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A Case of APC Gene Mutation-Associated Familial Adenomatous Polyposis With Multiple System Malignancies APC基因突变相关家族性腺瘤性息肉病合并多系统恶性肿瘤1例。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-17 DOI: 10.1002/cnr2.70362
Ren Yijing, Wang Wenjun, Gao Xiang, Xing Kongling, Chen Yunxia, Liao Wei, Zhou Ping

Background

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder, with a nearly 100% risk of developing colorectal cancer by the age of 40. The primary gene mutated in FAP is APC, and mutations in certain regions of the APC gene may be associated with thyroid disorders, including malignant neoplasms, benign nodules, and endocrine diseases of the thyroid. FAP-associated colorectal cancer (FAP-CRC) demonstrates poorer treatment outcomes compared to sporadic colorectal cancer, which may be attributed to several factors such as distinct molecular pathogenesis, chromosomal instability (CIN), and tumor microenvironment (TME).

Case

We describe the case of a 30-year-old female patient with a history of papillary thyroid carcinoma who presented with abdominal pain. Gastrointestinal endoscopy revealed multiple polyps in the stomach and colon. Additionally, the patient was found to have metastatic colorectal cancer with hepatic and pulmonary involvement. Further genetic testing revealed a deletion mutation in the APC gene at exon 16, c.1974_1975del (p.Asn659Glnfs*14). Despite the implementation of multiple therapeutic regimens, the patient's condition showed a poor response, ultimately leading to her demise. We conducted an in-depth analysis of the potential factors contributing to this outcome.

Conclusion

APC gene mutations lead to FAP and subsequent colorectal cancer, and may also predispose individuals to thyroid disorders, including malignancies, benign nodules, and endocrine dysfunction. Therefore, we recommend that young patients diagnosed with thyroid cancer undergo a thorough evaluation of family history for hereditary conditions. Additionally, consideration should be given to gastrointestinal endoscopic and ophthalmologic screening, as well as molecular genetic testing. When multiple gastric and colorectal polyps are detected, genetic alterations in APC or MUTYH should be suspected. In particular, female patients diagnosed with FAP before the age of 31 should undergo annual thyroid ultrasound surveillance.

背景:家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传疾病,在40岁时发生结直肠癌的风险接近100%。FAP的主要突变基因是APC, APC基因某些区域的突变可能与甲状腺疾病有关,包括恶性肿瘤、良性结节和甲状腺内分泌疾病。与散发性结直肠癌相比,fap相关性结直肠癌(FAP-CRC)的治疗效果较差,这可能归因于多种因素,如不同的分子发病机制、染色体不稳定性(CIN)和肿瘤微环境(TME)。病例:我们描述了一个30岁的女性患者的历史乳头状甲状腺癌谁提出腹痛。胃肠内窥镜检查发现胃和结肠有多个息肉。此外,患者被发现有转移性结直肠癌,并累及肝脏和肺部。进一步的基因检测显示APC基因外显子16,c.1974_1975del (p.Asn659Glnfs*14)缺失突变。尽管实施了多种治疗方案,但患者的病情反应不佳,最终导致了她的死亡。我们对导致这一结果的潜在因素进行了深入分析。结论:APC基因突变可导致FAP和随后的结直肠癌,并可能使个体易患甲状腺疾病,包括恶性肿瘤、良性结节和内分泌功能障碍。因此,我们建议诊断为甲状腺癌的年轻患者进行彻底的家族史遗传条件的评估。此外,应考虑胃肠内镜和眼科筛查,以及分子基因检测。当检测到多发胃息肉和结肠息肉时,应怀疑APC或MUTYH基因的改变。特别是,31岁以前诊断为FAP的女性患者应每年进行甲状腺超声监测。
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引用次数: 0
Acute Radiation Esophagitis After Chemoradiotherapy Demonstrating “Tube-Like” FDG Uptake on PET-CT: Case Report and Literature Review 放化疗后急性放射性食管炎在PET-CT上显示“管状”FDG摄取:病例报告及文献复习。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-16 DOI: 10.1002/cnr2.70365
Tatsuyuki Kawahara, Nobuaki Ochi, Kensuke Matsuzaki, Hirohito Kirishi, Yusuke Sunada, Ayaka Mimura, Naruhiko Ichiyama, Yoko Kosaka, Yasunari Nagasaki, Hidekazu Nakanishi, Hiromichi Yamane, Nagio Takigawa

Background

Radiation esophagitis (RE) is a frequent complication of concurrent chemoradiotherapy (CRT) for non-small cell lung cancer (NSCLC). However, its acute-phase imaging features on positron emission tomography-computed tomography (PET-CT) are rarely described in detail. Early identification of such findings may help differentiate RE from other causes of esophageal fluorodeoxyglucose (FDG) uptake.

Case

We report a case of a 75-year-old man with stage IIIA NSCLC who underwent CRT with cisplatin and S-1 alongside intensity-modulated radiation therapy (IMRT). During the acute phase, PET-CT revealed an unusual tube-like pattern of FDG uptake in the esophagus (SUVmax = 5.5), which subsequently resolved. The patient later developed chronic RE presenting as dysphagia, which gradually improved with conservative treatment.

Conclusion

This case highlights an atypical tube-like FDG uptake pattern on PET-CT during acute RE and underscores the need for awareness of this finding. A review of the literature suggests potential overlap with imaging features of chemotherapy-induced or Candida esophagitis. Larger studies are warranted to evaluate whether such PET-CT findings may serve as early markers for acute RE and predictors of chronic complications.

背景:放射性食管炎(RE)是同步放化疗(CRT)治疗非小细胞肺癌(NSCLC)的常见并发症。然而,其在正电子发射断层扫描-计算机断层扫描(PET-CT)上的急性期成像特征很少被详细描述。早期识别这些发现可能有助于将RE与其他原因的食管氟脱氧葡萄糖(FDG)摄取区分开来。病例:我们报告了一例75岁的IIIA期非小细胞肺癌患者,他接受了顺铂和S-1联合调强放疗(IMRT)的CRT。在急性期,PET-CT显示食道内不寻常的管状FDG摄取模式(SUVmax = 5.5),随后消退。患者后来发展为慢性RE,表现为吞咽困难,经保守治疗后逐渐好转。结论:该病例在急性RE期间的PET-CT上突出了非典型管状FDG摄取模式,并强调了对这一发现的认识的必要性。文献回顾提示与化疗诱导的或念珠菌性食管炎的影像学特征可能重叠。需要更大规模的研究来评估PET-CT的发现是否可以作为急性RE的早期标记和慢性并发症的预测因子。
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引用次数: 0
Synchronous Melanoma and Follicular Lymphoma in the Same Nodal Basin: A Diagnostic and Therapeutic Challenge 同一淋巴结池的同步黑色素瘤和滤泡性淋巴瘤:诊断和治疗的挑战。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-13 DOI: 10.1002/cnr2.70363
Silvia Borriello, Umberto Santaniello, Matteo G. Brizio, Paolo Fava, Giovanni Cavaliere, Giulia Carpentieri, Rebecca Senetta, Adriana Lesca, Simone Ribero, Pietro Quaglino, Franco Picciotto

Background

The incidence of both malignant melanoma (MM) and non-Hodgkin lymphoma (NHL) has risen in recent decades, with studies suggesting a potential bidirectional association. Nonetheless, synchronous presentation of active disease in both entities remains rare.

Case

We report the case of a 62-year-old man with a history of indolent B-cell lymphoma, exhibiting features between marginal zone and follicular subtype, previously treated with R-CHOP, radiotherapy, and Rituximab maintenance, achieving complete remission. Ten years later, he developed an ulcerated superficial spreading melanoma (Breslow thickness 4.5 mm, pT4b), with staging CT revealing right axillary lymphadenopathy. Biopsy confirmed relapsed follicular lymphoma. Surgical management included wide excision and sentinel lymph node biopsy, which identified melanoma metastasis in one sentinel node and confirmed FL in the non-sentinel node. Molecular testing showed a BRAFV600E mutation. The patient received axillary radiotherapy followed by adjuvant BRAF/MEK inhibitor therapy.

Conclusion

At 6-month follow-up, imaging showed no evidence of relapse. This represents the first documented case of synchronous stage III BRAF-mutated MM and FL managed with targeted BRAF/MEK inhibitors combined with localized radiotherapy. The successful outcome validates this sequential multidisciplinary approach and underscores the importance of dermatologic surveillance in NHL survivors.

背景:近几十年来,恶性黑色素瘤(MM)和非霍奇金淋巴瘤(NHL)的发病率都有所上升,研究表明两者之间存在潜在的双向关联。尽管如此,在两个实体中同时出现活动性疾病仍然很少见。病例:我们报告一例62岁男性无性b细胞淋巴瘤病史,表现出介于边缘区和滤泡亚型之间的特征,先前接受R-CHOP,放疗和利图昔单抗维持治疗,获得完全缓解。10年后,患者发展为溃疡性浅表扩散黑色素瘤(Breslow厚度4.5 mm, pT4b),分期CT显示右侧腋窝淋巴结病变。活检证实滤泡性淋巴瘤复发。手术治疗包括广泛切除和前哨淋巴结活检,其中一个前哨淋巴结发现黑色素瘤转移,非前哨淋巴结确认FL。分子检测显示BRAFV600E突变。患者接受腋窝放疗后辅助BRAF/MEK抑制剂治疗。结论:随访6个月,影像学未见复发。这是第一例记录在案的同步III期BRAF突变的MM和FL,采用靶向BRAF/MEK抑制剂联合局部放疗治疗。成功的结果验证了这种连续的多学科方法,并强调了NHL幸存者皮肤病学监测的重要性。
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引用次数: 0
Potential of Serum ApoC1 as a Noninvasive Biomarker for Breast Cancer Detection and Prognosis: A Prospective Case–Control Study 血清ApoC1作为乳腺癌检测和预后的无创生物标志物的潜力:一项前瞻性病例对照研究
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-10 DOI: 10.1002/cnr2.70359
Abolfazl Khalafi-Nezhad, Mahdi Barazesh, Ahmad Abdollahi, Negin Kheiri, Marzieh Amani

Background and Aims

Breast cancer (BC) is one of the most frequent malignancies. Apolipoprotein C1 (ApoC1) has been known as a promising therapeutic target and valuable prognostic and diagnostic biomarker in cancers. The aim of this study was to explore the diagnostic implication of serum ApoC1 concentration in new cases of BC.

Methods

This prospective case–control study was conducted on 76 new cases of BC patients referred to Amir-al-Momenin Gerash hospital. Subjects in the control group were 15 healthy individuals. The serum concentrations of ApoC1 of the control group and the BC patients were measured by ELISA assay. Data analysis was performed using Student's t-test and one-way analysis of variance (ANOVA) followed by Dunnett's post hoc test.

Results

The mean age of the BC patients was 49.21 ± 10.42 years. In terms of diagnostic performance, ApoC1 concentration showed a significant down-regulation in female BC patients compared to healthy controls. The receiver operating characteristic (ROC) curve analysis indicated an area under the curve (AUC) of 1.00, demonstrating the excellent diagnostic value of ApoC1 in distinguishing BC patients from healthy individuals. The optimal cutoff value for ApoC1 concentration was determined to be 15.4 mg/dL, with 100% sensitivity, 100% specificity, and 100% accuracy. Furthermore, the prognostic analysis focused on HER2 over-expression patients demonstrated a statistically significant difference in ApoC1 concentration compared to other types of BC. The ROC curve analysis revealed the prognostic performance of ApoC1, with an optimal cutoff value of 5.6 mg/dL, 100% positive predictive value (PPV), and 100% negative predictive value (NPV).

Conclusion

According to the findings of the current study, ApoC1 may be a potential serum biomarker for the diagnosis of BC. Moreover, ApoC1 can be considered a highly accurate prognostic biomarker for BC.

背景和目的乳腺癌(BC)是最常见的恶性肿瘤之一。载脂蛋白C1 (apo1)已被认为是一种有前景的治疗靶点和有价值的癌症预后和诊断生物标志物。本研究的目的是探讨血清ApoC1浓度在新发BC病例中的诊断意义。方法本前瞻性病例对照研究对76例转诊至Gerash Amir-al-Momenin医院的BC新病例进行分析。对照组为15名健康个体。采用ELISA法检测对照组和BC患者的血清ApoC1浓度。数据分析采用学生t检验和单因素方差分析(ANOVA),随后采用Dunnett事后检验。结果BC患者平均年龄49.21±10.42岁。在诊断性能方面,与健康对照组相比,女性BC患者的ApoC1浓度显着下调。受试者工作特征(ROC)曲线分析显示曲线下面积(AUC)为1.00,表明apop1在区分BC患者和健康个体方面具有良好的诊断价值。apop1浓度的最佳临界值为15.4 mg/dL,灵敏度100%,特异性100%,准确度100%。此外,HER2过表达患者的预后分析显示,与其他类型的BC相比,apo1浓度有统计学意义。ROC曲线分析显示ApoC1的预后表现,最佳临界值为5.6 mg/dL,阳性预测值(PPV)为100%,阴性预测值(NPV)为100%。结论根据本研究结果,ApoC1可能是诊断BC的潜在血清生物标志物。此外,apo1可以被认为是BC的高度准确的预后生物标志物。
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引用次数: 0
Clinical and Surgical Outcome After Oncovascular Surgery of Soft Tissue and Osteogenic Sarcomas of the Limbs 四肢软组织和骨源性肉瘤血管手术后的临床和手术效果。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-08 DOI: 10.1002/cnr2.70353
Sebastian Kapahnke, Matthias Bürger, Melanie Rusch, Grischa Hoffmann, Philipp Johannes Pauli, Lars Hummitzsch, Martin Albrecht, Roland Bertolini, Julia Bertolini, Rene Rusch, Rouven Berndt, Christoph Röcken, Daniel Drücke, Katharina Hess

Background

Soft tissue sarcomas (STS) and osteogenic sarcomas (OGS) of the limbs are rare diseases. Nowadays, most patients with STS or OGS undergo tumor resection and subsequent vascular reconstruction for potential limb preservation.

Aims

Due to very limited data on these complex surgical procedures, the aim of this single-center, retrospective study was to evaluate the surgical and oncological outcomes of these patients.

Methods

From 2013 to 2023, demographic, clinical, surgical, and pathological data regarding tumor disease, surgical treatment, and postoperative care of a total of 10 patients with STS and OGS were identified and analyzed. Furthermore, overall survival (OS) and freedom from tumor recurrence (FFT) were retrospectively investigated among all patients.

Results

The mean age of the patients was 64.4 ± 22.24 years, and six women (60%) and four men (40%) were treated. Overall, 16 major arterial and venous vessels were resected and reconstructed: the lower extremity was affected in nine patients (90%). Autologous veins (n = 12, 75%), polytetrafluoroethylene (PTFE; n = 2, 12.5%), or cryopreserved allografts (n = 2, 12.5%) were mainly used for vascular reconstruction. The follow-up ranged from 7 to 60 months, with a median OS of 48 months and a median FFT of 54 months. Overall, four patients (40%) developed local tumor recurrence at the primary surgical resection site or metastasis. The primary graft patency for all vascular reconstructions was 90% at the median follow-up of 24 months. All revascularized limbs among these patients could be salvaged during the follow-up period.

Conclusion

Treatment of patients with STS or OGS of the limbs and subsequent vascular reconstruction can be performed safely and effectively. The outcomes described in this cohort suggest that an interdisciplinary team, including vascular surgeons and a carefully planned and rigorous clinical approach, might positively influence the postoperative and oncological outcome and limb salvage.

背景:四肢软组织肉瘤(STS)和骨源性肉瘤(OGS)是一种罕见的疾病。目前,大多数STS或OGS患者接受肿瘤切除和随后的血管重建,以潜在地保留肢体。目的:由于这些复杂手术的资料非常有限,本单中心回顾性研究的目的是评估这些患者的手术和肿瘤预后。方法:对2013 - 2023年共10例STS和OGS患者的肿瘤疾病、手术治疗和术后护理的人口学、临床、手术和病理资料进行分析。此外,对所有患者的总生存期(OS)和无肿瘤复发(FFT)进行回顾性调查。结果:患者平均年龄64.4±22.24岁,其中女性6例(60%),男性4例(40%)。总的来说,16条主要的动脉和静脉血管被切除并重建:9名患者(90%)的下肢受到影响。血管重建主要采用自体静脉(n = 12, 75%)、聚四氟乙烯(PTFE; n = 2, 12.5%)或冷冻保存同种异体移植物(n = 2, 12.5%)。随访时间为7至60个月,中位OS为48个月,中位FFT为54个月。总体而言,4例患者(40%)在原发手术切除部位出现局部肿瘤复发或转移。在中位随访24个月时,所有血管重建的初级移植物通畅度为90%。在随访期间,所有血运重建的肢体均可恢复。结论:四肢STS或OGS患者的治疗及后续血管重建是安全有效的。本队列中描述的结果表明,一个跨学科的团队,包括血管外科医生和精心计划和严格的临床方法,可能会对术后和肿瘤结果以及肢体保留产生积极影响。
{"title":"Clinical and Surgical Outcome After Oncovascular Surgery of Soft Tissue and Osteogenic Sarcomas of the Limbs","authors":"Sebastian Kapahnke,&nbsp;Matthias Bürger,&nbsp;Melanie Rusch,&nbsp;Grischa Hoffmann,&nbsp;Philipp Johannes Pauli,&nbsp;Lars Hummitzsch,&nbsp;Martin Albrecht,&nbsp;Roland Bertolini,&nbsp;Julia Bertolini,&nbsp;Rene Rusch,&nbsp;Rouven Berndt,&nbsp;Christoph Röcken,&nbsp;Daniel Drücke,&nbsp;Katharina Hess","doi":"10.1002/cnr2.70353","DOIUrl":"10.1002/cnr2.70353","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Soft tissue sarcomas (STS) and osteogenic sarcomas (OGS) of the limbs are rare diseases. Nowadays, most patients with STS or OGS undergo tumor resection and subsequent vascular reconstruction for potential limb preservation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>Due to very limited data on these complex surgical procedures, the aim of this single-center, retrospective study was to evaluate the surgical and oncological outcomes of these patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>From 2013 to 2023, demographic, clinical, surgical, and pathological data regarding tumor disease, surgical treatment, and postoperative care of a total of 10 patients with STS and OGS were identified and analyzed. Furthermore, overall survival (OS) and freedom from tumor recurrence (FFT) were retrospectively investigated among all patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The mean age of the patients was 64.4 ± 22.24 years, and six women (60%) and four men (40%) were treated. Overall, 16 major arterial and venous vessels were resected and reconstructed: the lower extremity was affected in nine patients (90%). Autologous veins (<i>n</i> = 12, 75%), polytetrafluoroethylene (PTFE; <i>n</i> = 2, 12.5%), or cryopreserved allografts (<i>n</i> = 2, 12.5%) were mainly used for vascular reconstruction. The follow-up ranged from 7 to 60 months, with a median OS of 48 months and a median FFT of 54 months. Overall, four patients (40%) developed local tumor recurrence at the primary surgical resection site or metastasis. The primary graft patency for all vascular reconstructions was 90% at the median follow-up of 24 months. All revascularized limbs among these patients could be salvaged during the follow-up period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Treatment of patients with STS or OGS of the limbs and subsequent vascular reconstruction can be performed safely and effectively. The outcomes described in this cohort suggest that an interdisciplinary team, including vascular surgeons and a carefully planned and rigorous clinical approach, might positively influence the postoperative and oncological outcome and limb salvage.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":"8 10","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249809","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}
引用次数: 0
Long-Term Outcomes and Toxicities in Patients With Metastatic Non-Small Cell Lung Cancer Treated With Immunotherapy Containing Regimens 转移性非小细胞肺癌患者接受含免疫疗法治疗的长期预后和毒性
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-08 DOI: 10.1002/cnr2.70361
Meghana Maddula, Lauren J. Brown, Venessa Chin, Bo Gao, Ines Pires Da Silva, Adnan Nagrial

Introduction

Immunotherapy is well-established in treating metastatic non-small cell lung cancer (mNSCLC); however, data regarding acquired resistance and long-term outcomes are limited. We examined long-term outcomes in mNSCLC patients with ongoing treatment response at 2 years (long-term responders) post-treatment commencement.

Methods

This multi-center retrospective study identified mNSCLC patients treated with first- or second-line immunotherapy±chemotherapy. Endpoints included progression-free survival (PFS) and overall survival (OS), stratified by PD-L1 tumor proportion score (TPS) (< 50% vs. ≥ 50%), treatment duration, and treatment line.

Results

Of 354 patients, 52 (15%) long-term responders were identified for analysis. Among them, median age was 68.5 years (28–87); the majority had an ECOG performance status ≤ 1 (81%), high-PD-L1 TPS (52%), and adenocarcinoma histopathology (83%). Most (73%) received immunotherapy first-line. Median treatment duration was 23.5 months (1–80), and 19% prematurely ceased treatment. With a median follow-up of 39 months from treatment commencement (95% CI 37–49), 15 (29%) patients had progressive disease, and 3-year PFS was 78%. Oligo-progression was common (87%), with lung/pleural disease (53%). Most received subsequent treatment (local therapy alone: 53%, systemic therapy alone: 20%, combined: 20%, supportive care: 7%) and achieved disease control (86%). Long-term toxicities occurred in 44% and were predominantly endocrinopathies (83%) requiring ongoing management. Three-year OS was 93%. Survival outcomes were unaffected by treatment duration, PD-L1 TPS, and treatment line.

Conclusions

Long-term responders showed favorable survival outcomes, with most maintaining disease control with local therapies even after progression. This held true regardless of treatment duration, PD-L1 TPS, or treatment line. Endocrinopathies were common long-term toxicities.

免疫疗法在治疗转移性非小细胞肺癌(mNSCLC)方面已经建立起来;然而,关于获得性耐药和长期结果的数据有限。我们研究了治疗开始后2年持续治疗反应的小细胞肺癌患者的长期预后(长期反应者)。方法:这项多中心回顾性研究确定了接受一线或二线免疫治疗±化疗的小细胞肺癌患者。终点包括无进展生存期(PFS)和总生存期(OS),按PD-L1肿瘤比例评分(TPS)分层(结果:354例患者中,有52例(15%)长期应答者被确定用于分析。其中,年龄中位数为68.5岁(28 ~ 87岁);大多数患者ECOG表现状态≤1(81%),高pd - l1 TPS(52%),腺癌组织病理学(83%)。大多数(73%)接受了一线免疫治疗。中位治疗持续时间为23.5个月(1-80个月),19%过早停止治疗。治疗开始后中位随访39个月(95% CI 37-49), 15例(29%)患者病情进展,3年PFS为78%。少进展是常见的(87%),肺/胸膜疾病(53%)。大多数患者接受了后续治疗(单独局部治疗:53%,单独全身治疗:20%,联合治疗:20%,支持治疗:7%)并获得疾病控制(86%)。44%发生长期毒性,主要是内分泌疾病(83%),需要持续治疗。3年生存率为93%。生存结果不受治疗时间、PD-L1 TPS和治疗线的影响。结论:长期应答者表现出良好的生存结果,即使在疾病进展后,大多数人仍能通过局部治疗维持疾病控制。无论治疗时间、PD-L1 TPS或治疗线如何,这都是正确的。内分泌病变是常见的长期毒性。
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引用次数: 0
Bioinformatic Characterization of Genes That Are Correlated to the Progression of Breast Cancer to Breast Cancer Brain Metastasis 与乳腺癌进展到乳腺癌脑转移相关基因的生物信息学特征。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-07 DOI: 10.1002/cnr2.70360
Mageshree Pillay, Oliver Tendayi Zishiri

Background

The incidence of breast cancer is escalating into millions of cases annually all over the world with hundreds of thousands of deaths recorded each year. It has been well established that breast cancer is caused by both genetic and non-genetic factors. However, there is a paucity of information on breast cancer that metastasizes to the brain. The molecular process of carcinogenesis in breast cancer brain metastasis (BCBM) is yet to be fully characterized.

Aims

It is crucial to identify genes linked with breast cancer brain metastasis development and prognosis. This study sought out to decipher putative pathogenic and predictive genes in BCBM using bioinformatic analysis of public datasets.

Methods and Results

The bioinformatic analysis utilized the GSE125989, GSE191230 and GSE52604 datasets. GEO2R was used for the identification of DEGs. Venn was employed to identify the common up-regulated and down-regulated genes. The STRING website was used to create the protein-protein interaction (PPI) network of the DEGs, which was then represented using Cytoscape. A Kaplan–Meier (KM) plotter was used to conduct the hub gene survival analysis. Validation of the hub genes was carried out using UALCAN. The heat map was then visualized using Fun Rich. The tumor infiltrating analysis was carried out using TIMER. Using DAVID, the GO and KEGG analyses were conducted. The structure of the hub genes was obtained from the human protein atlas. A total of 4 DEGs was identified. A PPI network was developed, one significant module was identified, and 3 clusters were selected. Ten hub genes were discovered using Cytoscape‘s MCC ranking technique. Ten hub genes (IL6, INS, TNF, PPARG, PPARA, SLC2A4, PPARGC1A, IRS1, LEP and ADIPOQ) were all associated with the progression of BCBM.

Conclusion

The study‘s findings revealed that the hub genes investigated could be possibly vital genes in determining the molecular mechanism of BCBM.

背景:乳腺癌的发病率正在上升,全世界每年有数百万例病例,每年有数十万人死亡。众所周知,乳腺癌是由遗传和非遗传因素引起的。然而,关于乳腺癌转移到大脑的信息却很少。乳腺癌脑转移(BCBM)发生癌变的分子过程尚未完全明确。目的:确定与乳腺癌脑转移发展和预后相关的基因是至关重要的。本研究试图通过对公共数据集的生物信息学分析来破译BCBM中假定的致病和预测基因。方法和结果:生物信息学分析使用GSE125989、GSE191230和GSE52604数据集。采用GEO2R对deg进行鉴定。采用Venn法鉴定常见的上调和下调基因。STRING网站用于创建deg的蛋白质-蛋白质相互作用(PPI)网络,然后使用Cytoscape表示。使用Kaplan-Meier (KM)绘图仪进行枢纽基因存活分析。使用UALCAN对中心基因进行验证。然后使用Fun Rich将热图可视化。采用TIMER进行肿瘤浸润分析。使用DAVID进行GO和KEGG分析。枢纽基因的结构从人蛋白图谱中得到。共鉴定出4个deg。建立了一个PPI网络,确定了一个重要模块,并选择了3个集群。利用Cytoscape的MCC排序技术发现了10个枢纽基因。10个中心基因(IL6、INS、TNF、PPARG、PPARA、SLC2A4、PPARGC1A、IRS1、LEP和ADIPOQ)均与BCBM的进展相关。结论:本研究结果表明,所研究的枢纽基因可能是决定BCBM分子机制的重要基因。
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引用次数: 0
Prediction of Lung Cancer Metastasis Using Machine Learning Models Based on Clinical Laboratory Data 基于临床实验室数据的机器学习模型预测肺癌转移
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-06 DOI: 10.1002/cnr2.70350
Chao Du, Qi Liu, Yuanyuan Guo, Jun Gong, Ling Yan, Zhijie Li, Changchun Niu

Background

Lymph node (N) or/and distant metastasis in lung cancer indicates poorer prognosis. While laboratory tests and computed tomography (CT) scans reflect tumor growth and metabolic activity, they usually require combination with other diagnostic methods to effectively assess metastasis, resulting in limited clinical use of these results.

Aims

Develop machine learning models using diverse clinical laboratory data to predict lymph node invasion and skip N metastasis in lung cancer.

Methods

This study performs regression analysis on lung cancer cases initially diagnosed by histopathology, categorized into N and M (skip N metastasis) groups by TNM stage. Laboratory and clinical test results were collected as characteristic parameters. Univariate analysis and lasso regression identified key predictors, and four machine learning algorithms developed the model.

Results

Of the 1629 cases analyzed, 861 were assigned to the N group and 519 to the M group. Univariate analysis revealed significant differences in 40 parameters in Group N and 27 parameters in Group M (p < 0.05). LASSO regression identified 13 characteristic factors for the N group and 12 for the M group. In the N group, the factors included tumor size, prothrombin time (PT), mean platelet volume, fibrinogen, platelet count, procalcitonin, carbohydrate antigen 15–3 (CA 15–3), carcinoembryonic antigen (CEA), adenosine deaminase, red blood cell distribution width, thrombin time, smoking history, and alcohol consumption history. In the M group, the factors included cytokeratin 19 fragment, tumor size, CEA, CA 15–3, squamous cell carcinoma antigen (SCCA), alkaline phosphatase, fibrinogen, hemoglobin, calcium, albumin, PT, and absolute monocyte count. The test cohort results indicated that the logistic regression model was optimal for both groups, achieving AUC values of 0.888 and 0.875, respectively.

Conclusion

The study demonstrated the potential of using ML algorithms, laboratory data, and clinical features to predict N involvement and skip N metastasis in lung cancer.

背景:肺癌的淋巴结(N)或/和远处转移提示预后较差。虽然实验室检查和计算机断层扫描(CT)反映肿瘤生长和代谢活动,但它们通常需要与其他诊断方法相结合才能有效评估转移,导致这些结果的临床应用有限。目的:利用不同的临床实验室数据开发机器学习模型来预测肺癌的淋巴结侵袭和跳过N转移。方法:本研究对经组织病理学初步诊断的肺癌病例进行回归分析,根据TNM分期分为N组和M组(跳过N转移)。收集实验室和临床试验结果作为特征参数。单变量分析和套索回归确定了关键的预测因子,四种机器学习算法开发了该模型。结果:1629例病例中,N组861例,M组519例。单因素分析显示,N组的40个参数和M组的27个参数存在显著差异(p)。结论:该研究证明了利用ML算法、实验室数据和临床特征预测肺癌中N的累及和跳过N转移的潜力。
{"title":"Prediction of Lung Cancer Metastasis Using Machine Learning Models Based on Clinical Laboratory Data","authors":"Chao Du,&nbsp;Qi Liu,&nbsp;Yuanyuan Guo,&nbsp;Jun Gong,&nbsp;Ling Yan,&nbsp;Zhijie Li,&nbsp;Changchun Niu","doi":"10.1002/cnr2.70350","DOIUrl":"10.1002/cnr2.70350","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lymph node (N) or/and distant metastasis in lung cancer indicates poorer prognosis. While laboratory tests and computed tomography (CT) scans reflect tumor growth and metabolic activity, they usually require combination with other diagnostic methods to effectively assess metastasis, resulting in limited clinical use of these results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>Develop machine learning models using diverse clinical laboratory data to predict lymph node invasion and skip N metastasis in lung cancer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study performs regression analysis on lung cancer cases initially diagnosed by histopathology, categorized into N and M (skip N metastasis) groups by TNM stage. Laboratory and clinical test results were collected as characteristic parameters. Univariate analysis and lasso regression identified key predictors, and four machine learning algorithms developed the model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 1629 cases analyzed, 861 were assigned to the N group and 519 to the M group. Univariate analysis revealed significant differences in 40 parameters in Group N and 27 parameters in Group M (<i>p</i> &lt; 0.05). LASSO regression identified 13 characteristic factors for the N group and 12 for the M group. In the N group, the factors included tumor size, prothrombin time (PT), mean platelet volume, fibrinogen, platelet count, procalcitonin, carbohydrate antigen 15–3 (CA 15–3), carcinoembryonic antigen (CEA), adenosine deaminase, red blood cell distribution width, thrombin time, smoking history, and alcohol consumption history. In the M group, the factors included cytokeratin 19 fragment, tumor size, CEA, CA 15–3, squamous cell carcinoma antigen (SCCA), alkaline phosphatase, fibrinogen, hemoglobin, calcium, albumin, PT, and absolute monocyte count. The test cohort results indicated that the logistic regression model was optimal for both groups, achieving AUC values of 0.888 and 0.875, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The study demonstrated the potential of using ML algorithms, laboratory data, and clinical features to predict N involvement and skip N metastasis in lung cancer.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":"8 10","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12500416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238179","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}
引用次数: 0
Acinic Cell Carcinoma of the Breast: A Population-Based Clinicopathologic Study 乳腺腺泡细胞癌:一项基于人群的临床病理研究。
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-05 DOI: 10.1002/cnr2.70357
Faruk Skenderi, Giridhara Rathnaiah Babu, Una Glamoclija, Emir Veledar, Zoran Gatalica, Janez Lamovec, Semir Vranic

Purpose

Acinic cell carcinoma (ACC) of the breast is a very rare, primary salivary gland-type breast malignancy, with ~100 reported cases in the literature. Limited information about the clinical features and outcomes of patients with ACC is available.

Methods

We utilized the Surveillance, Epidemiology, and End Results (SEER) database to identify ACC patients. For comparison, we also examined a cohort of invasive breast carcinomas of no special type (NST).

Results

Thirty ACC patients were identified among the more than 248 000 invasive breast carcinoma NST patients. ACCs were predominantly grade 3 carcinomas (44%) and were diagnosed at an earlier stage (67%). Hormone receptor (HR) and HER2 status data were available for only 13 patients, revealing molecular heterogeneity: HR−/HER2− (four patients), HR−/HER2+ (two patients), HR+/HER2− (four patients), and HR+/HER2+ (three patients). The median survival time for ACC patients was 19 months vs. 48 months for NST patients (p < 0.001). A complete-case approach was utilized for the adjusted analyses, restricting the sample to 46 257 patients without missing data on all relevant covariates. The adjusted Kaplan–Meier analysis indicated a more pronounced decline in survival probabilities among patients with ACC compared to those with NST, with the number at risk in the ACC group diminishing to four patients by the 30-month mark. In contrast, NST patients exhibited a more gradual decrease. In the multivariable Cox regression, which adjusted for age, TNM stage, HR/HER2, and chemotherapy, ACC histology was correlated with a 1.69-fold increase in the hazard of death (HR: 1.69; 95% CI: 0.63–4.56), although this result was not statistically significant. Age and advanced stage continued to be strong predictors of poor survival, and the inclusion of an age–time interaction enhanced the model fit.

Conclusion

Acinic cell carcinoma of the breast is a very rare primary breast malignancy. Our study indicates potentially aggressive clinical behavior in mammary ACC; however, findings must be interpreted cautiously given inherent SEER limitations, especially regarding histologic and molecular subtyping accuracy. Further centralized studies are urgently needed for the accurate characterization of this rare entity.

目的:乳腺腺泡细胞癌(Acinic cell carcinoma, ACC)是一种非常罕见的原发性涎腺型乳腺恶性肿瘤,文献报道约100例。关于ACC患者的临床特征和预后的信息有限。方法:我们利用监测、流行病学和最终结果(SEER)数据库来识别ACC患者。为了比较,我们还研究了一组无特殊类型的浸润性乳腺癌(NST)。结果:在24.8万例浸润性乳腺癌NST患者中发现30例ACC患者。ACCs主要为3级癌(44%),早期诊断(67%)。只有13例患者的激素受体(HR)和HER2状态数据,揭示了分子异质性:HR-/HER2-(4例)、HR-/HER2+(2例)、HR+/HER2-(4例)和HR+/HER2+(3例)。ACC患者的中位生存时间为19个月,而NST患者的中位生存时间为48个月。我们的研究表明乳腺ACC具有潜在的侵袭性临床行为;然而,考虑到SEER固有的局限性,特别是在组织学和分子分型准确性方面,研究结果必须谨慎解释。迫切需要进一步的集中研究来准确地描述这种罕见的实体。
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引用次数: 0
Modification of Pathological Nodal Classification for pT1b Esophageal Squamous Cell Carcinoma With Lymphovascular Invasion: Over 10-Year Experience 伴有淋巴血管侵袭的pT1b型食管鳞状细胞癌病理结型的改变:超过10年的经验
IF 1.9 Q4 ONCOLOGY Pub Date : 2025-10-01 DOI: 10.1002/cnr2.70342
Jin-bo Li, Li-Hong Zhang, Chang-Sen Leng, Jun-Ying Chen, Jian-Hua Fu

Background

Lymphovascular invasion (LVI) adversely affects the survival of pT1b esophageal squamous cell carcinoma (ESCC). It is hypothesized that a modified stage classification of pT1b ESCC based on LVI may facilitate multidisciplinary therapy in LVI-positive patients.

Aims

The study aims to investigate the impact of LVI on pathological nodal classification for pT1b ESCC.

Methods and Results

Surgically resected pT1b ESCC patients in Sun Yat-sen University Cancer Center between 2008 and 2018 were retrospectively reviewed. Tumor sections were re-assessed for LVI by gastrointestinal pathologists. The associations between patient survival and LVI were evaluated by the Log-rank method. A multivariate Cox regression model was applied to identify the impact of LVI on survival. Prognostic performance was assessed by Harrell's C-index. A total of 424 cases with the pT1b stage were included. The risk of LVI was significantly higher in patients with nodal positive status (p < 0.001) and larger tumor size (p = 0.033). The 5-year OS for LVI+ patients were 50.3% versus 78.0% for LVI− (p < 0.001). Multivariable analyses suggested that LVI (p = 0.021) and pN (p = 0.016) stages were two independent adverse prognostic factors in pT1b patients. When classifying LVI+ as an independent subgroup into the pN category, the modified pN staging system demonstrated a superior prognostic performance (p < 0.001).

Conclusion

Tumors with LVI should be defined as a separate subclassification to accurately classify the prognostic category in pT1b patients. Further studies are required to investigate multidisciplinary therapies for LVI+ pT1b patients.

背景淋巴血管侵袭(LVI)对pT1b型食管鳞状细胞癌(ESCC)的生存有不利影响。假设基于LVI的pT1b ESCC的改良分期可能有助于LVI阳性患者的多学科治疗。目的探讨LVI对pT1b ESCC病理淋巴结分型的影响。方法与结果回顾性分析2008 - 2018年中山大学肿瘤中心手术切除的pT1b ESCC患者。胃肠道病理学家重新评估肿瘤切片的LVI。通过Log-rank方法评估患者生存与LVI之间的关系。采用多变量Cox回归模型确定LVI对生存率的影响。采用Harrell c指数评估预后。共纳入424例pT1b期病例。淋巴结阳性(p < 0.001)和肿瘤大小较大(p = 0.033)的患者发生LVI的风险明显较高。LVI+患者的5年OS为50.3%,LVI−患者为78.0% (p < 0.001)。多变量分析提示LVI (p = 0.021)和pN (p = 0.016)分期是pT1b患者的两个独立不良预后因素。当将LVI+作为一个独立的亚组划分到pN分类中时,改良的pN分期系统显示出更好的预后表现(p < 0.001)。结论为准确划分pT1b患者的预后类别,应将LVI肿瘤单独划分为一个亚分类。LVI+ pT1b患者的多学科治疗需要进一步的研究。
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引用次数: 0
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