spermatocytic tumor

精母细胞肿瘤
  • 文章类型: Journal Article
    精母细胞肿瘤是罕见的睾丸肿瘤,主要发生在老年男性。大多数表现出经典的三方形态(不同于精原细胞瘤),并且是良性的。然而,有据可查的恶性精原细胞肿瘤病例。我们以前的工作表明,一个子集的精母细胞肿瘤表现出TP53突变,DNA甲基化谱更接近精原细胞瘤,和/或染色体12p的增益表现出侵袭性特征,包括肉瘤样转化和转移性播散。microRNA-371-373簇是一种有前途的生物标志物,在具有恶性行为的非畸胎瘤生殖细胞肿瘤中上调。在这项工作中,我们通过定量实时聚合酶链反应在18个代表整个临床谱的精母细胞肿瘤中分析microRNAs-371-373,包括6个具有侵袭性特征(肉瘤样转化,转移,或染色体12p的增益)。microRNAs-371-373的水平在非畸胎瘤生殖细胞肿瘤中明显高于精母细胞肿瘤,总体(p<0.0001)。重要的是,在具有侵袭性特征的精母细胞肿瘤中,microRNA-371-373的水平高于非侵袭性肿瘤.在一个显示同染色体12p的肿瘤中观察到最高水平。这些结果进一步支持了我们先前的发现,即精母细胞肿瘤的一个子集介于所谓的II型和III型生殖细胞肿瘤之间,并且胚胎microRNA在精母细胞肿瘤的攻击行为中起作用。因此,这部分肿瘤可能表现为侵袭性,需要密切随访.在未来,这为精母细胞肿瘤患者血清中的microRNA检测提供了机会,以进行危险分层.
    Spermatocytic tumors are rare testicular tumors occurring predominantly in older men. Most show a classical tripartite morphology (different from seminoma) and are benign. However, well-documented cases of malignant spermatocytic tumors exist. Our previous work showed that a subset of spermatocytic tumors exhibiting TP53 mutations, DNA methylation profiles closer to seminomas, and/or gains in chromosome 12p exhibited aggressive characteristics, including sarcomatoid transformation and metastatic dissemination. The microRNA-371-373 cluster is a promising biomarker which is upregulated in non-teratoma germ cell tumors with malignant behavior. In this work we analyze microRNAs-371-373 b y quantitative real-time polymerase chain reaction in 18 spermatocytic tumors representative of the whole clinical spectrum, including 6 with aggressive features (sarcomatoid transformation, metastases, or gains in chromosome 12p). The levels of microRNAs-371-373 were significantly higher in non-teratoma germ cell tumors compared to spermatocytic tumors, overall (p < 0.0001). Importantly, levels of microRNA-371-373 were higher in spermatocytic tumors with aggressive features compared to non-aggressive neoplasms. The highest levels were observed in one tumor showing isochromosome 12p. These results further support our previous findings that a subset of spermatocytic tumors are intermediate between so-called type II and type III germ cell tumors and that embryonic microRNAs play a role in aggressive behavior in spermatocytic tumors. Accordingly, this subset of tumors may behave aggressively and require close follow up. In the future, this opens an opportunity for microRNA testing in serum of spermatocytic tumor patients for risk stratification purposes.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    隐睾,一个或两个睾丸不能下降到阴囊,和睾丸癌在狗和人类中显示出很强的相关性。然而,关于未降睾丸的位置是否直接导致人类睾丸癌,或者这两种疾病是否源于共同起源,医学争论由来已久。虽然睾丸癌是狗的常见病,在这个物种中,人们对它的原因以及与睾丸下降的相关性知之甚少。这篇综述调查了狗的这两种疾病之间的关系,从人类研究中汲取见解,并检查到目前为止确定的关键生物标志物。此外,它探索了潜在的因果关系,包括温度对成熟睾丸细胞的影响和潜在的共同遗传起源。值得注意的是,这篇文献综述揭示了男性和狗在生殖发育方面的显著差异,睾丸肿瘤的组织学和分子特征,以及特定肿瘤类型的患病率,例如隐睾犬的支持细胞肿瘤(SCT)和人类的生殖细胞肿瘤(GCT)。这些差异警告不要使用狗作为人类睾丸癌研究的模型,并强调了在物种之间进行比较时的局限性。本文最后提出了具体的研究计划,以增强我们对狗隐睾和睾丸癌之间复杂相互作用的理解。
    Cryptorchidism, the failure of one or both testes to descend into the scrotum, and testicular cancer show a strong correlation in both dogs and humans. Yet, long-standing medical debates persist about whether the location of undescended testes directly causes testicular cancer in humans or if both conditions stem from a common origin. Although testicular cancer is a prevalent disease in dogs, even less is known about its cause and correlation with testicular descent in this species. This review investigates the relation between these two disorders in dogs, drawing insights from human studies, and examines key biomarkers identified thus far. In addition, it explores potential causal links, including the impact of temperature on maturing testicular cells and a potential shared genetic origin. Notably, this literature review reveals significant differences between men and dogs in reproductive development, histological and molecular features of testicular tumors, and the prevalence of specific tumor types, such as Sertoli cell tumors in cryptorchid dogs and germ cell tumors in humans. These disparities caution against using dogs as models for human testicular cancer research and underscore the limitations when drawing comparisons between species. The paper concludes by suggesting specific research initiatives to enhance our understanding of the complex interplay between cryptorchidism and testicular cancer in dogs.
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  • 文章类型: Case Reports
    精母细胞瘤是一种非常罕见的生殖细胞睾丸肿瘤,占睾丸癌的不到1%。它通常影响平均年龄为53.6岁(范围19-92岁)的老年男性。精母细胞肿瘤被分类在与原位生殖细胞瘤不相关的生殖细胞肿瘤组中。它具有与经典精原细胞瘤不同的临床病理特征,不被认为是后者的变体。由于与经典精原细胞瘤的形态学重叠,它在过去被称为“精子细胞精原细胞瘤”。精原细胞肿瘤的间变性变种是特殊的,文献中很少描述案例,尽管显示出与经典精原细胞瘤相似的组织学模式,但与精原细胞瘤相比,它表现出更早的发病和良性行为。我们介绍了第二例双侧同步间变性精原细胞肿瘤,一名接受睾丸切除术和化疗的年轻患者。
    Spermatocytic tumor is a very rare germ cell testicular neoplasm that accounts for less than 1% of testicular cancers. It generally affects older men with a mean age of 53.6 years (range 19-92 years). Spermatocytic tumor is classified within the group of germ cell tumors not related to germ cell neoplasia in situ. It presents clinicopathological characteristics different from classic seminoma and is not considered a variant of the latter. Due to a morphologic overlap with classical seminoma, it was called \"sperm cell seminoma\" in the past. The anaplastic variant of spermatocytic tumor is exceptional, few cases have been described in the literature, it presents an earlier onset compared to spermatocytic tumor and a benign behavior despite showing histological patterns similar to classic seminoma. We present the second case of bilateral synchronous anaplastic spermatocytic tumor, in a young patient treated with orchiectomy and chemotherapy.
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  • 文章类型: Case Reports
    精母细胞瘤是一种罕见的睾丸癌,占所有睾丸恶性肿瘤的<1%。这种类型的癌症通常影响60多岁和70多岁的男性,很少转移;然而,如果不及时治疗,它对受影响个人的健康构成威胁。本研究描述了一名68岁的男性患者患有这种类型的肿瘤,包括他最初的症状,治疗和后续监测。一个男性病人,68岁,访问了作者的诊所,右睾丸无症状肿块。在有钝性损伤的历史之后,肿块的大小一直在逐渐增加,持续了5年。在考试期间,一个明显的,在右睾丸中检测到无痛肿大,而左侧睾丸似乎处于正常状态。肿瘤标志物在正常范围内。成像显示一个复杂的肿块(11x8x7厘米)几乎取代了右睾丸,没有可检测到的淋巴结。在脊髓麻醉下进行了右根治性睾丸切除术。组织病理学检查显示为精母细胞肿瘤。手术后的时期是平安无事的,在CT扫描中没有发现转移.患者出院,并有定期随访的指示。本文介绍的病例突出了一名68岁男性的罕见精原细胞肿瘤。睾丸肿瘤的早期发现和治疗,不管年龄,对良好的预后至关重要。
    Spermatocytic tumors are a rare type of testicular cancer, comprising <1% of all testicular malignancies. This type of cancer typically affects males in their 60s and 70s and rarely metastasizes; however, it poses a threat to the health of affected individuals if left untreated. The present study describes the case of a 68-year-old male patient with this type of tumor, including a presentation of his initial symptoms, treatment and subsequent monitoring. A male patient, aged 68 years, visited the authors\' clinic with an asymptomatic mass in the right testicle. The mass had been progressively increasing in size for a duration of 5 years following a history of blunt injury. During the examination, a noticeable, painless enlargement was detected in the right testis, whereas the left testis appeared to be in a normal state. Tumor markers were within normal limits. Imaging revealed a complex mass (11x8x7 cm) almost replacing the right testis, with no detectable lymph nodes. A right radical orchidectomy was performed under spinal anesthesia. A histopathological examination revealed a spermatocytic tumor. The post-operative period was uneventful, with no metastasis detected in the CT scans. The patient was discharged with instructions for regular follow-up appointments. The case presented herein highlights a rare spermatocytic tumor in a 68-year-old male. The early detection and treatment of testicular tumors, regardless of age, are crucial for a good prognosis.
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  • 文章类型: Journal Article
    精母细胞瘤(ST)是一种罕见的生殖细胞肿瘤,仅发生在青春期后的睾丸中,通常影响老年男性。大多数STs是良性的,但罕见病例表现出侵略性的临床行为,通常与过渡到肉瘤样组织学有关。对STs进行了有限的分子分析;因此,它们的基因组和表观基因组特征仍未完全描述.对25名患者的27个样本进行了DNA测序组合分析,基因组甲基化分析,SNP阵列,等染色体(12p)[i(12p)]FISH,和免疫组织化学。该系列包括五个转移性肿瘤(三个伴有肉瘤样转化,一个间变性者,和1例常规)和20例非转移性肿瘤(14例间变性和6例常规)。间变性肿瘤由中等大小的肿瘤细胞组成,如前所述。多组学分析表明,有两个STs基因组亚组:一个具有二倍体基因组和热点RAS/RAF变体,另一个具有全局倍性转移和不存在复发性突变。9号染色体的相对增益在两个亚组中是一致的发现。对转移和非转移病例的比较表明,攻击行为与致病性TP53突变的获得和/或12p/i(12p)的相对增益有关。在肉瘤样转化的病例中,TP53突变似乎是向肉瘤样组织学转变的基础。基因组甲基化分析表明,具有12p增益的侵袭性病例比没有12p增益的STs更接近纯精原细胞瘤。总之,STs包括两个基因组亚组,以没有复发突变的全局倍性变化和具有RAS/RAF热点突变的二倍体基因组为特征,分别。生物学进展与12p和TP53突变的相对增益相关。在相对增益为12p的ST中的发现表明,它们可能表现出类似于原位相关生殖细胞肿瘤中的生殖细胞瘤形成而不是原位衍生的非生殖细胞瘤形成的生物学特征。©2023作者。由JohnWiley&SonsLtd代表英国和爱尔兰病理学会出版的病理学杂志。
    Spermatocytic tumor (ST) is a rare type of germ cell tumor that occurs exclusively in the postpubertal testis and typically affects elderly men. Most STs are benign, but rare cases exhibit aggressive clinical behavior, often in association with transition to sarcomatoid histology. Limited molecular analyses have been performed on STs; therefore, their genomic and epigenomic features remain incompletely described. Twenty-seven samples from 25 individual patients were analyzed with a combination of DNA sequencing panels, genomic methylation profiling, SNP array, isochromosome (12p) [i(12p)] FISH, and immunohistochemistry. The series included five metastasizing tumors (three with sarcomatoid transformation, one anaplastic, and one conventional) and 20 non-metastasizing tumors (14 anaplastic and six conventional). Anaplastic tumors comprised a monomorphic population of intermediate-sized neoplastic cells, as previously described. Multiomic analyses demonstrated that there were two genomic subgroups of STs: one with diploid genomes and hotspot RAS/RAF variants and the other with global ploidy shift and absence of recurrent mutations. Relative gain of chromosome 9 was a consistent finding in both subgroups. A comparison of metastasizing and non-metastasizing cases demonstrated that aggressive behavior was associated with the acquisition of pathogenic TP53 mutations and/or relative gains of 12p/i(12p). In cases with sarcomatoid transformation, TP53 mutations seem to underlie the transition to sarcomatoid histology. Genomic methylation analysis demonstrated that aggressive cases with gains of 12p cluster closer to pure seminomas than to STs without gains of 12p. In conclusion, STs include two genomic subgroups, characterized by global ploidy shifts without recurrent mutations and diploid genomes with RAS/RAF hotspot mutations, respectively. Biologic progression was associated with relative gains of 12p and TP53 mutations. The findings in STs with relative gains of 12p suggest that they may exhibit biologic characteristics akin to those seen in germ cell neoplasia in situ-related germ cell tumors rather than non-germ cell neoplasia in situ-derived STs. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
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  • 文章类型: Case Reports
    睾丸癌主要诊断为15-35岁的年轻男性。然而,有一些罕见的肿瘤,如精母细胞肿瘤,更常见于老年男性人群。在科学文献中,精母细胞肿瘤以前被称为精母细胞精原细胞瘤。我们报告了2例年龄分别为50岁和77岁的患者,均被诊断为精母细胞肿瘤。本文将讨论这些肿瘤的超声和组织病理学特征,并复习精原细胞肿瘤病例的文献。
    Testicular cancer is predominantly diagnosed in young men aged 15-35 years. However, there are some rare tumors such as spermatocytic tumors that are seen more often in the older male population. Spermatocytic tumors have previously been known as spermatocytic seminomas in the scientific literature. We report the cases of 2 patients aged 50 and 77 years both diagnosed with spermatocytic tumors. In this paper we will discuss the ultrasound and histopathology features of these tumors and review the literature of spermatocytic tumor cases.
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  • 文章类型: Journal Article
    精母细胞瘤(ST)是一种非常罕见的疾病,约占睾丸癌的1%。以前被归类为精母细胞精原细胞瘤,它目前被分类在非生殖细胞瘤形成原位来源的肿瘤中,与其他形式的生殖细胞肿瘤(GCT)相比,它具有不同的临床病理特征.为了识别相关文章,对MEDLINE/PubMed图书馆数据进行了基于Web的搜索。在绝大多数情况下,STs在I期被诊断并且具有非常好的预后。选择的治疗是单独的睾丸切除术。然而,有两种罕见的具有攻击性行为的STs变体,即间变性ST和肉瘤转化的ST,对全身治疗有抵抗力,预后很差。我们总结了所有的流行病学,与其他细菌GCT相比,必须被视为特定实体的STs的文献中可用的病理和临床特征,包括精原细胞瘤.为了提高对这种罕见疾病的认识,需要国际登记处。
    Spermatocytic tumor (ST) is a very rare disease, accounting for approximately 1% of testicular cancers. Previously classified as spermatocytic seminoma, it is currently classified within the non-germ neoplasia in-situ-derived tumors and has different clinical-pathologic features when compared with other forms of germ cell tumors (GCTs). A web-based search of MEDLINE/PubMed library data was performed in order to identify pertinent articles. In the vast majority of cases, STs are diagnosed at stage I and carry a very good prognosis. The treatment of choice is orchiectomy alone. Nevertheless, there are two rare variants of STs having very aggressive behavior, namely anaplastic ST and ST with sarcomatous transformation, that are resistant to systemic treatments and their prognosis is very poor. We have summarized all the epidemiological, pathological and clinical features available in the literature regarding STs that have to be considered as a specific entity compared to other germ GCTs, including seminoma. With the aim of improving the knowledge of this rare disease, an international registry is required.
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  • 文章类型: Journal Article
    未经证实:精母细胞肿瘤是一种罕见的睾丸肿瘤,见于具有独特临床病理特征和良好预后的老年患者。典型的表现和特征性的组织学特征通常足以诊断。大多数病例适合手术切除。然而,偶尔有肉瘤转化的病例可能表现得更积极,需要辅助治疗。
    UNASSIGNED:我们介绍了2002-2019年在我们三级癌症研究所诊断为精母细胞肿瘤的一系列26例病例的临床病理特征。
    未经证实:其中24例具有精母细胞瘤的典型细胞学特征,2例表现为肉瘤样改变,一个有横纹肌肉瘤分化,另一个是未分化的梭形细胞肉瘤。虽然肿瘤可以显示不同的模式,在所有情况下,三方细胞形态学都是典型的。
    UNASSIGNED:仔细注意组织学的这些模式和变化对于防止其他睾丸肿瘤的错误诊断和指导治疗是必不可少的。
    UNASSIGNED: Spermatocytic tumours are a rare subset of testicular tumours seen in elderly patients with distinct clinicopathological features and a favourable outcome. The typical presentation and characteristic histological features usually suffice for the diagnosis. Most of the cases are amenable to surgical excision. However, occasional cases which have a sarcomatous transformation may behave more aggressively and warrant adjuvant therapy.
    UNASSIGNED: We present the clinicopathological features of a series of 26 cases diagnosed as Spermatocytic tumour at our tertiary cancer institute from 2002-2019.
    UNASSIGNED: Twenty-four of these cases had the typical cytological features of a spermatocytic tumour while two cases showed sarcomatous change, one with rhabdomyosarcomatous differentiation and the other being an undifferentiated spindle cell sarcoma. Although the tumor can show varied patterns, the tripartite cytomorphology is typical in all cases.
    UNASSIGNED: Careful note of these patterns and variations in histology is essential to prevent an erroneous diagnosis of other testicular neoplasms and guide the therapy.
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  • 文章类型: Journal Article
    大多数精母细胞肿瘤(STs)具有良好的预后。在极少数情况下,转移性疾病已被记录。然而,目前尚不清楚侵袭性肿瘤是否有特定的分子改变。在这里,我们研究了具有(n=4)和没有(n=3)间变性特征的主要STs,包括5ST的单核苷酸多态性微阵列(非间变性:3;间变性:2)。睾丸切除术的平均年龄和肿瘤大小为49岁和6.5厘米,分别。在3(4,75%)间变性STs中发现了淋巴管浸润和坏死,包括一名患有临床转移性疾病和一名患有局部侵袭性疾病。本研究中的病例均未表现出肉瘤样改变。间变性肿瘤的平均有丝分裂计数较高(59/10对10/10的高倍视野)。本研究中的所有ST对于SALL4和CD117是阳性的,并且对于0CT3/4和CD30是阴性的(7/7,100%)。除局部侵袭性间变性ST外,所有患者均发现SSX-C阳性(6个中的5个,83%)。所有STs均显示9号染色体的一致增益,包括DMRT1基因的基因座(5例,100%),而染色体12p的获得仅在2个(2个)间变性变体中可见。间变性STs中12p的增益可能代表转化为更具侵袭性的肿瘤的生物标志物。或者,具有12p增益的STs可能代表II型和III型生殖细胞肿瘤之间的中间状态。需要进一步的研究来验证12p的增益是否是具有间变性形态的STs的一致特征及其与侵袭性临床行为的关联。
    Most spermatocytic tumors (STs) have an excellent prognosis. In rare instances, metastatic disease has been documented. However, it is unclear if aggressive tumors have specific molecular alterations. Herein, we have studied primary STs with (n = 4) and without (n = 3) anaplastic features, including single-nucleotide polymorphism microarrays for 5 ST (nonanaplastic: 3; anaplastic: 2). The mean age at orchiectomy and tumor size was 49 years and 6.5 cm, respectively. Lymphovascular invasion and necrosis were identified in 3 (of 4, 75%) anaplastic STs, including one with clinically metastatic disease and one with locally aggressive disease. None of the cases in this study exhibited sarcomatoid change. The mean mitotic count was higher in anaplastic tumors (59/10 versus 10/10 high-power fields). All STs in this study were positive for SALL4 and CD117 and negative for OCT3/4 and CD30 (7/7, 100%). SSX-C positivity was identified in all but the locally aggressive anaplastic ST (5 of 6, 83%). All STs showed a consistent gain of chromosome 9 including the locus for the DMRT1 gene (5 of 5 cases, 100%), while gains of chromosome 12p were only seen in 2 (of 2) anaplastic variants. Gains of 12p in anaplastic STs may represent a biomarker of transformation into more aggressive tumors. Alternatively, STs with gain of 12p may represent an intermediate state between type II and type III germ cell tumors. Future studies are needed to validate whether gain of 12p is a consistent feature of STs with anaplastic morphology and its association with aggressive clinical behavior.
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