睾丸混合性生殖细胞肿瘤1例

患者,男,29岁。主诉发现左侧睾丸肿物近3年,增长速度加快伴疼痛8个月余,于2010年10月18日入院。最初肿物体积如黄豆粒大小,无触痛,无坠胀感,不影响日常生活,之后肿物缓慢增大,但未给予重视和治疗。     

睾丸生殖细胞瘤基因组学研究进展

睾丸生殖细胞瘤(TGCT)是最常见的睾丸恶性肿瘤,发病率逐年升高。然而,睾丸肿瘤的发病原因及机制尚未明确,新兴的第2代测序技术(NGS)已成为TGCT发病机制研究的主流手段。本文将对多年来TGCT基因组学研究进行总结,以便从基因层面上揭示该肿瘤的发病机制。总结发现基因表达差异、基因突变、易感基因主导的信号通路及性染色体上相关基因的改变在TGCT发生、发展过程中起到重要作用。睾丸肿瘤的基因组学研究意义重大,找出关键致病基因,为从基因水平上早期诊断筛查及后续的靶向治疗提供理论基础。     

Is期睾丸混合性生殖细胞瘤不同治疗方法研究(附3例报告)

目的:本文旨在探讨Is期睾丸混合性生殖细胞瘤的不同治疗方法。方法:对2008年2月至2012年6月收治3例(年龄26~39岁)入院的Is期睾丸混合性生殖细胞瘤患者的临床资料进行回顾性分析和总结,并结合文献就该期肿瘤的临床特征进行探讨。结果:3例患者中1例只行根治性睾丸切除术,1例行根治性睾丸切除术+腹膜后淋巴结清扫术+BEP方案化疗,1例行根治性睾丸切除术+放疗。混合性生殖细胞瘤病理成分分别为左侧95%未成熟畸胎瘤、精原细胞瘤合并5%绒癌、胚胎性癌成分,左侧75%精原细胞瘤合并25%胚胎性癌、畸胎瘤成分,右侧90%成熟性畸胎瘤合并10%卵黄囊瘤。随访24个月3例患者肿瘤无局部复发和远处转移。结论:对于Is期睾丸混合性生殖细胞瘤诊断主要依靠体格检查、超声、MRI、血清肿瘤标记物测定等,确诊需要病理学检查,根治性睾丸切除术是其基础的治疗方法。     

睾丸混合性生殖细胞瘤1例

患者,男,17岁。因"左侧睾丸无痛性肿物1个月"于2011年10月31日入院。否认睾丸疾病史,体检未见异常发育,双侧乳房无肿大。腹部未触及肿块,双侧腹股沟淋巴结无肿大;左侧睾丸肿     

睾丸混合性生殖细胞瘤1例

患者 ,男 ,3 0岁。 1年前发现左侧睾丸肿大 ,质地软 ,无压痛。 3个月前出现左侧睾丸疼痛伴体积增大 ,左精索走行区压痛 ,予以抗感染治疗后疼痛消失 ,肿块仍未消除。门诊Ｂ超示精原细胞瘤 ,遂入院手术治疗。实验室检查 :ＡＦＰ 95 8.9μｇ/Ｌ(正常<3 0 μｇ/Ｌ) ,β ＨＣＧ 2 3ＩＵ/Ｌ(正常 <3 .0ＩＵ/Ｌ)。彩色多普勒示左侧睾丸有 6ｃｍ× 6ｃｍ类圆形实质性肿块 ,界清 ,内回声不均匀 ,有分隔 ,下方见一低回声欠均匀区 ,考虑有正常睾丸组织残留。病理检查 :一侧睾丸、附睾及部分精索切除标本。肿物大小 7ｃｍ× 6ｃｍ× 6ｃｍ ,切面呈灰白色…     

Survivin在睾丸生殖细胞瘤与无精子症患者睾丸组织中的表达

目的：探讨Survivin蛋白在睾丸生殖细胞瘤与无精子症患者睾丸组织中的表达情况及其临床意义。方法：采用免疫组织化学SABC法检测34例男性睾丸生殖细胞瘤和38例男性无精子症患者睾丸组织中Survivin蛋白的表达情况。结果：18例睾丸精原细胞瘤和16例非精原细胞瘤组织标本中Survivin蛋白的表达情况分别为88．9％和62．5％；在38例不同类型无精子症睾丸组织标本中，各组间Survivin蛋白的表达差异有统计学意义（P〈0．05），且表达情况与生精功能障碍严重程度呈负相关（r=-0．675，P〈0．05）。结论：在睾丸生殖细胞瘤和正常睾丸组织中可检测到Survivin蛋白的表达，Survivin蛋白可能是精子发生过程中的一个潜在标志物。     

Ⅰ期睾丸混合性生殖细胞瘤的诊断与治疗(附2例报告)

<正>过去的30年,睾丸肿瘤的发病率在西方主要工业国家为25/10万～92/10万[1],由于睾丸混合性生殖细胞瘤临床罕见,对其诊疗认知不足,有1/4患者从出现症状到睾丸切除,已延误治疗半年左右[2],我院2006年9月及2011年7月收治2例,结合文献讨论其诊疗方法。     

睾丸支持细胞瘤1例

患者，15岁。因左侧阴囊内无痛性肿物10余年于2000年10月7日入院。自幼被父母发现左侧阴囊内有一肿块，较小，未介意，肿块随年龄逐渐增大，无明显不适感。体检：外生殖器发育迟缓，阴茎短小呈婴儿型，尿道外口位置正常，双侧阴囊发育尚可。右侧睾丸扪诊大小正常，左侧睾丸约右侧     

丘脑-基底节区生殖细胞瘤的诊治

生殖细胞肿瘤是青少年中枢神经系统常见的恶性肿瘤,尤以亚洲国家多见,占儿童原发性神经系统肿瘤的5．4％（中国）-15．3％（日本）,其中男性多见,男女比例为4—5：1。丘脑-基底节区生殖细胞肿瘤在儿童中并非罕见,占颅内生殖细胞肿瘤的第三位,仅次于松果体区与鞍区。由于丘脑．基底节区是神经传导束密集区,此部位传统的手术方法往往易破坏传导束引起偏瘫等严重的并发症,造成生活质量的明显下降。     

成人睾丸良性占位病变的诊断与治疗选择(附16例报告)

目的 探讨成人睾丸良性占位病变的诊断与治疗选择.方法 对2003～2010年诊治的16例睾丸良性肿瘤的临床资料及随访情况进行回顾性分析.结果 16例睾丸肿瘤病例术前经超声、CT或MRI、AFP和β- HCG检查,诊断13例考虑为良性病变,3例可疑恶性.术中行冰冻切片检查10例,其中7例行睾丸部分切除术,3例性质不定行睾丸根治性切除术.6例未行术中病理检查直接行根治性睾丸切除.术后经病理诊断睾丸间质细胞瘤2例,成熟畸胎瘤4例,腺瘤样瘤3例,平滑肌瘤3例,皮样囊肿1例,混合肿瘤3例.术后随访2个月～12年均未出现复发及转移.结论 睾丸良性占位的术前诊断对手术处理方式选择非常重要,B超、CT或MRI、肿瘤标记物以及术中冰冻切片活检均具有临床诊断价值.睾丸良性肿瘤的治疗应首选保留睾丸的肿瘤切除.     

小儿睾丸卵黄囊瘤诊治分析

目的 探讨小儿睾丸卵黄囊瘤的诊治方法.方法 本组12例,年龄2个月～8岁.多以无痛性阴囊肿块就诊.术前常规进行血清AFP检查,胸片和(或)胸部CT检查,阴囊和腹膜后超声检查,睾丸MRI检查.术中冷冻病检了解肿瘤性质,决定手术方式.采用高位精索离断式睾丸切除,术后根据瘤体性质进行相应的化疗,必要时行腹膜后淋巴结清扫术.术后随访3个月～2年,监测血清AFP动态变化,并行阴囊、腹股沟、腹膜后超声检查和胸片检查.结果 本组12例,病理结果均为卵黄囊瘤.高位精索离断式睾丸切除11例,睾丸肿瘤剔除术1例.卵黄囊瘤Ⅰ期12例,10例术后化疗一个疗程,睾丸肿瘤剔除术1例术后拒绝化疗,1例因为经济困难未行化疗,术后6个月肝肺腹盆腔、骨骼转移、后腹膜淋巴结广泛转移压迫下腔静脉致布加氏综合征,放弃治疗;1例术后1个月复检AFP再次阳性,PET检查提示阴囊残留复发(再次手术),腹膜后转移1例,并行腹膜后淋巴结清扫.12例获随访,平均随访16个月.结论 卵黄囊瘤Ⅰ期宜行高位精索离断式睾丸切除术,Ⅱ期以上应考虑行腹膜后淋巴结清扫,术后宜配合化疗.     

原发性睾丸非精原细胞性生殖细胞肿瘤26例分析

目的：总结原发性睾丸非精原细胞性生殖细胞肿瘤(NSGCT)的诊断与治疗体会。方法：回顾性分析收治的26例NSGCT的临床资料。26例中，胚胎癌7例(26．9％)，畸胎瘤5例(19．2％)，卵黄囊瘤4例(15．4％)，绒毛膜上皮癌1例(3．9％)，混合性生殖细胞瘤(MGCT)9例(34．6％)。睾丸无痛性肿大为其主要临床表现。Ⅰ期16例，Ⅱ期8例，Ⅲ期2例。在根治性睾丸切除基础上采用腹膜后淋巴结清扫术及化疗等综合治疗措施。结果：22例获随访，随访时间6个月～6．5年，术后复发2例，2例死于全身广泛转移，其余患者均健康生存。结论：NSGCT中以MGCT及胚胎癌最为常见，B超、CT或MRI为其诊断和临床分期的主要手段。肿瘤标记物对肿瘤的治疗与及预后判断有一定参考价值。     

Reoperative retroperitoneal lymph-node dissection for testicular germ cell tumor

Purpose  We sought to discuss the indications for reoperative retroperitoneal surgery, preoperative evaluation of patients, distribution of retroperitoneal recurrences and technical considerations for reoperative procedures. In addition, the histologic findings, clinical outcomes and perioperative complications were reviewed. Methods  A PubMED and Medline search was performed to identify reoperative retroperitoneal surgery series for patients with nonseminomatous germ cell tumor. Results  A reliance on cisplatin-based chemotherapy to treat residual disease after RPLND is inadequate for most patients. If retroperitoneal failure does occur, reoperative RPLND should be considered as the recurrence can harbor viable GCT or teratoma, which both necessitate surgical excision. The left para-aortic and left renal hilar regions are the most common sites of retroperitoneal failure. Reoperative retroperitoneal surgery can be performed with an acceptable morbidity as long as surgeons are equipped to handle significant intraoperative complications. Clinical outcomes after reoperative RPLND are influenced by serum tumor markers, histologic findings and completeness of surgical resection. Conclusions  Overall survival rates in men requiring redo RPLND appear significantly lower than similar patients who are successfully treated with their initial RPLND. Given the potential complexity of this operation and its impact on a patient’s prognosis, reoperative RPLND surgery should be limited to specialized quaternary care centers.     

Clinical epidemiology of testicular germ cell tumors

Clinical epidemiology is sometimes called the basic science of clinical medicine. In terms of the pathogenesis of testicular germ cell tumors (GCTs), clinical epidemiology analyzes suspected risk factors. The present review highlights the risk factors established so far and briefly summarizes those factors currently under investigation. In analogy to the methods of evidence based medicine, this review attributes levels of evidence to each of the putative risk factors. Level I represents highest quality of evidence while level V denotes the lowest level. So far, undescended testis (UDT), contralateral testicular GCT and familial testis cancer are established risk factors attaining high levels of evidence (levels I–III a). In a meta-analysis of 21 studies exploring the association of UDT with GCT risk, an over-all relative risk (RR) of 4.8 (95% confidence interval 4.0–5.7) was found. Contralateral testicular GCT involves a roughly 25-fold increased RR of GCT, while familial testis cancer constitutes a RR of 3–10. Infertility, testicular atrophy, and twin-ship represent risk factors with lesser levels of evidence (level III a). There is also some evidence for HIV infection being a predisposing factor for GCT (level IV a). Scrotal trauma is probably not associated with GCT risk. The estrogen excess theory implies high estrogen levels during the first trimester of pregnancy. As a consequence, primordial germ cells lose track of the normal developmental line and transform into premalignant cells that later become testicular intraepithelial neoplasia (TIN), the precursor of full-blown testicular GCT. Surrogate parameters for high gestational estrogen levels are investigated in case control studies. Such factors are maternal age >30 years, first-born, low birth weight, maternal breast cancer, high sex-ratio of siblings. So far, the sum of evidence is promising but still conflicting (especially for level III b). Another novel theory is the childhood nutrition hypothesis. This concept postulates a modulating or catalyzing effect by high dietary intake during childhood on the pathogenesis of testicular GCT. A surrogate parameter of early childhood nutrition is adult height. So far, 12 controlled studies have looked to the possible association of attained height and GCT risk of which six demonstrated a significant association. Thus, the sum of evidence corresponds to level III b. This concept is appealing because it would explain several hitherto unexplained epidemiological features of GCT.     

睾丸混合性生殖细胞肿瘤临床病理分析

目的:探讨原发性睾丸混合性生殖细胞肿瘤(MGCT)的临床病理特征。方法:对我院13例原发性睾丸MGCT患者的临床病理资料进行回顾性分析,并结合相关文献进行讨论。结果:睾丸MGCT占我院同期睾丸生殖细胞肿瘤的24.1%(13/54),患者年龄2~53岁,平均28.3岁。全部病例均发生于单侧睾丸,左侧6例,右侧7例,左右侧比为0.86∶1。睾丸MGCT病理形态多样,肿瘤成分包括胚胎性癌(11例,84.6%)、精原细胞瘤(8例,61.5%)、畸胎瘤(6例,46.2%)、绒毛膜癌及卵黄囊瘤(均为4例,23.1%)。其中9例(69.2%)包含2种不同的生殖细胞肿瘤成分,3例(30.8%)包含3种不同的肿瘤成分,1例(7.7%)包含5种不同的肿瘤成分。结论:睾丸MGCT非常少见,好发于青壮年男性,不同的肿瘤成分其生物学行为、临床治疗和预后不同,因此准确的病理诊断非常必要,免疫组化标记对病理诊断与鉴别诊断具有重要作用。     

睾丸生殖细胞肿瘤12号染色体畸变及其临床意义

采用染色体Ｇ带的分析方法对３５例睾丸生殖细胞肿瘤进行了研究，初级细胞培养获得１０例异常核型。为观察，分析１２号染色体的畸变形式，将与１２号染色体畸变有关的核型及其临床资料进行比较，分析。结果表明，该染色体的畸变形式有：＋１２（７０％），ｉ（１２ｐ）（７０％），１２ｑ＾＋（５０％），１２ｑ＾－（２０％）。其中，非精原细胞瘤的＋１２，ｉ（１２ｐ）发生率明显高于精原细胞瘤（Ｐ＜０．０５，＜０．０１）。结     

双侧睾丸肿瘤的诊疗策略

目的探讨双侧睾丸肿瘤的临床特点及诊疗对策。方法回顾分析1980年1月至2004年12月收治10例双侧睾丸肿瘤患者的症状、体征、影像学、肿瘤标志物、治疗方式和病理资料。年龄19～58岁，平均34岁。双侧同时性癌2例，癌均为Ⅰ期病变。异时性癌8例，初发肿瘤Ⅰ期5例、Ⅱ期3例，对侧肿瘤Ⅰ期6例、Ⅱ期1例、Ⅲ期1例。初次肿瘤精原细胞瘤4例，对侧肿瘤精原细胞瘤3例。结果2例同时行双侧根治性睾丸切除术，8例先后行根治性睾丸切除术，后腹膜淋巴结清除术3例。术后10例出现不同程度的继发雄激素缺乏综合征，7例行雄激素替代疗法。10例随访9个月～23年，平均10，5年，死亡2例，转移2例（1例带瘤生存），局部复发2例，行肿瘤局部切除术。结论双侧睾丸肿瘤异时性多见，常见病理类型为精原细胞瘤，可以选择性行保留睾丸手术。     

Bilateral methachronous testicular germ cell tumor and testicular microlithiasis in a child: Genetic analysis and insights. A case report

ObjectivesTo report our experience with a case of a child with bilateral testicular micro-lithiasis (TML) who developed bilateral metachronous testicular germ cell tumor (TGCT) and determine the most appropriate follow-up and care management in children with testicular micro calcifications in regards to the theoretical risk of testicular cancer.Case reportA 12 year-old boy was diagnosed with TGCT and TML. Ten years after complete remission, he presented with a recurrence on the contralateral testis. Genetic screening was performed on both resected and the patient’s karyotype was analyzed.ResultsBlood karyotype was normal. Aberrations were found in the tumor karyotype. CGH array showed alterations in chromosome arm 12p.DiscussionTML is frequently associated with testicular malignancy in adults: in 16.9% of cases the normal contralateral testicle develops TML in TGCT. Recent works of literature find no relationship between TML and cancer in general, but in patients with additional risks, the relationship becomes stronger. Some authors suggest that environmental components and genetics are determinant factors. This is highly suspected in our reported case. It would seem that TML is not a precancerous lesion per se, but rather a marker of an at-risk situation. Long term evolution is uncertain and regular self-palpation that starts before puberty is the only way to ensure proper screening and monitoring.ConclusionTML have been suspected to be a sign of testicular dysgenesis syndrome, which yields a risk of developing TGCT in case of noxious associations.In patients with a history of TGCT contralateral TML is alarming and aggressive surgical management should be discussed. Therapeutic education of these patients on self-palpation is the best way to ensure proper follow-up.     

Late relapse of testicular germ cell tumors

The successful multidisciplinary approach for the management of germ cell tumors of the testis has resulted in survival rates of greater than 90% overall. While the majority of relapses in patients with germ cell tumors occur within the first 2 years of treatment, the incidence of late relapse beyond 2 years has been increasing over recent years. The pattern of late relapse suggests that an inadequately controlled retroperitoneum is a major predisposing factor, with up to 80% of late relapses occurring in the retroperitoneum. These tumors tend to be chemorefractory and overall prognosis for patients with late relapse of germ cell tumors is relatively poor, with survival rates of approximately 30% to 40%. In this review, we present the recent data regarding the clinical presentation, patterns of relapse, histologic findings, appropriate treatment options, and outcomes for men with late relapse of germ cell tumors.