Xuan Yu, Yanlong Yang, Xiaobo Chen, Sinuo Song, Xinghe Tong, Xudong Yang
{"title":"Effects of primary tumor location in the basal segment or superior segment (S6) on patient survival in lung cancer: a meta-analysis.","authors":"Xuan Yu, Yanlong Yang, Xiaobo Chen, Sinuo Song, Xinghe Tong, Xudong Yang","doi":"10.1186/s12957-025-03945-5","DOIUrl":"10.1186/s12957-025-03945-5","url":null,"abstract":"<p><strong>Background: </strong>Among the key factors influencing the prognosis of lung cancer, the primary tumor site has garnered significant attention in recent years, as it may affect the surgical difficulty and the risk of lymph node metastasis, thereby impacting overall prognosis. Numerous retrospective studies have produced conflicting conclusions, highlighting the necessity for a meta-analysis to consolidate these findings and ascertain the effects of primary tumor location in the basal versus superior segment of the lower lobe(S6) on survival outcomes.</p><p><strong>Methods: </strong>We conducted a comprehensive literature search up to January 2025 and identified six relevant retrospective studies. We then used the random-effects model in Stata software to perform a meta-analysis to evaluate the impact of the primary tumor location on overall survival(OS) and event-free survival(EFS), EFS was defined as an aggregate of freedom from recurrence (FFR), disease-free survival (DFS), and progression-free survival (RFS).</p><p><strong>Result: </strong>This study demonstrated that there were no statistically significant differences in OS (S6 vs. Basal segment HR = 1.40, 95% CI: 0.81,2.42 I²=71.8%) and EFS(S6 vs. Basal segment HR = 1.32, 95% CI: 0.69,2.54, I²=76.6%) between patients with the tumor in the S6 segment or basal segment. Begg's test did not find publication bias (p > 0.05). Subgroup analysis indicated that the year of publication, clinical stage, sample size, and both univariate and multivariate analyses did not significantly influence the results.</p><p><strong>Conclusion: </strong>The direct impact of tumor location (S6 vs. Basal segment)on survival is not statistically significant.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"309"},"PeriodicalIF":2.5,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144761553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shunxian Zhou, Huan Yin, Lei Yan, Nian Xie, Chun Fu
{"title":"ctDNA methylation profiling reveals NBL1 as a promising biomarker for early ovarian cancer screening.","authors":"Shunxian Zhou, Huan Yin, Lei Yan, Nian Xie, Chun Fu","doi":"10.1186/s12957-025-03957-1","DOIUrl":"10.1186/s12957-025-03957-1","url":null,"abstract":"<p><strong>Background: </strong>Early detection of epithelial ovarian cancer (EOC) is crucial for improving patient survival. Current screening methods have limitations, highlighting the need for novel biomarkers. Circulating tumor DNA (ctDNA) methylation analysis offers a promising approach.</p><p><strong>Methods: </strong>This study included 10 patients with EOC and 10 patients with benign pelvic masses. We collected plasma samples from these patients and isolated ctDNA. We then conducted whole-genome methylation sequencing using the TAPS (TET-assisted pyridine borane sequencing) method, which allows for single-base resolution detection of 5-methylcytosine and 5-hydroxymethylcytosine. Bioinformatics analysis was performed to identify differentially methylated genes and regions. We further validated candidate biomarkers using bisulfite sequencing, qRT-PCR, and IHC. TCGA methylation data were analyzed for external validation.</p><p><strong>Results: </strong>We identified 35 differentially methylated genes, with NBL1 and CASZ1 as potential candidates. NBL1 gene hypermethylation in EOC patients was significantly associated with reduced mRNA expression, suggesting its role as a tumor suppressor gene. CASZ1 methylation patterns were inconsistent between blood and tissue, indicating limited utility as a diagnostic biomarker. We also observed widespread hypo-methylation across the genome and hyper-methylation in specific regions of differential methylation. GO and KEGG pathway enrichment analyses revealed that the differentially methylated genes were involved in various biological processes and pathways relevant to cancer pathogenesis. There is a significant negative correlation between the methylation level and the mRNA level of the NBL1 gene, suggesting that hypermethylation of the NBL1 gene may be associated with a reduction in its expression. Furthermore, immunohistochemical analysis indicates a downregulation of NBL1 expression in ovarian cancer tissues, which contrasts with the strong positive expression observed in benign tissues.</p><p><strong>Conclusion: </strong>Our study demonstrates the potential of ctDNA methylation analysis for early EOC detection. we propose that NBL1 gene hold potential as screening biomarkers for ovarian cancer.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"305"},"PeriodicalIF":2.5,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12302688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144733468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yinghong Li, Mingjie Tang, Jun Shao, Shiwei Li, Yuhao Teng, Yuanyuan Xu, Peng Shu
{"title":"Global, regional, and national burden and trends of prostate cancer in elderly from 1990 to 2021: results from global burden of disease 2021.","authors":"Yinghong Li, Mingjie Tang, Jun Shao, Shiwei Li, Yuhao Teng, Yuanyuan Xu, Peng Shu","doi":"10.1186/s12957-025-03937-5","DOIUrl":"10.1186/s12957-025-03937-5","url":null,"abstract":"<p><strong>Background: </strong>Emerging evidence has demonstrated marked geographical and demographic variations in prostate cancer (PC) incidence and mortality rates. As PC predominantly affects the elderly, in-depth analysis of disease trends in this vulnerable population is imperative.</p><p><strong>Methods: </strong>This study leveraged data from the Global Burden of Disease Study (GBD) 2021 to systematically evaluate temporal trends in the incidence, mortality, and Disability-Adjusted Life Years (DALYs) of PC in elderly aged 70 and above. The analyses were stratified by age group, geographic region, and Socio-demographic Index (SDI) quintiles. Furthermore, this study employed a comprehensive analytical approach, including estimated annual percentage change (EAPC), decomposition analysis, and predictive modeling (Nordpred method).</p><p><strong>Results: </strong>From 1990 to 2021, the burden of PC in elderly exhibited a substantial rise, with incident cases, mortality cases, and DALYs all demonstrating significant increases. In 2021, the global age-standardized rates for incidence (ASIR), mortality (ASMR), and DALYs (ASDALYR) were 348.8 (95% uncertainty interval [UI]: 310.75 to 375.79), 177.93 (95% UI: 152.84 to 194.06) and 2513.84 (95% UI: 2170.81 to 2749.77) per 100,100, respectively. Geographically, the highest persistent burden was observed in High Income North America, Australasia, and high SDI region. Most regions were positively correlated with the SDI. The highest incidences of PC in elderly were in the 95 + age group. Decomposition analysis showed that the increase in burden indicators of PC in elderly globally and in the five SDI regions was mainly caused by population growth. Nordpred analysis predicts slight decline in ASIR, ASMR, and ASDALYR by 2046.</p><p><strong>Conclusion: </strong>Our analysis unveils a considerable and relentlessly escalating global PC burden among the elderly, with striking geographical heterogeneity. These data underscore the pressing need for tailored public health strategies to mitigate the burgeoning impact of PC in the worldwide aging populace.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"303"},"PeriodicalIF":2.5,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12297840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"HER2 mutations in pulmonary adenocarcinoma presenting with ground-glass nodules.","authors":"Jiacheng Yin, Shuhua Huo, Zhencong Chen, Yu Shi, Qihai Sui, Qun Wang, Jiangjiang Xu, Wei Jiang","doi":"10.1186/s12957-025-03955-3","DOIUrl":"10.1186/s12957-025-03955-3","url":null,"abstract":"<p><strong>Background: </strong>Human epidermal growth factor receptor 2 (HER2) mutations have been identified as oncogenic drivers and therapeutic targets in Non-small cell lung cancers (NSCLCs). The role of HER2 mutation in lung adenocarcinoma presented as sub-solid nodules (SSNs) have not been distinctly defined. This study comprehensively investigated the clinicopathological characteristics of HER2 mutation in patients with pulmonary SSNs.</p><p><strong>Methods: </strong>In total, 717 patients with completely resected NSCLCs presented as SSNs were examined for HER2 mutation from January 2016 to December 2018. Age, sex, smoking history, radiologic features, operative procedure, pleural invasion, histologic subtypes and tumor-node-metastasis stage were collected. Kaplan-Meier method was used to estimate DFS, Log-rank test was used to compare the survival data. Logistic regression model was used to identify the predictors for HER2 mutation and the predictive nomogram was built.</p><p><strong>Results: </strong>In this study, 47(6.6%) SSNs carried HER2 mutations. HER2 mutations were more frequent in subjects with younger age (P < 0.001) and smaller tumor size (P < 0.001), and were prone to occur in AIS and MIA (P < 0.001). The 5- year DFS rates for HER2 mutation and HER2 wild-type groups were similar (P = 0.509). According to the logistic regression analysis, age and maximum tumor size were independent variables correlated with HER2 mutation. A predictive nomogram model was constructed with a concordance statistic of 0.79 (0.71-0.87).</p><p><strong>Conclusions: </strong>HER2 mutation was not uncommon in pulmonary SSNs. Younger age and smaller tumor size were associated with increased odds of HER2 mutation.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"304"},"PeriodicalIF":2.5,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12297846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dandan Lin, Huling Li, Xing Feng, Yang Zhang, Dandan Tang, Kai Wang
{"title":"A SEER-based prognostic nomogram for early-stage (pT1-2N0M0) tongue squamous cell carcinoma and an observational analysis of postoperative radiotherapy.","authors":"Dandan Lin, Huling Li, Xing Feng, Yang Zhang, Dandan Tang, Kai Wang","doi":"10.1186/s12957-025-03883-2","DOIUrl":"10.1186/s12957-025-03883-2","url":null,"abstract":"<p><strong>Background: </strong>To develop a nomogram for predicting overall survival (OS) and cancer-specific survival (CSS) in patients with postoperative early-stage (pT1-2N0M0) tongue squamous cell carcinoma (TSCC), and to explore the association between postoperative radiotherapy (PORT) and patient survival.</p><p><strong>Methods: </strong>Data from 7,637 patients with pT1-2N0M0 TSCC who underwent surgery between 2000 and 2021 were extracted from the SEER database. Patients were randomly divided into a training cohort and a validation cohort in a 2:1 ratio. Prognostic factors were identified via Kaplan-Meier analysis and Cox regression, and a nomogram was constructed. To minimize confounding, propensity score matching (PSM) was used to compare outcomes between patients who received PORT and those who did not. Subgroup and interaction analyses were performed to assess potential effect modifiers.</p><p><strong>Results: </strong>Of the 7,637 patients included, 1,336 (17.5%) received PORT. Multivariate Cox analysis identified age, race, marital status, grade, tumor size, lymph node (LN) removed status, and PORT as independent prognostic factors for OS and CSS. The nomogram demonstrated strong predictive performance based on time-dependent ROC curves, concordance indices, calibration plots, and decision curve analyses in both training and validation cohorts. After PSM, PORT remained associated with worse OS and CSS. Subgroup analyses revealed that the association between PORT and poorer OS was most evident in younger patients, married individuals, T1 stage patients, those with smaller tumors, and those without LN removal, with racial disparities also observed. For CSS, this association was more pronounced in married individuals, well-differentiated patients, T1 stage patients, those with smaller tumors, and those without LN removal.</p><p><strong>Conclusion: </strong>The SEER-based nomogram provides survival predictions for postoperative pT1-2N0M0 TSCC patients. Although PORT was associated with worse survival in several subgroups, findings should be cautiously interpreted given the observational design and absence of key clinical variables (PNI, LVI, surgical margins). Prospective studies incorporating comprehensive clinicopathological data are warranted to confirm associations and guide individualized PORT decisions in early-stage TSCC patients.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"302"},"PeriodicalIF":2.5,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Characteristics and prognosis of skip lymph node metastasis in gastric cancer: a retrospective study.","authors":"Kuang-Hua Lo, Kuo-Hung Huang, Wen-Liang Fang, Shih-Chieh Lin, Yi-Ping Hung, Ming-Huang Chen, Chew-Wen Wu, Ching-Yun Kung","doi":"10.1186/s12957-025-03951-7","DOIUrl":"10.1186/s12957-025-03951-7","url":null,"abstract":"<p><strong>Background: </strong>Lymph node dissection is a standardized procedure in gastric cancer surgery. Typically, lymph node metastasis begins in the perigastric (PG) region and then extends to the extraperigastric (EP) region. However, in some circumstances, skip lymph node metastasis occurs in the EP region without involvement of the PG lymph nodes. This study aims to investigate the clinical significance of skip lymph node metastasis in gastric cancer.</p><p><strong>Methods: </strong>A total of 1,055 patients who underwent curative gastrectomy for primary gastric cancer with pathological lymph node metastasis were analyzed. Patients were categorized into three groups: the PG-only group, the PG + EP group, and the skip group. The clinicopathologic characteristics and prognosis were analyzed.</p><p><strong>Results: </strong>The incidence of skip lymph node metastasis was 3.9% (41 of 1,055 patients). The skip group had a higher proportion of females compared to both the PG-only group (43.9% vs. 27.5%, p = 0.025) and the PG + EP group (43.9% vs. 26.5%, p = 0.017). Additionally, the skip group showed a higher proportion of intestinal-type tumors compared to the PG-only group (68.3% vs. 50.6%, p = 0.029) and the PG + EP group (68.3% vs. 40.2%, p = 0.001). Disease-free survival and overall survival in the skip group were similar to those in the PG-only group but significantly better than those in the PG + EP group.</p><p><strong>Conclusions: </strong>Skip lymph node metastasis is uncommon, and it is associated with a higher proportion of females and intestinal-type tumors. The prognosis of the skip group was comparable to the PG-only group and significantly better than that of the PG + EP group.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"301"},"PeriodicalIF":2.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Miklos Acs, Jozef Zustin, Niklas Bogovic, Pompiliu Piso, Sebastian Blaj
{"title":"Is the tail of the pancreas always tumor-infiltrated when macroscopically affected during cytoreductive surgery? A clinicopathological study and experience from a high-volume center.","authors":"Miklos Acs, Jozef Zustin, Niklas Bogovic, Pompiliu Piso, Sebastian Blaj","doi":"10.1186/s12957-025-03954-4","DOIUrl":"10.1186/s12957-025-03954-4","url":null,"abstract":"<p><strong>Background: </strong>Distal pancreatic resection during cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is rare, with limited knowledge available. Therefore, a retrospective observational study was conducted using the data registry of a single institution to identify patients that underwent distal pancreatic resection during CRS + HIPEC.</p><p><strong>Methods: </strong>All resected pancreatic specimens were examined for invasive parenchymal tumor infiltration. Pre-, peri-, and postoperative variables and their associations were analyzed.</p><p><strong>Results: </strong>Over a period of more than a decade, 31 of 1275 patients (2.43%) underwent distal pancreatic resection as part of CRS. Infiltration of the pancreatic parenchyma was confirmed in almost one-third (29.03%) of the cases. Postoperative pancreatic fistulas occurred in 25.81% of patients (87.5% Grade B; 12.5% Grade C). The need for distal pancreatic resection was closely related to tumor burden in the left upper abdomen, with 87% of patients requiring peritonectomy of the left upper abdomen in addition to visceral resection. Pancreatic infiltration (n = 9/31) was diagnosed in 3 cases of gastric carcinoma, 2 cases of colorectal carcinoma, 2 cases of primary peritoneal carcinoma, 1 case of ovarian carcinoma, and 1 case of mucinous appendiceal carcinoma. Postoperative pancreatic fistulas were more frequently associated with primary tumors of the large intestine (87.50% vs. 30.43%; P = 0.0094), and a tendentiously longer total hospital stay was required for the \"with pancreatic fistula\" group (32.50 ± 19.93 days vs. 21.78 ± 10.14 days), with no impact on patient survival.</p><p><strong>Conclusions: </strong>Accepting a slightly increased morbidity, distal pancreatic resection is a reasonable approach to achieve complete macroscopic tumor resection. Nonetheless, our study shows that apparent tumor invasion is histologically rare in cases with favorable tumor biology, such as low-grade pseudomyxoma peritonei. Therefore, pancreatic resection should be avoided in cases of mucinous tumors to prevent fistula formation.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"300"},"PeriodicalIF":2.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jing Chen, Xian Zhou, Ke-Gui Weng, Qian-Qian Lei, Min Ying, Yong-Zhong Wu, Ying Wang, Xiao-Hua Zeng, Yan-Yan Long
{"title":"Optimizing intraoperative radiotherapy as a tumor bed boost with whole-breast irradiation in breast cancer.","authors":"Jing Chen, Xian Zhou, Ke-Gui Weng, Qian-Qian Lei, Min Ying, Yong-Zhong Wu, Ying Wang, Xiao-Hua Zeng, Yan-Yan Long","doi":"10.1186/s12957-025-03958-0","DOIUrl":"10.1186/s12957-025-03958-0","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the safety, efficacy, and optimal dosing of intraoperative radiotherapy (IORT) as a tumor bed boost in combination with whole-breast irradiation (WBI) in individuals with breast cancer in China undergoing breast-conserving surgery (BCS).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 217 female patients without metastatic disease who underwent BCS between May 2020 and December 2023 and received INTRABEAM IORT followed by postoperative WBI. Adjuvant therapies were administered as indicated. Evaluated outcomes included recurrence, disease-free survival (DFS), overall survival (OS), wound healing, and the incidence of radiodermatitis.</p><p><strong>Results: </strong>The cohort ranged in age from 20 to 67 years, with a median age of 48 years. Among them, 18 patients underwent neoadjuvant chemotherapy prior to BCS. Molecular subtypes included Luminal A (25.8%), Luminal B (33.6%), hormone receptor-negative/human epidermal growth factor receptor 2 (HER2)-positive (6.9%), hormone receptor-positive/HER2-positive (12.9%), and triple-negative (20.7%). IORT doses were 10 Gy (n = 189), > 10 to < 20 Gy (n = 9), and 20 Gy (n = 19). At a median follow-up of 20 months (range: 12-55 months), all patients were alive. Disease recurrence was observed in 2.3% (n = 5). Age younger than 45 years (p = 0.044) and tumor size exceeding 2 cm (p = 0.040) identified as independent risk factors of recurrence. The 1-year and 2-year DFS rates were 99.1% and 98.2%, respectively. Most patients (95.4%) achieved complete wound healing within four weeks. Delayed wound healing exceeding two months occurred more frequently among those who received 20 Gy (15.8%) compared to those who received 10 Gy (2.6%) or > 10 to < 20 Gy (0%) (p < 0.001).</p><p><strong>Conclusions: </strong>The combination of IORT and WBI demonstrated favorable safety and efficacy profiles in individuals with breast cancer in China undergoing BCS. Younger age and tumor size > 2 cm were associated with increased recurrence risk. An IORT dose between 10 and 20 Gy (including 10 Gy), was determined to be optimal, as a 20 Gy dose was associated with increased wound complications without providing survival benefits. Further research is warranted to explore risk-stratified dosing strategies.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"298"},"PeriodicalIF":2.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Successful treatment of advanced Birt-Hogg-Dubé syndrome-associated renal cell carcinoma with sarcomatoid dedifferentiation using anlotinib combined with PD-1 inhibitor after first-line therapy failure: a case report.","authors":"Liqi Yi, Chuang Li, Danfeng Xu, Le Xu","doi":"10.1186/s12957-025-03941-9","DOIUrl":"10.1186/s12957-025-03941-9","url":null,"abstract":"<p><strong>Background: </strong>Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant inherited disease caused by germline mutations in the FLCN (folliculin) gene. It often presents as skin fibrofolliculoma, pneumothorax and renal cell carcinoma. BHD syndrome-associated renal cell carcinoma usually presents with an inert course, but some cases may be associated with sarcomatoid dedifferentiation, suggesting a higher aggressiveness and poor prognosis.</p><p><strong>Case presentation: </strong>A 66-year-old female patient presented with a left renal mass and underwent open radical left nephrectomy with lymph node dissection. Postoperative pathology confirmed the diagnosis of renal cell carcinoma with sarcomatoid dedifferentiation, classified as Stage IV pT4N0M0. Immunohistochemical analysis revealed vimentin (+), CD10 (+), and Ki67 (approximately 80% +), which aided in the diagnosis. Initial treatment with first-line targeted immunotherapy (axitinib plus toripalimab) was unsuccessful. Following treatment failure, genetic testing was performed and identified FLCN and BRCA2 mutations. Based on these findings, second-line therapy with anlotinib combined with toripalimab was initiated, demonstrating significant efficacy. Imaging assessments consistently indicated a partial response according to RECIST1.1 criteria. Additionally, olaparib was considered as a potential therapeutic option due to the BRCA2 mutation, and one cycle of olaparib was administered during the second-line treatment. At seven months post-operation, intra-abdominal metastatic lesions remained well-controlled, with no significant pulmonary metastasis. Routine monitoring of blood counts, liver and kidney function, thyroid function, myocardial enzymes, and cortisol levels revealed no significant adverse effects, underscoring the safety and efficacy of the treatment regimen.</p><p><strong>Conclusion: </strong>This case not only reveals the complexity and treatment challenges of BHD syndrome-associated renal cell carcinoma with sarcomatoid dedifferentiation but also provides an important basis for the development of individualized treatment strategies. The successful treatment of this case suggests that targeted immunotherapy may have potential advantages in refractory cases and emphasizes the important role of gene testing in guiding individualized treatment. In the future, it is necessary to further explore the molecular mechanism of BHD syndrome-associated renal cell carcinoma and sarcomatoid renal cell carcinoma and verify the efficacy of targeted immunotherapy.</p>","PeriodicalId":23856,"journal":{"name":"World Journal of Surgical Oncology","volume":"23 1","pages":"299"},"PeriodicalIF":2.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}