Germ cell tumour

生殖细胞肿瘤
  • 文章类型: Case Reports
    生殖细胞肿瘤(GCT)是影响年轻成年男性的最常见恶性肿瘤。近几十年来,以顺铂为基础的化疗的引入已经显著改变了这些恶性肿瘤的预后,成为高度可治愈的癌症。即使在晚期疾病的背景下。然而,在过去的十年里,越来越多的人认识到这些化疗方案的重要晚期毒性,减缓了这些化疗方案治疗GCT的成功。比如心血管疾病。
    我们介绍一个23岁男性的案例,最近被诊断出患有混合性非精原细胞性睾丸生发肿瘤,在IIIA阶段(pT3cN2cM1a),腹膜后腺病和肺转移。在进行了右腹股沟睾丸切除术后,他开始用顺铂+依托泊苷进行化疗.开始治疗后不久,患者出现ST段抬高型急性冠脉综合征.心导管检查显示右冠状动脉中段有非闭塞性血栓。冠状动脉成像技术用于研究动脉壁,揭示了可能破裂的动脉粥样硬化斑块的存在,伴随血小板聚集和血栓形成的反应。在此事件发生后不到7个月,患者因肺血栓栓塞合并肺梗死再次入院.
    到目前为止,有两个假设将基于顺铂的化疗与心血管疾病之间的关联联系起来.直接假设认为存在直接化疗引起的血管损伤。间接假设,另一方面,是基于化疗对心血管危险因素的诱导和发展。化疗的这种心血管毒性因癌症诱导的促炎和血栓形成状态而加重。
    UNASSIGNED: Germ cell tumours (GCT) are the most common malignancy affecting young adult men. The introduction of cisplatin-based chemotherapy in recent decades has significantly changed the prognosis of these malignant tumours into highly curable cancer, even in the setting of advanced disease. However, in the last decade, the success of these chemotherapy regimens in curing GCTs has been slowed by a growing recognition of their important late toxicities, such as cardiovascular disease.
    UNASSIGNED: We present the case of a 23-year-old male, recently diagnosed with a mixed non-seminomatous testicular germinal tumour, on stage IIIA (pT3 cN2 cM1a), with retroperitoneal adenopathies and pulmonary metastases. After performing a right inguinal orchiectomy, he started chemotherapy treatment with cisplatin + etoposide. Shortly after starting treatment, the patient presented an ST-elevation acute coronary syndrome. The cardiac catheterization revealed a non-occlusive thrombus in the middle segment of the right coronary artery. Intracoronary imaging techniques were used to study the arterial wall, which revealed the presence of atherosclerotic plaque that could have ruptured, with the consequent response of platelet aggregation and thrombus formation. Barely 7 months after this event, the patient was again admitted to hospital for pulmonary thromboembolism with pulmonary infarction.
    UNASSIGNED: To date, there are two hypotheses linking the association between cisplatin-based chemotherapy and cardiovascular disease. The direct hypothesis argues for the presence of direct chemotherapy-induced vascular damage. The indirect hypothesis, on the other hand, is based on the induction and development of cardiovascular risk factors by chemotherapy. This cardiovascular toxicity of chemotherapy is aggravated by a cancer-induced proinflammatory and prothrombotic state.
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  • 文章类型: Journal Article
    畸胎瘤是由生殖细胞产生的肿瘤,包括来自两个或多个胚胎胚层的组织。包括外胚层,中胚层,和内胚层。这些肿瘤通常沿中线或旁正中位置定位,可以表现为性腺(20%)或性腺外(80%)实体。虽然性腺畸胎瘤并不常见,它们代表了儿科人群中性腺肿瘤的主要类型。它们包括女性中所有卵巢肿瘤的约20-25%和男性中所有睾丸肿瘤的约3-5%。卵巢畸胎瘤在儿童早期和青春期的发病率较高,而睾丸畸胎瘤在生命的前三个月和15至19岁之间更为普遍。虽然大多数小儿性腺畸胎瘤是良性的,也可能出现恶性或混合变异,需要更积极的治疗干预。
    Teratomas are neoplasms arising from germ cells and encompass tissues derived from two or more embryonic germ layers, including ectoderm, mesoderm, and endoderm. These tumours typically localize along the midline or in paramedian positions and can manifest as gonadal (20%) or extragonadal (80%) entities. Although gonadal teratomas are uncommon, they represent the predominant type of gonadal tumour in the paediatric population. They comprise approximately 20-25% of all ovarian tumours in females and about 3-5% of all testicular tumours in males. Ovarian teratomas exhibit a higher incidence in early childhood and adolescence, whereas testicular teratomas are more prevalent during the first three months of life and between the ages of 15 and 19. While the majority of paediatric gonadal teratomas are benign, malignant or mixed variants may also arise, necessitating more aggressive therapeutic interventions.
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  • 文章类型: Case Reports
    睾丸绒毛膜癌(CC)是睾丸生殖细胞肿瘤(GCT)的最罕见的亚型,具有高恶性潜能和早期血行转移。根治性手术切除应主要用于组织学诊断,而化疗仍然是晚期疾病治疗的主要手段。在本研究中,一名65岁的男性患者被诊断为转移性睾丸CC,据报道,谁对化疗没有完全反应。这个病人接受了睾丸肿瘤的手术切除,依托泊苷和顺铂化疗,和颅内病变的放射治疗。尽管化疗期间患者的血清人绒毛膜促性腺激素(HCG)水平和大多数转移灶持续下降,6个周期的化疗后未达到完全缓解.由于严重的副作用,患者拒绝大剂量化疗和自体干细胞移植,并最终在口服依托泊苷维持治疗后出现呼吸衰竭。然后进行了文献综述,目的总结睾丸CC的特点和治疗原则。此外,可用于GCTs维持治疗的新兴治疗剂,特别是对于睾丸CC,也进行了讨论。靶向治疗的有限临床试验显示,对于选择的GCTs患者的长期生存具有较少副作用的潜在益处。特别是,免疫疗法在临床前研究中显示了睾丸CC的独特潜力,为晚期疾病提供新的维持治疗方法。进一步的研究应阐明预测GCTs对基于免疫的治疗反应的预后因素的识别。
    Testicular choriocarcinoma (CC) is the rarest subtype of germ cell tumours (GCTs) of the testis, with a high malignant potential and early haematogenous metastasis. Radical surgical resection should be performed primarily for histological diagnosis, while chemotherapy remains the mainstay of therapy for advanced disease. In the present study, the case of a 65-year-old male patient diagnosed with metastatic testicular CC, who did not fully respond to chemotherapy is reported. This patient underwent surgical removal of the testicular tumour, chemotherapy with etoposide and cisplatin, and radiotherapy of the intracranial lesions. Although the serum human chorionic gonadotropin (HCG) levels of the patient and most of the metastases continued decreasing during chemotherapy, complete response was not achieved after six cycles of chemotherapy. The patient refused high-dose chemotherapy and autologous stem cell transplantation due to severe side effects, and eventually developed respiratory failure on maintenance therapy with oral etoposide. A literature review was then performed, aiming to summarize the characteristics and therapeutic principles of testicular CC. In addition, the emerging therapeutic agents that could be used in maintenance therapy for GCTs, particularly for testicular CC, were also discussed. The limited clinical trials of targeted treatments showed potential benefit for long survival of patients with selected GCTs with fewer side effects. In particular, immunotherapy showed unique potential for testicular CC in preclinical studies, offering new approaches of maintenance therapy for advanced disease. Further studies should shed light on the identification of prognostic factors that predict the response to immune-based therapy in GCTs.
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  • 文章类型: Journal Article
    本文将回顾组织病理学的当前方面,原发性纵隔生殖细胞肿瘤(PMGCT)及其病因的免疫组织化学和分子分析,流行病学,临床和治疗特点。PMGCT代表纵隔肿瘤的重要鉴别诊断,他们的诊断通常是在核心针活检的小组织样本上,结合诊断成像和血清肿瘤标志物。就像淋巴瘤一样,小活检通常是这些患者唯一可行的肿瘤样本,因为他们在最终手术切除之前接受化疗。因此,病理学家需要应用免疫组织化学标记的有效组合来确认PMGCT的诊断并排除形态学模拟。
    This article will review current aspects of the histopathological, immunohistochemical and molecular analysis of primary mediastinal germ cell tumours (PMGCTs) as well as their aetiological, epidemiological, clinical and therapeutic features. PMGCTs represent an important differential diagnosis in the spectrum of mediastinal tumours, and their diagnosis is usually made on small tissue samples from core needle biopsies in combination with diagnostic imaging and serum tumour markers. As in lymphomas, a small biopsy is often the only viable tumour sample available from these patients, as they receive chemotherapy prior to eventual surgical resection. Pathologists therefore need to apply an efficient combination of immunohistochemical markers to confirm the diagnosis of a PMGCT and to exclude morphological mimics.
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  • 文章类型: Review
    背景:本研究的目的是评估肿瘤大小和睾丸网浸润对I期睾丸精原细胞瘤患者无进展生存期的影响。还进行了文献综述。
    方法:进行回顾性观察性研究。我们纳入了2010年1月至2022年7月的I期精原细胞瘤患者。将无不良预后因素的A组患者与有不良预后因素的B组患者进行比较。使用Kaplan-Meier曲线和对数秩检验来比较这些组之间的无进展生存期(PFS)。在P≤0.05时考虑统计学显著性。
    结果:55例患者纳入本研究。20例(36.4%)患者预后良好-A组,35例(63.6%)患者预后不良-B组。两组的平均年龄相似(平均值±标准差),38.62±9.04年。平均随访时间为63.5±33.6个月。A组所有患者和B组25.7%的患者均接受了主动监测(AS)。B组患者中有26例(74.3%)接受了一个周期的卡铂治疗。3例腹膜后淋巴结复发(10.3%),他们都用三个周期的BEP治疗,与疾病的完全反应。A组和B组之间的PFS没有发现统计学上的显著差异(log秩P=.317)。
    结论:I期精原细胞瘤的个体化辅助治疗很重要,避免由此产生的不利影响。
    The aim of this study was to evaluate the impact of tumour size and rete testis invasion in progression free survival of our patients with stage I testicular seminoma. A literature review is also made.
    A retrospective observational study was performed. We included patients with stage I seminoma between January 2010 and July 2022. Patients without factors of poor prognostic -Group A- were compared with patients with factors of poor prognostic -Group B-. Kaplan-Meier curves and log-rank testing were used to compare progression free survival (PFS) between these groups. Statistical significance was considered at P≤.05.
    55 patients were included in this study. 20 patients (36.4%) were of good prognostic -Group A- and 35 (63.6%) had factors of poor prognostic -Group B-. The mean age was similar in both groups (mean±standard deviation), 38.62±9.04 years. The mean follow-up time was 63.5±33.6 months. All the patients in group A and 25.7% of the patients in group B underwent active surveillance (AS). 26 patients (74.3%) of the patients in Group B were treated with one cycle of adyuvant carboplatin. Three patients suffered a relapse with retroperitoneal lymph nodes (10.3%), all of them were treated with three cycles of BEP, with a complete response of the disease. No statistical significant differences were found in PFS between Group A and B (log Rank P=.317).
    Individualization of adjuvant treatment in stage I seminoma is important, avoiding the adverse effects derived from them.
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  • 文章类型: Case Reports
    睾丸生殖细胞肿瘤是年轻男性中最常见的恶性肿瘤。生殖细胞肿瘤可分为精原细胞瘤或非精原细胞瘤,每个都有不同的临床特征和治疗方法。生殖细胞肿瘤偶尔与体细胞型恶性肿瘤有关,特别是在辅助化疗后的转移性淋巴结。在这种情况下,腺癌和横纹肌肉瘤是最常见的恶性肿瘤。在这份报告中,我们介绍了一例37岁患者的独特病例,该患者出现了含有肾母细胞瘤成分的睾丸畸胎瘤.肿瘤表现出类似胎儿肾脏的特征性形态,并在免疫组织化学上表达核WT-1和PAX-8。手术后,患者选择了主动监测,并且保持无病.迄今为止,仅报道了7例原发性睾丸畸胎瘤中的肾母细胞瘤。此病例强调了在睾丸畸胎瘤的鉴别诊断中考虑这种罕见实体的重要性以及需要仔细的病理检查。
    Testicular germ cell tumours are the most common malignancies in young men. Germ cell tumours can be classified as seminomas or non-seminomas, each with different clinical features and treatment approaches. Germ cell tumours are occasionally associated with somatic-type malignancy, particularly in metastatic lymph nodes after adjuvant chemotherapy. Adenocarcinomas and rhabdomyosarcoma are the most common malignancies in this setting. In this report, we present a unique case of a 37-year-old patient who presented with a testicular teratoma containing a nephroblastoma component. The tumour exhibited characteristic morphology that resembled foetal kidney and expressed nuclear WT-1 and PAX-8 on immunohistochemistry. Following surgery, the patient opted for active surveillance and remains disease-free. To date, only 7 cases of nephroblastoma in primary testicular teratoma have been reported. This case highlights the importance of considering this rare entity in the differential diagnosis of testicular teratomas and the need for careful pathological examination.
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  • 文章类型: Systematic Review
    目的:睾丸生殖细胞肿瘤(GCT)是年轻男性中最常见的恶性肿瘤,所有病例中有三分之二表现为临床I期(CSI)。主动监测是当前指南最青睐的管理方式。这项系统评价评估了CSI患者的治疗结果,这些结果涉及非精原细胞瘤(NS)和纯精原细胞瘤(SE)的复发率和总体生存率,与辅助策略相比。
    UNASSIGNED:我们进行了系统的文献综述,将搜索范围限制在2010-2021年发表的最新研究中,这些研究报告了监测与辅助治疗的直接比较。我们搜索了Medline和Cochrane图书馆,并对参考文献列表进行了其他手动搜索,以确定相关研究。纳入研究的数据提取和质量评估采用组织学分层(NS与SE)和治疗方式。结果用描述性统计方法制表和评价。
    结果:34项研究符合纳入标准。在NS患者中,复发率为12%至37%,0到10%,0到11.8%用于监视,化疗和腹膜后淋巴结清扫术(RPLND),而总生存率为90.7-100%,91.7-100%,97-99.1%,分别。在SECSI中,复发率为0-22.3%,0-5%,0-12.5%用于监视,放射治疗,化疗,总生存率为84.1-98.7%,83.5-100%,92.3-100%,分别。
    结论:在两个组织学亚组中,主动监测提供与辅助管理策略几乎相同的总生存期,然而,以更高的复发率为代价。CSIGCT患者的每种管理策略都有特定的优点,建议共同决策以定制治疗。
    OBJECTIVE: Testicular germ cell tumours (GCTs) represent the most common malignancy in young adult males with two thirds of all cases presenting with clinical stage I (CSI). Active surveillance is the management modality mostly favoured by current guidelines. This systematic review assesses the treatment results in CSI patients concerning recurrence rate and overall survival in non-seminoma (NS) and pure seminoma (SE) resulting from surveillance in comparison to adjuvant strategies.
    UNASSIGNED: We performed a systematic literature review confining the search to most recent studies published 2010-2021 that reported direct comparisons of surveillance to adjuvant management. We searched Medline and the Cochrane Library with additional hand-searching of reference lists to identify relevant studies. Data extraction and quality assessment of included studies were performed with stratification for histology (NS vs. SE) and treatment modalities. The results were tabulated and evaluated with descriptive statistical methods.
    RESULTS: Thirty-four studies met the inclusion criteria. In NS patients relapse rates were 12 to 37%, 0 to 10%, and 0 to 11.8% for surveillance, chemotherapy and for retroperitoneal lymph node dissection (RPLND) while overall survival rates were 90.7-100%, 91.7-100%, and 97-99.1%, respectively. In SE CSI, relapse rates were 0-22.3%, 0-5%, and 0-12.5% for surveillance, radiotherapy, chemotherapy, while overall survival rates were 84.1-98.7%, 83.5-100%, and 92.3-100%, respectively.
    CONCLUSIONS: In both histologic subgroups, active surveillance offers almost identical overall survival as adjuvant management strategies, however, at the expense of higher relapse rates. Each of the management strategies in CSI GCT patients have specific merits and shared-decision-making is advised to tailor treatment.
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  • 文章类型: Journal Article
    未经证实:这篇综述的目的是描述睾丸生殖细胞肿瘤(tGCT)复发的比例,以及不同疾病阶段和不同治疗方案后复发的时间和解剖部位。我们总结了已发表的随访方案,并讨论了tGCT患者个性化随访的当前和未来发展。
    UNASSIGNED:进行了系统的文献检索,并审查了当前的指南和选定的机构随访方案。
    未经批准:在302种出版物中,我们筛选了68篇全文,纳入了29项研究;其中22项是回顾性的,7项是前瞻性的,为20570名患者提供数据。每个研究纳入的患者数量为119至2483。我们比较了欧洲医学肿瘤学会的指南随访方案,欧洲泌尿外科协会,国家综合癌症网络,和美国泌尿外科协会,以及机构后续行动协议。协议的数量不同,时间点,以及后续调查的类型。
    UNASSIGNED:未来的研究应评估如何遵循tGCT以确保高依从性,定义miR-371a-3pmicroRNA在随访中的作用,并制定转移性治疗后的随访方案。
    UNASSIGNED:在这篇关于男性睾丸癌随访方案的综述中,我们观察了不同的建议,并讨论了未来的研究领域,以改善这些患者的随访.
    UNASSIGNED: The aim of this review is to describe the proportion of testicular germ cell tumours (tGCTs) with recurrence, and the timing and anatomical sites of relapse across different disease stages and after different treatment options. We summarise published follow-up protocols and discuss current and future developments to personalise follow-up for patients with tGCT.
    UNASSIGNED: A systematic literature search was conducted and current guidelines and selected institutional follow-up protocols were reviewed.
    UNASSIGNED: Of 302 publications, we screened 68 full texts and included 29 studies; 22 of these were retrospective and seven were prospective in nature, contributing data for 20 570 patients. The number of patients included per study ranged from 119 to 2483. We compared the guideline follow-up protocols of the European Society for Medical Oncology, European Association of Urology, National Comprehensive Cancer Network, and American Urological Association, as well as institutional follow-up protocols. The protocols differed in terms of the number, time points, and type of follow-up investigations.
    UNASSIGNED: Future research should assess how tGCT can be followed to ensure high adherence, define the role of miR-371a-3p microRNA during follow-up, and develop follow-up protocols after curative treatment in the metastatic setting.
    UNASSIGNED: In this review of follow-up protocols for men with testis cancer, we observed different recommendations and discuss future research areas to improve follow-up for these patients.
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  • 文章类型: Journal Article
    目的:本系统综述和荟萃分析旨在探讨国际上过去20年的总体生存率(OS)和无事件生存率(EFS),并定义可能需要不同治疗策略的不良结局的特定亚组。
    方法:搜索集中在儿科人群中的恶性颅外生殖细胞肿瘤(GCT)。最初的数据库搜索确定了12,556篇文章;最终有32篇文章被纳入这篇综述,共5095名患者。
    结果:这些研究是异质的,从单一机构报告到大型前瞻性试验。较旧的研究,描述使用非铂类化疗方案的时代,明显显示出更糟糕的结果。I-II期性腺疾病的存活率是极好的。另一方面,初始甲胎蛋白(AFP)>10,000ng/mL或kU/L的患者,年龄>11岁和IV期疾病赋予生存劣势。特别是对于睾丸疾病,淋巴血管浸润和某些组织病理学亚型,如胚胎癌(EC)和混合恶性GCTs,生存更差。骶尾部和纵隔GCTs的生存数据显示在本综述的研究中分布不均。独立于出版年份。纵隔GCT表现为>12岁的患者构成的亚群比其他位置或年龄组的GCT更差。这与AFP水平无关,疾病阶段或治疗方案,这些患者可能需要不同的治疗策略。
    结论:这篇综述描述了GCT在不同解剖位置的异质性,影响演示文稿的舞台,使用的治疗方式和生存数据。尽管存在这种异质性,根据当前基于发育生物学的分类系统,可以定义具有较差的EFS和OS的亚群,并且未来的研究和更个性化的治疗将有助于提高生存率。
    OBJECTIVE: This systematic review and meta-analysis was performed to explore overall survival (OS) and event free survival (EFS) rates internationally over the past two decades and to define specific subgroups with inferior outcomes which may demand different treatment strategies.
    METHODS: The search focused on malignant extracranial germ cell tumours (GCTs) in the paediatric population. The initial database search identified 12,556 articles; 32 articles were finally included in this review, comprising a total of 5095 patients.
    RESULTS: The studies were heterogeneous, varying from single institution reports to large prospective trials. Older studies, describing eras where non-platinum-based chemotherapy regimens were used, showed clearly worse outcomes. Survival for stage I-II gonadal disease is excellent. On the other hand, patients with an initial alpha-fetoprotein (AFP) > 10,000 ng/mL or kU/L, age > 11 years and stage IV disease confer a survival disadvantage. For testicular disease in particular, lymphovascular invasion and certain histopathological subtypes, such as embryonal carcinoma (EC) and mixed malignant GCTs, survival is poorer. Survival data for sacrococcygeal and mediastinal GCTs show a heterogeneous distribution across studies in this review, independent of year of publication. Patients > 12 years presenting with a mediastinal GCT pose a subpopulation which fares worse than GCTs in other locations or age groups. This is independent of AFP levels, stage of disease or treatment protocol, and these patients may demand a different treatment strategy.
    CONCLUSIONS: This review describes the heterogeneous nature of GCTs in different anatomical locations, impacting on stage at presentation, treatment modalities used and survival data. Despite this heterogeneity, in line with the current developmental biology-based classification system, subpopulations can be defined which have an inferior EFS and OS and where future research and more individualised treatment would help to improve survival.
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  • 文章类型: Journal Article
    OBJECTIVE: Sacrococcygeal teratoma (SCT) is a rare extragonadal germ cell tumour mostly diagnosed during infancy and early childhood. Neonatal SCTs are mostly mature, but can also contain immature and/or malignant components. Recurrence of an SCT alters prognosis, especially when it is malignant, of which its mechanism is not yet fully understood. This study is a review and meta-analysis of the literature on malignant recurrences after an initially mature SCT.
    METHODS: A literature search was performed to identify studies describing children with SCT and presenting specific information on histology of the initial tumour as well as the recurrence. Random effect models for mature recurrence and malignant recurrence after an initially mature SCT were employed to pool study-specific percentages in order to estimate an overall percentage and its associated 95 % confidence intervals (CI). Inverse variance method, which gives more weight to larger studies, was used to pool outcomes for the different studies.
    RESULTS: A total of 22 articles, comprising 1516 patients with SCT, were included in the meta-analysis. The pooled proportions of mature and malignant recurrences after mature SCT were 3 % (95 % CI 1-4 %) and 5% (95 % CI 3-6 %), respectively. Fifty-seven (56 %) of a total of 102 recurrences after resection of an initially mature SCT were malignant, mostly yolk sac tumour (YST). Many recurrences occurred within 1-6 years, however some occurred as long as 20 years after initial diagnosis.
    CONCLUSIONS: A substantial number of recurrences of mature SCT present as a malignant tumour. Overlooking malignant components on initial pathological evaluation and the progression of mature SCT cells to malignant cells may play a role. Treatment of mature SCTs with resection alone requires thorough follow-up of at least 6 years. Future research is needed to determine whether SCTs with malignant microfoci should be treated or followed-up differently from mature or immature SCTs. In addition, the value of serum biomarkers in follow-up after SCT needs to be further evaluated.
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