Um tipo de tumor que se origina das células germinativas do testículo. Essas são as células que dão origem aos espermatozoides. Exemplos comuns incluem teratoma, seminoma, carcinoma embrionário e tumor do saco vitelínico.
Introdução
O que você precisa saber de cara
O tumor testicular de células germinativas é um tipo de câncer que se desenvolve a partir das células dos testículos que produzem os espermatozoides. Ele pode se manifestar sob diferentes formas histológicas, como teratomas ou coriocarcinomas, e pode causar aumento de marcadores como a alfa-fetoproteína ou ausência de espermatozoides. No Brasil, a condição não possui um Protocolo Clínico e Diretrizes Terapêuticas (PCDT) exclusivo na lista oficial de doenças raras do Ministério da Saúde. O tratamento e o acompanhamento são realizados pela rede oncológica do Sistema Único de Saúde (SUS), envolvendo procedimentos cirúrgicos e acompanhamento médico contínuo.
Um tipo de tumor que se origina das células germinativas do testículo. Essas são as células que dão origem aos espermatozoides. Exemplos comuns incluem teratoma, seminoma, carcinoma embrionário e tumor do saco vitelínico.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição.
Peutz-Jeghers syndrome
An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer.
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Piebald trait
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Hypogonadotropic hypogonadism 17 with or without anosmia
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Hyperpigmentation with or without hypopigmentation, familial progressive
A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
Variantes genéticas (ClinVar)
121 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
43 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tumor testicular de células germinativas
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Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
92 ensaios clínicos encontrados, 9 ativos.
Publicações mais relevantes
[Expert consensus on specimen handling and pathological diagnosis of germ cell tumor of testis].
睾丸生殖细胞肿瘤相对少见,但其具有明显的组织学和生物学行为异质性,准确的病理诊断和分期具有重要的临床意义。本共识在2018年美国癌症联合委员会第8版肿瘤淋巴结转移分期及2022年第5版WHO泌尿及男性生殖器官肿瘤分类的基础上,讨论了针对不同类型的睾丸生殖细胞肿瘤切除标本的规范化取材和病理诊断的要点,尤其是与分期密切相关的临床病理参数,并制订了相关的格式化病理诊断和报告的推荐模板,同时简要讨论了免疫组织化学染色和分子检测的实践应用,以期为睾丸生殖细胞肿瘤的精准诊断和治疗提供理论和实践依据。.
Metastatic epithelioid trophoblastic tumor in retroperitoneal nodes in a case of regressed germ cell tumor of testis: An extremely rare occurrence.
Epithelioid trophoblastic tumor is an extremely rare tumor which occurs in women of the reproductive age group following a previous gestation. Its occurrence in male patients is remarkably rare, with only six cases reported in the English literature. Herein, we discuss the unusual occurrence of this tumor in a 31-years-old male patient as a component of non-seminomatous germ cell tumor. It presented as retroperitoneal metastasis with associated testicular microlithiasis (regressed germ cell tumor).
Robotic versus Laparoscopic Retroperitoneal Lymph node Dissection for Clinical Stage I Non-seminomatous Germ Cell Tumor of Testis: A Comparative Analysis.
To compare the treatment outcomes of robotic retroperitoneal lymph node dissection (R-RPLND) versus laparoscopic RPLND (L-RPLND) for clinical stage I non-seminomatous germ cell testicular tumors (NSGCTs). We retrospectively reviewed the data of patients with stage I NSGCTs who underwent robotic or laparoscopic RPLND between 2008 and 2017. Perioperative data and oncologic outcomes were reviewed and compared between the two groups. Progression-free survival was analyzed using Kaplan-Meier survival curves and compared between two groups. A total of 31 and 28 patients underwent R-RPLND and L-RPLND respectively. The preoperative characteristics of the patients were comparable in the two groups. Patients in R-RPLND group had significantly shorter median operative time (140 vs. 175 minutes, P < .001), a shorter median duration to surgical drain removal (2 vs. 4 days, P = .002) and a shorter median postoperative hospital stay (5 vs. 6 days, P = .001). There were no statistical differences in intra- and post-operative complication rate between the groups and the oncologic outcomes were similar in the two groups. In expert hands, R-RPLND and L-RPLND were comparable in oncological parameter and morbidity rate; R-RPLND showed superiority in operation duration, median days to surgical drain removal and postoperative hospital stay for stage I NSGCTs. Multicenter and randomized studies with good power of study and sufficient follow-up duration are required to validate our result.
Incidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.
Zinner syndrome is a rare congenital abnormality occurring in males comprising a triad of unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, and seminal vesicle cyst. Most patients remain asymptomatic, and some may present with lower urinary tract symptoms or infertility. We present a case of incidentally detected Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis, an association that is not reported in literature to our knowledge.
Synchronous mixed germ cell tumor of testis and renal cell carcinoma: A rare presentation.
Synchronous presentation of mixed germ cell tumor of testis and renal cell carcinoma is a rare presentation and has not been reported in literature. RCC accounts for 3% of all adult malignant neoplasms (Marzouk et al., 2014). It is the most lethal urologic cancers. Testicular cancer is of generally aggressive form and is the most common form of cancer in young men aged 15-35 years. We report a case of incidental finding of left renal cell carcinoma with mixed germ cell tumor of right testis in our patient. A 36 years old male patient came with complaints of painless swelling in the right side of the scrotum since 1 year. On palpation a hard swelling of size 5 x 4 cm was palpable in right scrotum. Ultrasonography suggested likelihood of a neoplastic etiology. On Contrast enhanced CT of abdomen, a well defined mass in the lower pole of left kidney likely to be an Oncocytoma, which was not palpable. CT guided biopsy of renal mass, was suggestive of epithelial renal tumor probably oncocytoma or low grade renal cell carcinoma. In literature there are very few cases reported of metachronous mixed germ cell tumor of testis and renal cell carcinoma. There are 12 reports of patients having metachronous testicular and renal malignancy. During the metastatic work up to mixed germ cell tumor we found the mass in the left kidney which was ultimately diagnosed to be renal cell carcinoma. The management of both the malignancies depend on their merit and is a real challenge for a surgeon. Treatment strategies for both malignancies depend on accurate clinical staging and should be integrated to provide optimal results.
Publicações recentes
[Expert consensus on specimen handling and pathological diagnosis of germ cell tumor of testis].
Metastatic epithelioid trophoblastic tumor in retroperitoneal nodes in a case of regressed germ cell tumor of testis: An extremely rare occurrence.
Robotic versus Laparoscopic Retroperitoneal Lymph node Dissection for Clinical Stage I Non-seminomatous Germ Cell Tumor of Testis: A Comparative Analysis.
Incidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.
Synchronous mixed germ cell tumor of testis and renal cell carcinoma: A rare presentation.
📚 EuropePMC18 artigos no totalmostrando 9
[Expert consensus on specimen handling and pathological diagnosis of germ cell tumor of testis].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMetastatic epithelioid trophoblastic tumor in retroperitoneal nodes in a case of regressed germ cell tumor of testis: An extremely rare occurrence.
Indian journal of urology : IJU : journal of the Urological Society of IndiaRobotic versus Laparoscopic Retroperitoneal Lymph node Dissection for Clinical Stage I Non-seminomatous Germ Cell Tumor of Testis: A Comparative Analysis.
Urology journalIncidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.
Urology annalsSynchronous mixed germ cell tumor of testis and renal cell carcinoma: A rare presentation.
International journal of surgery case reportsStereotactic Ablative Radiotherapy (SAbR) in the Setting of Metastatic Nonseminomatous Germ Cell Tumor of Testis.
Clinical genitourinary cancerPost-chemotherapy robot-assisted retroperitoneal lymph node dissection in non-seminomatous germ cell tumor of testis: Feasibility and outcomes of initial cases.
Turkish journal of urologyRadiological nodule behavior: A critical parameter in the surgical management of pediatric pulmonary metastases.
The Turkish journal of pediatricsMixed Germ Cell Tumor of Testis with Isolated Scapular Metastasis: A Case Report and Review of the Literature.
Case reports in urologyAssociações
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Doença com base genética
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma neoplasia que se forma a partir das células germinativas dos testículos, responsáveis pela produção de espermatozoides. Pode abranger tipos como seminomas, teratomas, carcinomas embrionários e tumores do saco vitelínico.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Tumor testicular de células germinativas. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/tumor-testicular-de-celulas-germinativas
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Tumor testicular de células germinativas
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov