the plasma membrane and promotes autophagosome assembly and transport, which may exert the cancerous growth and progression. This study aimed to assess the biological role of SNX4 in ccRCC and their clinical association via public biological data platforms combined with experimental verification.</p><p><strong>Methods: </strong>In our study, we analyzed the mRNA and protein expression of SNX4 in ccRCC under different clinicopathological characteristics through The Cancer Genome Atlas (TCGA), Human Protein Atlas (HPA) and Clinical Proteomic Tumor Analysis Consortium (CPTAC) databases. We used the Gene Expression Profiling Interactive Analysis (GEPIA) platform to conduct the survival analysis and figure out the immune cell infiltration level under different expression levels of SNX4 combined with Tumor Immune Estimation Resource (TIMER) database. Furthermore, we predicted competing endogenous RNA (ceRNA) regulatory network using TargetScan, miRDB, starBase and miRTarBase online databases. We totally collected six paired ccRCC tissues and adjacent tissues and applied quantitative real-time polymerase chain reaction (qRT-PCR) and western blot (WB) to detect the expression of SNX4 in the collected clinical specimens.</p><p><strong>Results: </strong>The mRNA and protein expression level of SNX4 was significantly lower in ccRCC than those in normal tissues. The results proposed that lower SNX4 was expressed in patients with higher histologic grade and in male patients. Kaplan-Meier analysis demonstrated that lower mRNA expression level of SNX4 was correlated with poorer prognosis. SNX4 had positive correlation with immune cell infiltrating levels and programmed cell death-ligand 1 (PD-L1) expression. Furthermore, we constructed the SNX4/miR-221-3p/miR-222-3p/DHRS4-AS1 axis, which may be the underlying ceRNA interaction network. Finally, we verified the reduced expression of SNX4 in ccRCC by qRT-PCR and WB.</p><p><strong>Conclusion: </strong>The expression of SNX4 in ccRCC was lower than adjacent tissues and its downregulated expression was associated with poor prognosis of ccRCC patients. SNX4 may exert critical roles in the tumorigenesis, development and migration of ccRCC via various mechanisms.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cryotherapy in the Treatment of Early-Stage Breast Cancer.","authors":"Chelsey C Ciambella, Kazuaki Takabe","doi":"10.14740/wjon1909","DOIUrl":"https://doi.org/10.14740/wjon1909","url":null,"abstract":"<p><p>Breast cancer is one of the most common malignancies, affecting millions of people worldwide annually. The treatment paradigm for early-stage breast cancer is in flux. The focus is now on opportunities to de-escalation treatment to minimize morbidity and maximize patients' quality of life. Recently, percutaneous minimally invasive ablative techniques have been explored. Early trials in small population of patients demonstrated cryoablation to be effective, safe, and well-tolerated in an outpatient setting. Subsequent surgical resection was performed and the ablation success rate was the highest if the tumor was less than 1.5 cm and with < 25% ductal carcinoma <i>in situ</i> component. ACOSOG Alliance Z1072, a phase II trial with curative intent, demonstrated 100% ablation in all tumors smaller than 1 cm and 92% success in lesions without multifocal disease and less than 2 cm in size. There are ongoing prospective clinical trials to investigate the efficacy of cryoablation without surgical excision for treatment of early-stage breast cancer. FROST (Freezing Instead of Removal Of Small Tumors) started in 2016 is ongoing, ICE3 (Cryoablation of Low Risk Small Breast Cancer) started in 2014 just released 5 years results, and COOL-IT: Cryoablation vs Lumpectomy in T1 Breast Cancers is also ongoing. These prospective trials will expand our knowledge on the safety and value of cryoablation. It is crucial to understand the indications, technical nuances, and distinctive imaging findings for cryoablation as it has potential to revolutionize standard surgical practice.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Empowerment-Led Guided Self-Help Intervention for Symptom Burden in Breast Cancer Women Treated With Ovarian Function Suppression: A Randomized Trial Protocol.","authors":"Yuan Li, Yun Yun Chen, Su Xing Wang, Zheng Yue Dai, Jia Song Cui, Yu Fei Xing, Qing Wu, Qiong Fang","doi":"10.14740/wjon1817c","DOIUrl":"https://doi.org/10.14740/wjon1817c","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.14740/wjon1817.].</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.","authors":"Hikmat Abdel-Razeq, Faris Tamimi, Baha Sharaf, Sarah M Nielsen, Brandie Heald, Kathryn E Hatchell, Edward D Esplin, Hira Bani Hani, Khansa Al-Azzam, Mais Alkyam, Rawan Mustafa, Areej Al-Atary","doi":"10.14740/wjon1919","DOIUrl":"https://doi.org/10.14740/wjon1919","url":null,"abstract":"<p><strong>Background: </strong>The availability and affordability of germline genetic testing (GGT) has resulted in a broader utilization in daily clinical practice. However, adherence to testing guidelines is low, especially among older patients, where testing is often not offered.</p><p><strong>Methods: </strong>In this study, consecutive, newly diagnosed patients with breast cancer (BC) aged ≥ 65 years and eligible for GGT, as per the National Comprehensive Cancer Network (NCCN) guidelines (version 1, 2021), were invited to participate, from March 2021 to December 2022. Patients were offered a restricted (two- or 20-gene panel), or an expanded 84-gene panel.</p><p><strong>Results: </strong>During the study period, 204 patients were enrolled. The mean (standard deviation (SD)) age at BC diagnosis was 70.5 (5.13) years, ranging 65 - 81 years. All patients were Arab and the majority were Jordanian. The majority (n = 188, 92.2%) had early-stage (stages I and II) disease. One hundred three (50.5%) patients were tested with a restricted two-gene (n = 13) or 20-gene (n = 90) panel, while the remaining 101 (49.5%) patients had an expanded 84-gene panel. Family history of close blood relative(s) with BC was the most common indication for testing (n = 110, 53.9%). Among the entire study cohort, 22 (10.8%) had pathogenic/likely pathogenic germline variants (PGVs) and another 97 (47.5%) had ≥ 1 variants of uncertain significance (VUS). PGV rates were significantly higher with the expanded panel (14.9%) compared to restricted testing (6.8%) (P = 0.032). Similarly, VUS rates were significantly higher with the expanded panel (64.4%) compared to the restricted panel (31.1%) (P < 0.001). The most prevalent genes with PGVs were <i>BRCA1/2</i> (31.3% of all PGV-positive patients), <i>CHEK2</i> (23.1%) and <i>ATM</i> (19.2%).</p><p><strong>Conclusion: </strong>GGT should not be overlooked in older BC patients, as this study demonstrates that > 10% of patients have PGVs, largely in potentially actionable genes.</p>","PeriodicalId":46797,"journal":{"name":"World Journal of Oncology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11424113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}