Câncer (português brasileiro) ou cancro (português europeu), também conhecido como neoplasia maligna é um grupo de doenças que envolvem o crescimento celular anormal, com potencial para invadir e espalhar-se para outras partes do corpo, além do local original. Há mais de cem diferentes cânceres conhecidos que afetam os seres humanos, mas nem todos os tumores são cancerosos (malignos); tumores benignos não se espalham pelo corpo. Sinais e sintomas possíveis incluem surgimento de uma massa cancerígena, sangramento anormal, tosse prolongada, perda de peso inexplicável, mudança nas funções intestinais, entre outros. Apesar de estes sintomas poderem indicar câncer, eles também podem ocorrer devido a outras doenças.
Introdução
O que você precisa saber de cara
Tumor ovariano raro, geralmente de início na idade adulta, com subtipos como disgerminoma e gonadoblastoma. Pode cursar com hirsutismo, dor abdominal e alterações hormonais, como aumento de testosterona, associado a disgenesia gonadal.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 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
3 genes identificados com associação a esta condição.
Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them
CytoplasmCytoplasm, perinuclear region
Pleuropulmonary blastoma
A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor.
Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Par
Nucleus
Blepharophimosis, ptosis, and epicanthus inversus syndrome
A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.
May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth
Secreted
Ovarian dysgenesis 2
A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Medicamentos e terapias
Mecanismo: DNA topoisomerase II inhibitor
Mecanismo: Tubulin inhibitor
Mecanismo: Gonadotropin-releasing hormone receptor agonist
Mecanismo: Gonadotropin-releasing hormone receptor agonist
Mecanismo: Androgen Receptor antagonist
Mecanismo: Cytochrome P450 19A1 inhibitor
Variantes genéticas (ClinVar)
1,612 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 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 não epitelial maligno do ovário
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Publicações mais relevantes
Correlation between ultrasound and gross pathology examination of malignant ovarian tumors: a pictorial review for pattern recognition.
This narrative review integrates recent literature and representative, non-consecutive, cases from the International Ovarian Tumor Analysis (IOTA) database (University Hospitals Leuven) to illustrate macroscopic-sonographic correlations in epithelial and non-epithelial ovarian malignancies. The main objective was to explore the correlation between ultrasound and gross pathologic features of malignant ovarian tumors, highlighting histotype-specific patterns using IOTA terminology. All patients provided informed consent. Key tumor features (solid components, necrosis, septations, exophytic growth, and papillary projections) were evaluated using standardized IOTA terms. Ultrasound images were compared with matched gross pathology photographs. The integration of matched ultrasound and pathology images may represent an effective educational tool, improving diagnostic accuracy among sonographers. Knowledge of the ultrasound features more frequently reported for specific histotypes in the existing literature, interpreted using IOTA terminology and supported by gross-ultrasound image correlation, may aid the differential diagnosis of borderline and primary invasive ovarian tumors and support subsequent clinical management. This approach may inform surgical decision-making and guide pre-operative planning. A non-validated diagnostic flowchart is proposed to assist in the differential diagnosis of malignant ovarian tumors.
Combination of transvaginal ultrasound with cervical cancer screening contributes to early detection of ovarian cancer: Clinical trial.
Early detection of ovarian cancer at stage I is important to improve patients' prognosis. The goal of this study was to examine if transvaginal ultrasound (TVU) performed at the same time as cervical cancer screening can facilitate early detection of ovarian cancer. From 2014 to 2022, 483 269 women underwent TVU examinations during cervical cancer screening. The criteria for abnormal findings on TVU were ovarian enlargement ≥3 cm in long diameter (≥2 cm in postmenopausal women). Of the 483 269 women who underwent TVU, 3294 (0.68%) were selected for detailed examination. Of these women, 550 underwent surgery and 80 cases of ovarian cancer were found (positive predictive value: 2.43%). Pathologic review in 76 of these cases showed 70 cases of epithelial ovarian cancer (type I: 54 [77.1%], Type II: 16 [22.9%]) and six cases of non-epithelial malignant tumors. Clinical staging analysis showed that 81.6% (62 cases) were at stage I. Significantly more type I than type II tumors were detected at stage I (87.3% (n = 46) vs. 56.3%, P = 0.0068 (n = 9)). Notably, 95.7% (22/23) of clear cell carcinoma cases were detected at stage I. The high rate of early detection of type I ovarian cancer might be due to its slow progression. In Asia, where type I is common, the benefits of screening for ovarian cancer are particularly great. However, screening with TVU has generally been considered to have little benefit. The results of this study suggest a need for reassessment of this view.
Cancer Antigen-125 and Carcinoembryonic Antigen in Determining Malignancy Risk in Epithelial Ovarian Tumor: An Observational Study.
Epithelial ovarian cancers make up about 90% of ovarian malignancies and are often diagnosed late due to its vague symptoms. Cancer Antigen-125 (CA-125) and Carcinoembryonic Antigen (CEA), play a pivotal role in differentiating benign from malignant ovarian tumors and aid in assessing malignancy risk. The study was hospital-based cross-sectional study conducted at Paropakar Maternity and Women's Hospital among 53 women diagnosed with ovarian tumors scheduled for surgery. Data were collected between July to December 2023. Non-epithelial tumors were excluded after obtaining final histopathology report. Preoperative CA-125 and CEA levels were correlated with epithelial ovarian tumors. Data analysis was performed using Statistical Package for Social Sciences software version 29. Among 53 cases, 13 (33.30%) cases belonged to 40-49 years age group, while 5 (45.40%) cases of malignant tumors were in the 50-59 years age group. There were 5 (45.50%) cases of malignant tumors in women with parity two, while 11 (28.20%) cases of benign tumors in women with parity two. There were 39 (73.60%) benign cases, 3 (5.65%) borderline, and 11 (20.75%) malignant tumors. There were 36 (67.90%) serous tumors and 15 (28.30%) cases were mucinous tumors. Cancer Antigen-125 (>35 IU/mL) had high sensitivity 90.90%) and specificity (87.20%) for malignancy, while Carcinoembryonic Antigen (>3 ng/mL) had sensitivity 36.40% and high specificity 89.70% for malignancy. Cancer Antigen-125 showed high sensitivity and specificity in distinguishing malignant from benign epithelial ovarian tumors. Carcinoembryonic Antigen, while less sensitive, provided high specificity.
Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.
The ovary, as the primary organ responsible for reproduction and new life, plays a central role in female development, maturation, and health. Neoplasms arising from the ovary and its associated tissues exhibit substantial heterogeneity in their histopathological and molecular profiles, many of which remain poorly understood. This review aims to summarize recent advances in the understanding of genetic alterations underlying ovarian neoplasms and to explore therapeutic strategies informed by molecular biomarkers and tumor microenvironmental factors. A comprehensive literature search was performed, focusing on genomic alterations, biomarker-guided therapies, and tumor microenvironmental modulation in ovarian cancers. Emphasis was placed on studies addressing lipid mediator pathways and their roles in immune regulation and therapeutic response. Based on diagnostic classifications, recurrent alterations in TP53, MYC, PIK3CA, and KRAS are consistently observed across epithelial and germ cell ovarian tumors, whereas non-epithelial subtypes such as sex cord-stromal tumors (SCSTs) and small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT), are predominantly associated with ARID1A and SMARCA4 mutations, respectively. These findings highlight distinct pathogenic mechanisms linked to specific genetic alterations and reveal potential therapeutic vulnerabilities. Moreover, lipid metabolism has been closely implicated in immune surveillance through STING signaling cascades within innate immune cells, suggesting that lipid mediators and their associated genes may represent promising therapeutic targets in ovarian cancers (OCs). Targeting lipid mediators could be particularly effective in relapsed OCs, as modulating innate immune cells within the tumor microenvironment (TME) may enhance immune surveillance and improve antitumor responses. Integrating genetic and microenvironmental insights offers a promising direction for developing more effective and personalized therapeutic strategies in OC.
Long-term quality of life in non-epithelial ovarian cancer survivors: TMRG-GINECO-Vivrovaire rare tumors case-control study.
Patients treated for rare ovarian germ cell tumors (GCT) and sex cord stromal tumors (SCST) often experience long-term survival. Treatments include surgery with or without chemotherapy (CT), which can cause late side effects that negatively impact quality of life (QoL). This study assessed long-term QoL among GCT and SCST survivors compared to age-matched healthy women (HW), focusing on patients treated with CT. Cancer-free GCT and SCST survivors (≥ 2 years post-treatment) were recruited from the INCa French Network TMRG. HW were recruited via the "Seintinelles" platform. Participants completed validated questionnaires assessing QoL (FACT-G/FACT-O), fatigue (MFI), anxiety/depression (HADS), insomnia (ISI), neurotoxicity (FACT/GOG-NTX), cognition (FACT-COG), and sexuality (FACT-O OCS). Clinically relevant differences were defined as ≥ 5% between groups. A total of 144 survivors (99 GCT and 45 SCST) were included and compared with 284 matched HW (median age: 35.2 years). The median time from the end of treatment was 6 years [Q1 3.5-Q3 9.3]. At inclusion, 42% of patients were menopausal compared to 17% of HW (p < 0.001), with reduced sexual QoL. Survivors reported more cognitive impairment (32% vs. 21%, p = 0.025) and severe neurotoxicity (23% vs. 8%, p < 0.001). QoL, fatigue, anxiety/depression, and insomnia scores were similar for patients and HW. With a median of 6 years after CT, most GCT and SCST survivors reported similar overall QoL compared to HW but faced premature menopause, reduced sexual QoL, and persistent cognitive and neurotoxic effects. NCT03418844.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 97
Correlation between ultrasound and gross pathology examination of malignant ovarian tumors: a pictorial review for pattern recognition.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyCancer Antigen-125 and Carcinoembryonic Antigen in Determining Malignancy Risk in Epithelial Ovarian Tumor: An Observational Study.
JNMA; journal of the Nepal Medical AssociationTargeting Ovarian Neoplasms: Subtypes and Therapeutic Options.
Medicina (Kaunas, Lithuania)Long-term quality of life in non-epithelial ovarian cancer survivors: TMRG-GINECO-Vivrovaire rare tumors case-control study.
BMC medicineCombination of transvaginal ultrasound with cervical cancer screening contributes to early detection of ovarian cancer: Clinical trial.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics"Is the incidence of non-epithelial ovarian tumors on the rise? insights from a Tunisian tertiary center".
Frontiers in oncologyPrimary treatment and survival in malignant ovarian germ cell tumors: A nationwide population-based Swedish Gynecologic Cancer Group (SweGCG) study.
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European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyComprehensive analysis of calcification frequency and patterns in ovarian tumours using non-contrast CT.
Japanese journal of radiologyDiagnosis and Treatment of Gestational Non-Epithelial Ovarian Cancer: A Systematic Review.
Anticancer researchPrimary versus interval cytoreductive surgery in patients with rare epithelial or non-epithelial ovarian cancer.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyAnalysis of the global burden of ovarian cancer in adolescents.
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Gynecologic oncology[Préservation de la fertilité avant traitement d'un cancer de l'ovaire].
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HistopathologyA case report of a young girl with mucinous borderline tumor of the ovary.
Obstetrics & gynecology science[Grading of gynecological tumors : Current aspects].
Der PathologeClinical and pathologic features of patients with non-epithelial ovarian cancer: retrospective analysis of a single institution 15-year experience.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoDifferential expression of E-cadherin and catenins in ovarian sex cord stromal tumours.
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Gynecologic oncologyComparing the Copenhagen Index (CPH-I) and Risk of Ovarian Malignancy Algorithm (ROMA): Two equivalent ways to differentiate malignant from benign ovarian tumors before surgery?
Gynecologic oncology[A Case of Mucinous Cystadenocarcinoma of the Retroperitoneum Supposed to Be Derived from Ectopic Ovarian Tissue].
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International journal of cancerMicroRNAs in Ovarian Cancer.
Human pathology[Rare ovarian tumors: report of a series of 11 cases of malignant non-epithelial ovarian tumors].
The Pan African medical journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Correlation between ultrasound and gross pathology examination of malignant ovarian tumors: a pictorial review for pattern recognition.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society· 2026· PMID 41865621mais citado
- Combination of transvaginal ultrasound with cervical cancer screening contributes to early detection of ovarian cancer: Clinical trial.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics· 2026· PMID 41178497mais citado
- Cancer Antigen-125 and Carcinoembryonic Antigen in Determining Malignancy Risk in Epithelial Ovarian Tumor: An Observational Study.
- Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.
- Long-term quality of life in non-epithelial ovarian cancer survivors: TMRG-GINECO-Vivrovaire rare tumors case-control study.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:398940(Orphanet)
- MONDO:0018365(MONDO)
- GARD:21650(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787996(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
