multiple primary malignancies

多发性原发性恶性肿瘤
  • 文章类型: Journal Article
    甲状腺癌的发病率在全球范围内呈上升趋势,儿童暴露于辐射是其出现的唯一公认的催化剂。尽管如此,许多其他可能构成风险的因素正在等待彻底的检查和验证。这项回顾性研究旨在探讨与甲状腺癌相关的恶性肿瘤,并对比患有孤立性肿瘤的人与患有多原发性肿瘤(MPN)的人的生存率。
    这项回顾性研究检查了侯赛因国王癌症中心(KHCC)的数据,乔丹。在563名诊断为甲状腺癌的患者中,30例患者患有甲状腺恶性肿瘤作为MPN的一部分。对于1:3的倾向得分匹配分析,还纳入了90例仅患有原发性甲状腺恶性肿瘤的患者。
    血液和乳腺恶性肿瘤是除甲状腺肿瘤外最常见的癌症。患有MPN的患者在年龄较大时被诊断出,体重指数较高,甲状腺球蛋白抗体水平较高(每次p<0.05)。此外,MPN患者表现出更强的癌症家族史(p=0.002)。135个月的中位随访时间显示,与单发肿瘤患者相比,MPN患者的5年生存率较差(分别为87%和100%;p<0.01)。然而,两组的5年无事件生存率无差异.
    MPN与甲状腺癌患者的生存结果显著改变相关。老年甲状腺癌的诊断,伴有升高的初始甲状腺球蛋白抗体水平和显著的家族性倾向,可能会引起人们对同步或异时性肿瘤的潜在发生的担忧。
    UNASSIGNED: The incidence of thyroid cancer is on the rise worldwide, with childhood exposure to radiation being the sole acknowledged catalyst for its emergence. Nonetheless, numerous other factors that may pose risks are awaiting thorough examination and validation. This retrospective study aims to explore the malignancies linked to thyroid cancer and contrast the survival rates of those afflicted with a solitary tumor versus those with multiple primary neoplasms (MPN).
    UNASSIGNED: This retrospective study examined data from King Hussein Cancer Center (KHCC), Jordan. Among 563 patients diagnosed with thyroid cancer, 30 patients had thyroid malignancy as part of MPN. For a 1:3 propensity score-matched analysis, 90 patients with only a primary thyroid malignancy were also enrolled.
    UNASSIGNED: Hematologic and breast malignancies were among the most frequent observed cancers alongside thyroid neoplasm. Patients who had MPN were diagnosed at older age, had higher body mass index and presented with higher thyroglobulin antibody levels (p < 0.05 for each). Additionally, MPN patient displayed a stronger family history for cancers (p= 0.002). A median follow-up duration of 135 months unveiled that MPN patients faced a worse 5-year survival compared to their counterparts with a singular neoplasm (87% vs 100% respectively; p < 0.01). However, no distinction emerged in the 5-year event-free survival between these two groups.
    UNASSIGNED: MPN correlates with a significantly altered survival outcome of thyroid cancer patients. The diagnosis of thyroid carcinoma at an older age, accompanied by elevated initial thyroglobulin antibody levels and a notable familial predisposition, may raise concerns about the potential occurrence of synchronous or metachronous tumors.
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  • 文章类型: Journal Article
    CHEK2被认为参与同源重组修复(HRR)。在CHEK2中具有种系致病变异体(gPV)的个体患乳腺癌和可能的其他原发性癌症的风险增加。PARP抑制剂(PARPi)已被证明可有效治疗HRR缺乏的癌症。例如由BRCA1/2失活引起的。然而,临床试验显示,PARPi对CHEK2gPV患者几乎没有疗效.这里,我们表明,CHEK2双等位基因gPV(种系CHEK2缺乏症)患者的乳腺癌和非乳腺癌均未出现符合HRR缺乏症的分子谱.这一发现提供了一个可能的解释,为什么PARPi疗法不能成功治疗CHEK2缺陷型癌症。
    CHEK2 is considered to be involved in homologous recombination repair (HRR). Individuals who have germline pathogenic variants (gPVs) in CHEK2 are at increased risk to develop breast cancer and likely other primary cancers. PARP inhibitors (PARPi) have been shown to be effective in the treatment of cancers that present with HRR deficiency-for example, caused by inactivation of BRCA1/2. However, clinical trials have shown little to no efficacy of PARPi in patients with CHEK2 gPVs. Here, we show that both breast and non-breast cancers from individuals who have biallelic gPVs in CHEK2 (germline CHEK2 deficiency) do not present with molecular profiles that fit with HRR deficiency. This finding provides a likely explanation why PARPi therapy is not successful in the treatment of CHEK2-deficient cancers.
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  • 文章类型: Journal Article
    随着胰腺癌(PC)切除术后生存率的提高,关于异时肿瘤的风险和模式的问题出现。我们旨在确定术后PC幸存者中多原发癌的发生率。
    在监测中确定了1975年至2020年接受PC手术的患者,流行病学,和结束结果(SEER)注册表。标准化发病率(SIR)比较了基于美国人口比率的观察到的预期癌症。用Cox回归分析继发性肿瘤的累积发生率,用Kaplan-Meier曲线分析癌症特异性存活。
    在6100例切除的PC患者中,267(4.38%)在6.2年的中位随访期内发展为多种癌症。随后的恶性肿瘤显示超过5年的累积发病率上升。在男性(n=36,SIR1.87)和女性(n=32,SIR2.17)中,肺癌是主要的第二原发性肺癌。前列腺癌(n=33)和乳腺癌(n=25)也很常见。风险因潜伏期和性别而异。
    术后PC患者面临可测量的继发性癌症风险。加强长期监测有可能改善这一幸存者群体的早期发现和结果。我们的数据提供了现实世界的证据,可以帮助在未来的监测指南。
    UNASSIGNED: With improving survival after pancreatic cancer (PC) resection, questions emerge concerning risk and patterns of metachronous tumors. We aimed to determine the incidence of multiple primary cancers among postoperative PC survivors.
    UNASSIGNED: Patients undergoing PC surgery from 1975 to 2020 were identified in the Surveillance, Epidemiology, and End Results (SEER) registry. Standardized incidence ratios (SIRs) compared observed-to-expected cancers based on U.S. population rates. Cumulative incidence of secondary tumors was analyzed with Cox regression and cancer-specific survival with Kaplan-Meier curves.
    UNASSIGNED: Of 6,100 resected PC patients, 267 (4.38%) developed multiple cancers over 6.2 years median follow-up period. Subsequent malignancies showed a rising cumulative incidence extending beyond 5 years. Lung cancer was the predominant second primary in both males (n=36, SIR 1.87) and females (n=32, SIR 2.17). Prostate (n=33) and breast (n=25) cancers were also common. Risk varied by latency period and gender.
    UNASSIGNED: Postoperative PC patients face a measurable risk for secondary cancers. Enhanced long-term surveillance has the potential to improve early detection and outcomes in this survivor population. Our data provides real-world evidence which could help inform surveillance guidelines in the future.
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  • 文章类型: Case Reports
    在这里,我们报告了一个成功的病例,即常规小肠内镜检查因肠扭转而失败后,通过乙状结肠通过EUS-FNB获得的小肠病变。该病例强调了EUS-FNB在通过乙状结肠获取小肠病变中的可行性。
    Here we report a successful case of a small bowel lesion obtained through EUS-FNB via the sigmoid colon after routine small bowel endoscopy failed due to bowel volvulus. This case highlights the feasibility of EUS-FNB in small intestine lesion acquisition through sigmoid colon.
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  • 文章类型: Journal Article
    目的:具有双等位基因CHEK2种系致病变异体(gPV)的女性比具有单等位基因CHEK2gPV的个体更常发生多发性乳腺癌。这项研究旨在扩大对其他恶性肿瘤发生的认识。
    方法:对发展为多种原发性恶性肿瘤的个体进行外显子组测序,鉴定出3名具有双等位基因状态的CHEK2(NM_007194.4)c.1100delp.(Thr367MetfsTer15)功能丧失gPV的个体。我们收集了另外一组具有CHEK2双等位基因gPV的个体的表型(n=291)。
    结果:总计,157名个体(53.4%;157/294名个体)发展为≥1(前)恶性肿瘤。除乳腺癌外,最常见的(前)恶性肿瘤是结肠直肠-(n=19),甲状腺(n=19),和前列腺(前)恶性肿瘤(n=12)。与CHEK2c.470T>Cp.(Ile157Thr)错义变异的双等位基因女性相比,具有双等位基因CHEK2功能丧失gPV的女性更频繁地发展≥2(前)恶性肿瘤,并且年龄较早。此外,患有CHEK2双等位基因gPV的26名男性(31%;26/84名男性)发展出≥1(前)15种恶性肿瘤。
    结论:我们的研究表明,CHEK2双等位基因gPV可能会增加各种组织中发生多种恶性肿瘤的易感性,无论是女性还是男性。然而,有相当比例的CHEK2双等位基因gPV患者可能被漏诊,因为CHEK2的诊断检测通常仅限于发生乳腺癌的患者.
    Females with biallelic CHEK2 germline pathogenic variants (gPVs) more often develop multiple breast cancers than individuals with monoallelic CHEK2 gPVs. This study is aimed at expanding the knowledge on the occurrence of other malignancies.
    Exome sequencing of individuals who developed multiple primary malignancies identified 3 individuals with the CHEK2 (NM_007194.4) c.1100del p.(Thr367MetfsTer15) loss-of-function gPV in a biallelic state. We collected the phenotypes of an additional cohort of individuals with CHEK2 biallelic gPVs (n = 291).
    In total, 157 individuals (53.4%; 157/294 individuals) developed ≥1 (pre)malignancy. The most common (pre)malignancies next to breast cancer were colorectal- (n = 19), thyroid- (n = 19), and prostate (pre)malignancies (n = 12). Females with biallelic CHEK2 loss-of-function gPVs more frequently developed ≥2 (pre)malignancies and at an earlier age compared with females biallelic for the CHEK2 c.470T>C p.(Ile157Thr) missense variant. Furthermore, 26 males (31%; 26/84 males) with CHEK2 biallelic gPVs developed ≥1 (pre)malignancies of 15 origins.
    Our study suggests that CHEK2 biallelic gPVs likely increase the susceptibility to develop multiple malignancies in various tissues, both in females and males. However, it is possible that a substantial proportion of individuals with CHEK2 biallelic gPVs is missed as diagnostic testing for CHEK2 often is limited to individuals who developed breast cancer.
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  • 文章类型: Case Reports
    背景:多原发恶性肿瘤(MPMNs)的患病率与恶性肿瘤的发病率同时增加,诊断模型的持续改进,延长肿瘤患者的寿命,尤其是那些消化系统。然而,MPMNs与十二指肠腺癌(DA)并存的报道很少.此外,缺乏关于多组学和肿瘤微环境(TME)的MPMNs的综合分析。
    方法:在本文中,我们报告一例56岁的男性,主诉胸部不适和腹胀。患者在肿瘤科诊断为异时食管鳞状细胞癌和DA。他接受了食管肿瘤的根治性切除和化疗,以及化疗联合程序性死亡-1抑制剂治疗十二指肠肿瘤。总生存期为16.6mo。对原发性和转移性肿瘤的多组学和微环境特征进行了广泛评估,以:(1)确定在这种情况下导致不良预后和治疗耐药性的原因;(2)为MPMNs提供新的诊断和治疗方法。这种情况表明,第二种恶性肿瘤的发展可能与第一种肿瘤的位置无关。因此,为了准确诊断MPMNs,应将肿瘤复发(包括转移)与第二原发灶区分开来.
    结论:多组学特征和TME可能有助于治疗选择,提高疗效,并辅助预测预后。
    BACKGROUND: The prevalence of multiple primary malignant neoplasms (MPMNs) is increasing in parallel with the incidence of malignancies, the continual improvement of diagnostic models, and the extended life of patients with tumors, especially those of the digestive system. However, the co-existence of MPMNs and duodenal adenocarcinoma (DA) is rarely reported. In addition, there is a lack of comprehensive analysis of MPMNs regarding multi-omics and the tumor microenvironment (TME).
    METHODS: In this article, we report the case of a 56-year-old man who presented with a complaint of chest discomfort and abdominal distension. The patient was diagnosed with metachronous esophageal squamous cell carcinoma and DA in the Department of Oncology. He underwent radical resection and chemotherapy for the esophageal tumor, as well as chemotherapy combined with a programmed death-1 inhibitor for the duodenal tumor. The overall survival was 16.6 mo. Extensive evaluation of the multi-omics and microenvironment features of primary and metastatic tumors was conducted to: (1) Identify the reasons responsible for the poor prognosis and treatment resistance in this case; and (2) Offer novel diagnostic and therapeutic approaches for MPMNs. This case demonstrated that the development of a second malignancy may be independent of the location of the first tumor. Thus, tumor recurrence (including metastases) should be distinguished from the second primary for an accurate diagnosis of MPMNs.
    CONCLUSIONS: Multi-omics characteristics and the TME may facilitate treatment selection, improve efficacy, and assist in the prediction of prognosis.
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  • 文章类型: Published Erratum
    [这更正了文章DOI:10.3389/fonc.2023.1205358。].
    [This corrects the article DOI: 10.3389/fonc.2023.1205358.].
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  • 文章类型: Case Reports
    多发性原发性恶性肿瘤(MPM)被定义为同一个体中的两种或更多种组织病理学上不同的恶性肿瘤。当肿瘤在彼此的六个月内被诊断出时,MPM被分类为同步的。MPM中最常见的恶性肿瘤是黑色素瘤,乳房,肺,和前列腺癌。同步淋巴瘤和实体瘤相对罕见。在这些情况下,多学科的治疗方法至关重要。早期发现其他原发性恶性肿瘤,例如骨髓和淋巴肿瘤,将能够迅速进行治疗。作者介绍了一例弥漫性B细胞非霍奇金淋巴瘤和浸润性小叶乳腺癌,表现为乳糜性胸腔积液。
    Multiple primary malignancies (MPMs) are defined as two or more histopathologically distinct malignancies in the same individual. MPMs are classified as synchronous when tumors are diagnosed within six months of each other. The most common malignancies in MPMs are melanoma, breast, lung, and prostate cancer. Synchronous lymphoma and solid tumors are relatively rare. In these cases, a multi-disciplinary approach to treatment is essential. The early detection of additional primary malignancies such as myeloid and lymphatic tumors will enable prompt management with curative intent. The authors present a case of diffuse B-cell non-Hodgkin lymphoma and invasive lobular breast carcinoma presented as a chylous pleural effusion.
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  • 文章类型: Case Reports
    乳腺癌和非霍奇金淋巴瘤的同时发生是一种罕见的疾病,具有诊断和治疗挑战。先前尚未描述滤泡性淋巴瘤(FL)和三阴性乳腺癌(TNBC)的共存。
    一个46岁的女人,已经遭受了未经治疗的历史,高级阶段,高肿瘤负荷FL,因快速进展的右乳房肿块入院。超声检查显示右乳有8.3×3.6×4.1cm的基底肿块,双侧腋窝淋巴结肿大(LNs)。PET-CT显示右乳腺肿块18F-FDG活性增加,隔膜两侧的LN,脾脏肿大,还有骨髓.右侧乳腺肿块活检显示TNBC。患者接受了R-CHOP的新辅助治疗,并获得了乳腺肿瘤的部分缓解。然而,TNBC在R-CHOP三个周期后进展。根据对乳腺肿块的下一代测序(NGS)分析,同源重组修复(HRR)缺陷(HRD)评分为72,新辅助方案改为利妥昔单抗加nab-紫杉醇和顺铂(R-TP),并导致明显的肿瘤消退。然后,患者接受了右乳房切除术,并进行了腋窝LN解剖。手术后,对患者进行定期监测,并给予R-TP和放疗辅助治疗.
    FL和HRD阳性TNBC的共存带来了诊断和治疗的挑战。基于多学科团队(MDT)讨论和NGS的有充分依据的新辅助策略在这种情况下保证了良好的结果。
    UNASSIGNED: Co-occurrence of breast cancer and non-Hodgkin\'s lymphoma is a rare condition with diagnostic and therapeutic challenges. The coexistence of follicular lymphoma (FL) and triple-negative breast cancer (TNBC) has not been described previously.
    UNASSIGNED: A 46-year-old woman, already suffering a history of untreated, advanced-stage, high tumor burden FL, was admitted for a rapidly progressing right breast mass. Ultrasonography showed an 8.3 × 3.6 × 4.1 cm fungating mass in the right breast with enlarged lymph nodes (LNs) in bilateral axillae. PET-CT demonstrated increased 18F- FDG activity in right breast mass, LNs on both sides of the diaphragm, enlarged spleen, and bone marrow. Biopsy of the right breast mass revealed TNBC. The patient underwent neoadjuvant therapy with R-CHOP and achieved partial response of breast tumor. However, TNBC progressed after three cycles of R-CHOP. According to the next-generation sequencing (NGS) assay on breast mass showing a homologous recombination repair (HRR) deficiency (HRD) score of 72, the neoadjuvant regimen was changed to rituximab plus nab-paclitaxel and cisplatin (R-TP) and resulted in significant tumor regression. The patient then underwent right mastectomy with an axillary LN dissection. After the surgery, she was regularly monitored and given adjuvant therapy with R-TP and radiotherapy.
    UNASSIGNED: The coexistence of FL and HRD-positive TNBC poses diagnostic and treatment challenges. Well-founded neoadjuvant strategy based on multidisciplinary team (MDT) discussion and NGS warranted a good outcome in this case.
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  • 文章类型: Journal Article
    目的:胃癌合并多原发恶性肿瘤(GCM)越来越常见。本研究调查了GCM的临床特征和生存时间。
    方法:从监测中选择仅GCM和GC(GCO)的患者,流行病学和最终结果(SEER)数据库。使用倾向评分匹配比较GCM和GCO组之间的生存率。然后,GCM组分为训练队列和验证队列.这些队列用于建立GCM患者生存预测的列线图。
    结果:GCM组的生存时间明显长于GCO组。所有子集回归用于确定列线图建立的四个变量:年龄,胃癌序列,N级,和手术。一致性指数和随时间变化的受试者工作特性曲线表明,列线图具有良好的判别能力。预测和实际概率的校准图在训练和验证队列中均显示出良好的一致性。决策曲线分析和风险分层表明,列线图在临床上有用;它具有良好的辨别能力,可以识别具有不同风险水平的患者。
    结论:与GCO相比,GCM是一种相对惰性的恶性肿瘤。在这项研究中开发的列线图可以帮助临床医生评估GCM预后。
    OBJECTIVE: Gastric cancer combined with multiple primary malignancies (GCM) is increasingly common. This study investigated GCM clinical features and survival time.
    METHODS: Patients with GCM and GC only (GCO) were selected from the Surveillance, Epidemiology and End Results (SEER) database. Survival was compared between GCM and GCO groups using propensity score matching. Then, the GCM group was divided into a training cohort and a validation cohort. These cohorts were used to establish a nomogram for survival prediction in patients with GCM.
    RESULTS: Survival time was significantly longer in the GCM group than in the GCO group. All-subsets regression was used to identify four variables for nomogram establishment: age, gastric cancer sequence, N stage, and surgery. The concordance index and time-dependent receiver operating characteristic curve indicated that the nomogram had favorable discriminative ability. Calibration plots of predicted and actual probabilities showed good consistency in both the training and validation cohorts. Decision curve analysis and risk stratification showed that the nomogram was clinically useful; it had favorable discriminative ability to recognize patients with different levels of risk.
    CONCLUSIONS: Compared with GCO, GCM is a relatively indolent malignancy. The nomogram developed in this study can help clinicians to assess GCM prognosis.
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