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Feasibility of Using Needle Rinse Fluid for Cobas Human Papillomavirus (HPV) Assay in Diagnosing HPV+ Oropharyngeal Cancer with Neck Lymph Node Aspiration. 使用 Cobas 人乳头瘤病毒 (HPV) 检测仪的针头冲洗液诊断颈淋巴结抽吸术中的 HPV+ 口咽癌的可行性。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-08-17 DOI: 10.1245/s10434-024-16058-2
Chun-Wei Chang, Po-Chang Lin, Chun-Yang Hung, Cheng-Ping Wang, Pei-Jen Lou, Shu-Yuan Ho, Ming-Shu Hsieh, Tseng-Cheng Chen

Background: Human papillomavirus (HPV) is a crucial prognostic factor in oropharyngeal cancer (OPC). p16 is a surrogate marker for diagnosing HPV+ OPC, however it is not direct evidence of HPV existence.

Objective: The purpose of our study was to evaluate an HPV DNA test-Cobas HPV assay-in diagnosing HPV+ OPC through neck lymph node aspiration.

Methods: Patients with suspected neck mass who received fine needle aspiration (FNA) or core needle biopsy (CNB) at the National Taiwan University Hospital between January 2018 and December 2022 were reviewed. Besides routine cytology and pathology study, needle rinse fluid was collected for the Cobas HPV assay to detect high-risk HPV.

Results: We analyzed 137 patients with suspected lymph nodes, 32 (23.4%) of whom were HPV+ OPC patients and 105 (76.6%) of whom had non-HPV-related disease. FNA was performed in 31 patients and CNB was performed in 106 patients, according to the size and necrosis status of the lymph nodes. For diagnosing HPV+ OPC, CNB combined with p16 immunohistochemistry staining showed sensitivity of 93.3%, specificity of 97.8%, positive predictive value (PPV) of 87.5%, negative predictive value (NPV) of 98.9%, and accuracy of 97.2%. On the other hand, for the needle rinse Roche Cobas HPV assay, the test showed sensitivity of 96.9%, specificity of 100%, PPV of 100%, NPV of 99.1%, and accuracy of 99.3%. Compared with p16 IHC staining, the Cobas HPV test showed better PPV with statistical significance (p = 0.04).

Conclusion: The Cobas HPV assay is a US FDA-approved, highly automated, and readily used technique to directly detect the presence of high-risk HPV. We recommend utilizing the Cobas HPV assay in combination with routine cytology or histopathology examination in the work-up of neck lymphadenopathy.

背景:人乳头瘤病毒(HPV)是口咽癌(OPC)的重要预后因素。P16是诊断HPV+ OPC的替代标记物,但它不是HPV存在的直接证据:我们的研究旨在评估一种 HPV DNA 检测方法--Cobas HPV 检测法--是否能通过颈部淋巴结穿刺诊断出 HPV+ OPC:回顾性分析2018年1月至2022年12月期间在台湾大学医院接受细针穿刺(FNA)或核心针活检(CNB)的疑似颈部肿块患者。除常规细胞学和病理学检查外,还收集了针头冲洗液进行Cobas HPV检测,以检测高危HPV:我们分析了137例疑似淋巴结患者,其中32例(23.4%)为HPV+ OPC患者,105例(76.6%)为非HPV相关疾病。根据淋巴结的大小和坏死情况,对 31 名患者进行了 FNA,对 106 名患者进行了 CNB。在诊断 HPV+ OPC 时,CNB 结合 p16 免疫组化染色的敏感性为 93.3%,特异性为 97.8%,阳性预测值 (PPV) 为 87.5%,阴性预测值 (NPV) 为 98.9%,准确性为 97.2%。而针头冲洗罗氏 Cobas HPV 检测法的灵敏度为 96.9%,特异性为 100%,PPV 为 100%,NPV 为 99.1%,准确率为 99.3%。与 p16 IHC 染色相比,Cobas HPV 检测的 PPV 值更高,具有统计学意义(p = 0.04):结论:Cobas HPV 检测是一种经美国 FDA 批准、高度自动化且易于使用的技术,可直接检测是否存在高危 HPV。我们建议在颈部淋巴结病的检查中结合常规细胞学或组织病理学检查使用 Cobas HPV 检测法。
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引用次数: 0
Nodal Response and Survival After Neoadjuvant Endocrine Therapy in Hormone Receptor-Positive Breast Cancer: 20-Year Experience from a Single Institution. 激素受体阳性乳腺癌新辅助内分泌治疗后的结节反应和存活率:来自单一机构的 20 年经验。
IF 4.3 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-08-17 DOI: 10.1245/s10434-024-16059-1
Selena J An, Christine Hong Ngoc Che Thai, Sherin Ismail, Chris B Agala, Van Hoang, Timothy Feeney, Margaret Lillie, Amy Wheless, Julia M Selfridge, David W Ollila, Kristalyn K Gallagher, Lisa A Carey, Philip M Spanheimer

Introduction: Axillary response to neoadjuvant endocrine therapy (NET) for the treatment of hormone receptor-positive breast cancer (HR+ BC) is not well-described. This study was designed to characterize nodal response after NET.

Methods: Patients receiving NET followed by curative intent surgery at a comprehensive cancer center from 1998 to 2022 in a prospectively collected registry were included. Patients with distant metastasis were excluded. Primary outcome was nodal pathologic complete response (pCR). Downstaging was defined as post-NET decrease in category.

Results: We included 123 patients; the majority were cT2 (n = 59) or cT3 (n = 35), and cN0 (n = 81). Median age was 70.0 years (interquartile range 62.1-76.0). Forty-two patients (34.1%) were clinically node-positive. After NET, 73 (59.8%) underwent breast-conserving surgery. All patients underwent sentinel lymph node biopsy, and 12 (9.8%) underwent completion axillary lymph node dissection. In-breast downstaging was achieved in 51 (41.5%) patients, 1 (0.8%) had breast pCR, and 14 (11.4%) had breast upstaging. Axillary downstaging was achieved in 10 (23.8%), 6 patients (14.3%) had nodal pCR, and 14 (33.3%) had axillary upstaging. At 10-year follow-up, local recurrence was 1% and distant recurrence was 14%, while disease-free survival was 82%. After adjusting for demographic and clinical factors, age was the only characteristic associated with mortality (hazard ratio 1.07, 95% confidence interval 1.01-1.13).

Conclusions: In HR+ BC treated with NET, long-term disease-free survival is good, although nodal pCR is uncommon for cN+ patients. Future studies are needed to elucidate optimal neoadjuvant systemic therapy and to delineate oncologically safe strategies to deescalate axillary management for residual microscopic disease.

简介:新辅助内分泌治疗(NET)治疗激素受体阳性乳腺癌(HR+ BC)的腋窝反应尚未得到很好的描述。本研究旨在描述NET治疗后的结节反应:方法:纳入1998年至2022年期间在一家综合癌症中心接受NET治疗并随后进行根治性手术的患者,这些患者是在一个前瞻性登记册中收集的。不包括远处转移患者。主要结果为结节病理完全反应(pCR)。下分期定义为NET后类别的减少:我们共纳入了123例患者,其中大多数为cT2(59例)或cT3(35例)和cN0(81例)。中位年龄为 70.0 岁(四分位间范围 62.1-76.0)。42名患者(34.1%)临床结节阳性。在接受 NET 治疗后,73 名患者(59.8%)接受了保乳手术。所有患者均接受了前哨淋巴结活检,12 名患者(9.8%)接受了完整的腋窝淋巴结清扫术。51例(41.5%)患者实现了乳房内下移,1例(0.8%)实现了乳房pCR,14例(11.4%)实现了乳房上移。10名患者(23.8%)实现了腋下分期,6名患者(14.3%)有结节pCR,14名患者(33.3%)有腋窝上移。在10年的随访中,局部复发率为1%,远处复发率为14%,无病生存率为82%。调整人口统计学和临床因素后,年龄是唯一与死亡率相关的特征(危险比1.07,95%置信区间1.01-1.13):结论:在接受NET治疗的HR+ BC患者中,尽管结节pCR在cN+患者中并不常见,但长期无病生存率良好。未来的研究需要阐明最佳的新辅助系统疗法,并确定肿瘤学上安全的策略,以便对残留的微小病灶进行腋窝降级治疗。
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引用次数: 0
ASO Author Reflections: Dorsal Approach Combined with In Situ Split for Laparoscopic Segment 7 Resection. ASO 作者的思考:背侧入路结合原位分割进行腹腔镜第 7 节段切除术。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-08-27 DOI: 10.1245/s10434-024-16114-x
Chongwei Yang, Rixin Zhang, Zhi Zheng, Ling Zhu
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引用次数: 0
ASO Author Reflections: ICG Fluorescent-Guided Surgery for Sentinel Lymph Node Biopsy Used as a Single Tracer Shown Sensitivity, Safety, and Efficacy in Early Breast Cancer Surgery. ASO 作者反思:ICG荧光引导手术前哨淋巴结活检作为单一示踪剂在早期乳腺癌手术中的敏感性、安全性和有效性。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-23 DOI: 10.1245/s10434-024-16266-w
Vassilis Pitsinis, Rahul Kanitkar, Alessio Vinci, Wen Ling Choong, John Benson
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引用次数: 0
Robot-Assisted Pancreaticoduodenectomy Using the Anterior Superior Mesenteric Artery-First Approach for Pancreatic Cancer. 机器人辅助胰十二指肠切除术--使用肠系膜前动脉先入法治疗胰腺癌
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-27 DOI: 10.1245/s10434-024-16305-6
Kosei Takagi, Tomokazu Fuji, Kazuya Yasui, Motohiko Yamada, Takeyoshi Nishiyama, Yasuo Nagai, Noriyuki Kanehira, Toshiyoshi Fujiwara

Background: The superior mesenteric artery (SMA)-first approach for pancreatic cancer (PC) is common surgical technique in pancreaticoduodenectomy. To date, few studies have reported SMA-first approach in robot-assisted pancreaticoduodenectomy (RPD). Herein, we present the anterior SMA-first approach for PC during RPD.

Patient and method: A 75-year-old man with resectable PC underwent RPD after neoadjuvant chemotherapy. As pancreatic head tumor contacted with the superior mesenteric vein (SMV), the anterior SMA approach was applied. After the mesenteric Kocher maneuver, the jejunum was divided and the left side of the SMA was dissected. Subsequently, the anterior plane of the SMA was dissected. Following the division of branches from the mesenteric vessels, the SMA was taped, and the circumferential dissection around the SMA was performed to detach the pancreatic neck from the SMA completely. Finally, the dissection between the SMV and the tumor was performed under vascular control to remove the specimen.

Conclusions: The anterior SMA-first approach can be optional in patients with PC undergoing RPD. This unique approach allows for the circumferential dissection around the SMA during RPD.

背景:肠系膜上动脉(SMA)先入路治疗胰腺癌(PC)是胰十二指肠切除术中常见的手术技术。迄今为止,很少有研究报道在机器人辅助胰十二指肠切除术(RPD)中采用肠系膜上动脉先入路。在此,我们介绍了在 RPD 过程中 PC 的前部 SMA 先入路:一名 75 岁男性患者,患有可切除的 PC,在接受新辅助化疗后接受了 RPD。由于胰头肿瘤与肠系膜上静脉(SMV)相通,因此采用了前SMA入路。在进行肠系膜 Kocher 手法后,分割空肠并解剖 SMA 左侧。随后,解剖 SMA 前部平面。分割肠系膜血管分支后,捆绑 SMA,围绕 SMA 进行环形剥离,将胰腺颈与 SMA 完全分离。最后,在血管控制下解剖 SMV 和肿瘤,取出标本:结论:对于接受RPD手术的PC患者,可以选择SMA前路。这种独特的方法允许在 RPD 过程中围绕 SMA 进行环形剥离。
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引用次数: 0
ASO Author Reflections: Evaluating Treatment Intensities in Nasopharyngeal Carcinoma-Insights from Real-World Evidence. ASO 作者反思:评估鼻咽癌的治疗强度--来自真实世界证据的启示。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-26 DOI: 10.1245/s10434-024-16264-y
Chung-Wen Jen, Skye Hung-Chun Cheng
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引用次数: 0
Authors' Response to Letter to Editor from Rongrui Zhao, Xinyue Ma, and Jiacui Zhang. 作者对赵荣瑞、马欣悦和张家翠致编辑信的回复。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-10-04 DOI: 10.1245/s10434-024-16324-3
Ayako Okuyama, Tomonori Mizutani, Keisei Tachibana, Takahiro Higashi, Asao Ogawa
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引用次数: 0
Impact of Tumor Size and Differentiation Grade on Survival After Lobectomy and Segmentectomy for Patients with Early-Stage Lung Adenocarcinoma. 肿瘤大小和分化等级对早期肺腺癌患者肺叶切除术和肺段切除术后生存期的影响
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-06-27 DOI: 10.1245/s10434-024-15673-3
Yangwei Xiang, Ke Zhou, Cheng Fang, Weili Han

Background: The purpose of this study was to investigate the effect of tumor size and differentiation grade on long term survival in patients with early-stage lung adenocarcinoma (LUAD) after lobectomy and segmentectomy.

Patients and methods: Patients with stage T1-2N0M0 LUAD who underwent lobectomy and segmentectomy were identified from the Surveillance, Epidemiology, and End Results database. Patients were stratified as grade I (well differentiated), grade II (moderately differentiated), and grade III/IV (poorly differentiated/undifferentiated) carcinomas. The effect of tumor size on overall survival (OS) and lung cancer-specific survival (LCSS) was evaluated using the multivariate Cox regression model, including the interaction between tumor size, type of surgery, and tumor differentiation grade. The inverse probability of treatment weighting method was used to adjust for bias between the groups.

Results: A total of 19,857 patients were identified, including 18,759 (94.4%) who underwent lobectomy and 1098 (5.5%) who underwent segmentectomy. A three-way interaction among tumor size, differentiation grade, and type of surgery was observed in the overall cohort. After stratifying by differentiation grade, plots of interaction revealed that lobectomy was associated with improved survival compared with segmentectomy when the tumor size exceeded 23 mm for grade I LUAD and 14 mm for grade II LUAD. No interaction was observed between the studied factors in grade III/IV carcinomas.

Conclusions: This study interpreted the interaction between tumor size and type of surgery on long-term survival in patients with early stage LUAD and established a tumor size threshold beyond which lobectomy provided survival benefits compared with segmentectomy.

研究背景本研究旨在探讨肿瘤大小和分化等级对早期肺腺癌(LUAD)患者肺叶切除术和肺段切除术后长期生存的影响:从监测、流行病学和最终结果数据库中筛选出接受肺叶切除术和肺段切除术的 T1-2N0M0 期 LUAD 患者。患者被分为I级(分化良好)、II级(中度分化)和III/IV级(分化不良/未分化)癌。采用多变量考克斯回归模型评估了肿瘤大小对总生存期(OS)和肺癌特异性生存期(LCSS)的影响,包括肿瘤大小、手术类型和肿瘤分化分级之间的交互作用。采用逆治疗概率加权法来调整组间偏差:共发现19857例患者,其中18759例(94.4%)接受了肺叶切除术,1098例(5.5%)接受了肺段切除术。在总体队列中观察到肿瘤大小、分化等级和手术类型之间存在三方交互作用。根据分化等级进行分层后,交互作用图显示,当肿瘤大小超过23毫米(I级LUAD)和14毫米(II级LUAD)时,与分段切除术相比,肺叶切除术的生存率更高。在III/IV级癌症中,未观察到研究因素之间的相互作用:本研究解释了肿瘤大小和手术类型对早期LUAD患者长期生存的交互作用,并确定了肿瘤大小的阈值,超过该阈值,肺叶切除术与分段切除术相比可提高生存率。
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引用次数: 0
Incidence of Pathologic Nodal Disease in Clinically Node-Negative, Microinvasive or T1a Breast Cancers. 临床结节阴性、微侵袭性或 T1a 乳腺癌的病理结节病发生率。
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-06 DOI: 10.1245/s10434-024-16124-9
Pranam Dey, Madhav Kc, Ellie M Proussaloglou, Jasmine A Khubchandani, Leah Kim, Gregory Zanieski, Tristen Park, Melanie Lynch, Alyssa Gillego, Monica Valero, Eric Schneider, Mehra Golshan, Rachel A Greenup, Elizabeth R Berger

Background: Axillary staging in early-stage breast cancer can impact adjuvant treatment options but also has associated morbidity. The incidence of pathologic nodal positivity (pN+) in patients with microinvasive or T1a disease is poorly characterized and the value of sentinel node biopsy remains controversial.

Methods: Women with cN0 and pathologic microinvasive or T1a cancer who underwent upfront surgery were identified from the National Cancer Database. Pathologic nodal stage at the time of surgery was the primary outcome. Multivariable logistic modeling was used to assess predictors of pN+.

Results: Overall, 141,840 women were included; 139,206 had pathologic node-negative (pN0) disease and 2634 had pN+ disease. Rates of pN+ disease differed by receptor status, with the highest rates in hormone receptor-negative/human epidermal growth factor receptor 2-positive (HR-/HER2+) disease compared with triple-negative breast cancer (TNBC), HR-positive/HER2-negative (HR+/HER2-), and triple positive breast cancer. Rates of pN+ were also higher with lobular histology compared with ductal histology. Multivariable analysis demonstrated that compared with White women, Black women had higher odds of pN+ disease, and compared with women <50 years of age, women >70 years of age had higher odds of pN+ disease. Compared with women with HR+/HER2- disease, women with TNBC, triple-positive breast cancer, and HR-/HER2+ all had lower odds, and women with invasive lobular disease had higher odds compared with women with invasive ductal disease. Women with significant comorbidities also had higher odds of node positivity.

Conclusion: Over 90% of patients with clinically node-negative, microinvasive and T1a breast cancer remain pathologically node-negative following axillary staging. However, higher rates of nodal disease were found among Black patients, older patients, and patients with lobular cancer and significant comorbidities.

背景:早期乳腺癌的腋窝分期会影响辅助治疗方案,但也会带来相关的发病率。微小浸润性或 T1a 患者病理结节阳性(pN+)的发生率尚不明确,前哨结节活检的价值仍存在争议:从国家癌症数据库中筛选出接受前期手术的 cN0 和病理微小浸润性或 T1a 癌症女性患者。手术时的病理结节分期是主要结果。多变量逻辑模型用于评估pN+的预测因素:结果:共纳入了 141840 名妇女,其中 139206 名妇女的病理结节为阴性(pN0),2634 名妇女的病理结节为 pN+。pN+疾病的发病率因受体状态而异,与三阴性乳腺癌(TNBC)、HR阳性/HER2-阴性(HR+/HER2-)和三阳性乳腺癌相比,激素受体阴性/人表皮生长因子受体2阳性(HR-/HER2+)疾病的发病率最高。与导管组织学相比,小叶组织学的pN+率也更高。多变量分析表明,与白人女性相比,黑人女性出现 pN+ 病变的几率更高,与 70 岁女性相比,出现 pN+ 病变的几率更高。与患有HR+/HER2-疾病的女性相比,患有TNBC、三阳性乳腺癌和HR-/HER2+的女性的几率都较低,而患有浸润性小叶疾病的女性与患有浸润性导管疾病的女性相比几率更高。有严重合并症的女性出现结节阳性的几率也更高:结论:超过 90% 的临床结节阴性、微小浸润性和 T1a 乳腺癌患者在腋窝分期后病理结节仍为阴性。然而,黑人患者、年龄较大的患者以及患有小叶癌和严重合并症的患者的结节病率较高。
{"title":"Incidence of Pathologic Nodal Disease in Clinically Node-Negative, Microinvasive or T1a Breast Cancers.","authors":"Pranam Dey, Madhav Kc, Ellie M Proussaloglou, Jasmine A Khubchandani, Leah Kim, Gregory Zanieski, Tristen Park, Melanie Lynch, Alyssa Gillego, Monica Valero, Eric Schneider, Mehra Golshan, Rachel A Greenup, Elizabeth R Berger","doi":"10.1245/s10434-024-16124-9","DOIUrl":"10.1245/s10434-024-16124-9","url":null,"abstract":"<p><strong>Background: </strong>Axillary staging in early-stage breast cancer can impact adjuvant treatment options but also has associated morbidity. The incidence of pathologic nodal positivity (pN+) in patients with microinvasive or T1a disease is poorly characterized and the value of sentinel node biopsy remains controversial.</p><p><strong>Methods: </strong>Women with cN0 and pathologic microinvasive or T1a cancer who underwent upfront surgery were identified from the National Cancer Database. Pathologic nodal stage at the time of surgery was the primary outcome. Multivariable logistic modeling was used to assess predictors of pN+.</p><p><strong>Results: </strong>Overall, 141,840 women were included; 139,206 had pathologic node-negative (pN0) disease and 2634 had pN+ disease. Rates of pN+ disease differed by receptor status, with the highest rates in hormone receptor-negative/human epidermal growth factor receptor 2-positive (HR-/HER2+) disease compared with triple-negative breast cancer (TNBC), HR-positive/HER2-negative (HR+/HER2-), and triple positive breast cancer. Rates of pN+ were also higher with lobular histology compared with ductal histology. Multivariable analysis demonstrated that compared with White women, Black women had higher odds of pN+ disease, and compared with women <50 years of age, women >70 years of age had higher odds of pN+ disease. Compared with women with HR+/HER2- disease, women with TNBC, triple-positive breast cancer, and HR-/HER2+ all had lower odds, and women with invasive lobular disease had higher odds compared with women with invasive ductal disease. Women with significant comorbidities also had higher odds of node positivity.</p><p><strong>Conclusion: </strong>Over 90% of patients with clinically node-negative, microinvasive and T1a breast cancer remain pathologically node-negative following axillary staging. However, higher rates of nodal disease were found among Black patients, older patients, and patients with lobular cancer and significant comorbidities.</p>","PeriodicalId":8229,"journal":{"name":"Annals of Surgical Oncology","volume":" ","pages":"8821-8828"},"PeriodicalIF":3.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Circulating Tumor DNA in Patients with Desmoid Fibromatosis during Active Surveillance. 主动监测期间脱模性纤维瘤病患者体内的循环肿瘤 DNA
IF 3.4 2区 医学 Q2 ONCOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-07 DOI: 10.1245/s10434-024-16147-2
Laura Bergamaschi, Marta Zorza, Francesca Rini, Federica Perrone, Licia Rivoltini, Alessandro Gronchi, Sandro Pasquali, Nadia Zaffaroni, Viviana Vallacchi, Chiara Colombo

Background: Sporadic desmoid fibromatosis (DF) is a rare locally aggressive tumor characterized by mutation in exon 3 of CTNNB1 (T41A, S45F, and S45P). Standard of care is active surveillance (AS), but 30% require treatment. DF clinical course is unpredictable and identification of prognostic markers is needed to tailor strategy. In this prospective study, we investigated the consistency between mutation detected in tumor biopsies with that detected in plasma by digital droplet PCR (ddPCR) and the association between circulating tumor DNA (ctDNA) abundancy with clinical outcome.

Patients and methods: A total of 56 patients and 10 healthy donors were included. CTNNB1 mutation status of DF biopsies was determined by Sanger and in case of WT CTNNB1 with NGS. In matched plasma samples at enrollment and during AS at specific timepoints, we evaluated cfDNA quantity and ctDNA.

Results: ctDNA levels were measured in 46 patients with CTNNB1 mutation. Detection rate for T41A, S45F and S45P was 68%, 42% and 100%, respectively. S45P variant has been detected in all patients with S45P mutation. Longitudinal assessment of ctDNA during AS in nine patients (four with regression and five with progression as first event according to RECIST) showed a concordance between the event and ctDNA level change in six out of nine patients tested (4/5 with progression and 2/4 with regression).

Conclusions: Results of ctDNA analysis support its potential clinical implementation as diagnostic tool in specific clinical scenarios where biopsy can be challenging. A prospective clinical trial needs to be performed to evaluate the potential role of ctDNA as predictive biomarker.

背景:散发性苔藓样纤维瘤病(DF)是一种罕见的局部侵袭性肿瘤,其特点是 CTNNB1 第 3 外显子发生突变(T41A、S45F 和 S45P)。标准治疗方法是积极监测(AS),但有 30% 的患者需要治疗。DF的临床病程难以预测,因此需要确定预后标志物来制定治疗策略。在这项前瞻性研究中,我们调查了通过数字液滴 PCR(ddPCR)在肿瘤活检组织中检测到的突变与在血浆中检测到的突变之间的一致性,以及循环肿瘤 DNA(ctDNA)丰度与临床结果之间的关联:共纳入56名患者和10名健康供体。DF活检组织的CTNNB1突变状态由Sanger测定,WT CTNNB1突变状态由NGS测定。在入组和 AS 期间的特定时间点,我们对匹配的血浆样本中的 cfDNA 数量和 ctDNA 进行了评估。T41A、S45F和S45P的检出率分别为68%、42%和100%。在所有 S45P 突变患者中都检测到了 S45P 变异。对9名患者(根据RECIST标准,4名患者病情恶化,5名患者病情进展为首发事件)进行的AS期间ctDNA纵向评估显示,9名受检患者中有6名患者(4/5病情恶化,2/4病情恶化)的事件与ctDNA水平变化一致:ctDNA分析结果表明,在活组织检查具有挑战性的特定临床情况下,ctDNA有可能作为诊断工具应用于临床。需要进行前瞻性临床试验,以评估ctDNA作为预测性生物标记物的潜在作用。
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引用次数: 0
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Annals of Surgical Oncology
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