É um tipo de câncer de rim que afeta principalmente jovens afro-americanos. Ele se localiza na parte central do rim e tem um comportamento muito agressivo. Na maioria dos casos relatados, a doença já havia se espalhado para outras partes do corpo no momento do diagnóstico.
Introdução
O que você precisa saber de cara
É um tipo de câncer de rim que afeta principalmente jovens afro-americanos. Ele se localiza na parte central do rim e tem um comportamento muito agressivo. Na maioria dos casos relatados, a doença já havia se espalhado para outras partes do corpo no momento do diagnóstico.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244)
CytoplasmNucleus
Aniridia 2
A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By s
Nucleus
Aniridia 1
A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807)
Aniridia 3
A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Variantes genéticas (ClinVar)
649 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Carcinoma medular renal
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
21 ensaios clínicos encontrados, 11 ativos.
Publicações mais relevantes
Relapsed rhabdoid tumours and other non-nephroblastoma childhood and adolescent kidney tumours: perspectives from the HARMONICA collaboration.
Paediatric kidney tumours are generally associated with a favourable survival rate. Most children are diagnosed with Wilms tumour, which has a 90% long-term survival rate with conventional front-line and salvage therapies. However, treatments and outcomes of children with relapsed non-Wilms tumours, such as malignant rhabdoid tumour of the kidney, renal-cell carcinoma (including renal medullary carcinoma), clear-cell sarcoma of the kidney, anaplastic sarcoma of the kidney and congenital mesoblastic nephroma are not well defined. Several of these non-Wilms tumours include unfavourable prognostic subtypes. Currently available data on non-Wilms tumours support advancing studies that pivot from conventional strategies towards disease-specific, biologically driven novel treatments to improve outcomes for each of these rare childhood kidney tumours.
Unclear territory: navigating metastatic nonclear cell renal cell carcinoma.
To summarize recent updates in the classification, clinical trial evidence, and evolving treatment strategies for nonclear cell renal cell carcinoma (nccRCC). The 2022 WHO classification eliminated the type 1/2 papillary paradigm, refined molecularly defined tumors such as fumarate hydratase (FH)-deficient and anaplastic lymphoma kinase-rearranged RCC, while acknowledging indolent tumors like clear cell papillary renal cell tumors. Prospective and retrospective data increasingly support the use of immune checkpoint inhibitor (ICI)-based regimens, particularly ICI/ tyrosine kinase inhibitor (TKI) combinations. KEYNOTE-B61 and ARON-1 demonstrated consistent activity of pembrolizumab + lenvatinib across nccRCC subtypes, while the randomized SUNNIFORECAST trial validated ipilimumab + nivolumab as a first-line option with overall survival (OS) benefit over standard therapy. Subtype-specific approaches are also emerging: bevacizumab + erlotinib and sintilimab + axitinib showed high response rates in FH-deficient RCC, and prognostic tools such as VENUSS remain valuable for papillary RCC risk stratification. Despite progress, many studies remain limited by histologic heterogeneity and small sample sizes. Multiple ongoing trials, including ICONIC, SAMETA, and PAPMET2, are expected to further clarify optimal management strategies in 2026. Therapeutic advances are reshaping the management of nccRCC, with IO/TKI regimens and histology-specific therapies showing promise. Continued integration of molecular classification, rare subtype-specific trials, and international collaboration will be essential to establish evidence-based treatment standards for this diverse and understudied population.
Clinicopathological features of SMARCB1/INI1-deficient medullary-like renal cell carcinoma: Report of 3 cases and literature review.
SMARCB1/INI1-deficient medullary-like renal cell carcinoma (MLRCC), also used to be known as unclassified renal cell carcinoma with medullary phenotype (RCCU-MP), is an extremely rare and highly aggressive kidney tumor. The 2022 World Health Organization (WHO) classification proposes that high-grade renal cell carcinomas exhibiting morphological and immunophenotypic features identical to renal medullary carcinoma, but without evidence of sickle cell trait or disease, should be diagnosed as SMARCB1/INI1-deficient medullary-like renal cell carcinoma(MLRCC) and classified as a subtype of SMARCB1-deficient renal medullary carcinoma (RMC). To date, only 15 cases of MLRCC have been reported in the literature, primarily as case reports. This study presents three additional cases of MLRCC, all without a history of hemoglobinopathy or relevant family history. Histopathologically, all tumors exhibited nested, cord-like, and reticular/microcystic growth patterns that closely resemble those of classical renal medullary carcinoma, yet differ in epidemiological characteristics such as age and ethnic distribution. The tumor cells showed significant atypia with high-grade nuclear features and one case displayed focal rhabdoid morphology. Associated findings included necrosis, extensive stromal fibrosis, myxoid change, and a prominent inflammatory infiltrate with aggregates. Immunohistochemically, all three cases were positive for CK and Vimentin, and showed a complete loss of SMARCB1/INI1 protein expression. Currently, no standard treatment regimen has been established for this disease. Given its highly aggressive nature, early and accurate diagnosis is crucial. Pathologists must integrate clinical history, morphological characteristics, immunophenotype for a comprehensive diagnosis.
An update on the treatment paradigm for non-clear cell renal cell carcinoma.
Non - clear cell renal cell carcinoma (nccRCC) encompasses a heterogeneous group of rare malignancies, representing approximately 20-25% of all renal cancers. Unlike clear cell RCC (ccRCC), these subtypes - papillary, chromophobe, collecting duct, translocation, molecularly defined variants and others - display distinct biological behaviors, genetic profiles, and therapeutic sensitivities, which preclude a uniform treatment approach. This review provides an updated overview of systemic therapy for nccRCC, integrating evidence from prospective trials, retrospective series, and translational research. For most of these histologies, immune checkpoint inhibitor (ICI) - based combinations (e.g. pembrolizumab - lenvatinib, nivolumab - cabozantinib or nivolumab-ipilimumab) have demonstrated the best activity. In chromophobe RCC (chRCC), also mechanistic target of rapamycin (mTOR) inhibition appears particularly relevant, whereas in collecting duct carcinoma and renal medullary carcinoma platinum-based chemotherapy continue to have an important role, with cabozantinib showing encouraging results. Novel biomarker-driven approaches are emerging for selected molecular subsets. Although remarkable progress has been achieved, the optimal therapeutic strategy for nccRCC remains undefined. Future efforts should focus on histology- and biomarker-driven clinical trials, molecular stratification, to optimize efficacy across subtypes. International collaboration is crucial to overcome the challenges posed by the rarity and biological heterogeneity of these tumors.
Molecularly defined renal cell carcinomas: practical approaches for surgical pathologists.
Molecularly defined renal carcinomas (MDRC) represent a heterogeneous group of tumours characterized by disease-defining genetic alterations, and the documentation of these mutations is necessary for their diagnosis. This group includes TFE3-rearranged renal cell carcinoma (RCC), TFEB-rearranged RCC, TFEB-amplified RCC, fumarate hydratase (FH)-deficient RCC, succinate dehydrogenase (SDH)-deficient RCC, SMARCB1-deficient renal medullary carcinoma (RMC), ALK-rearranged RCC, and ELOC-mutated RCC. Although they account for only about 5% of RCC, they are clinically significant due to distinctive biology, frequent diagnostic pitfalls, and therapeutic implications. Many pathology laboratories lack immediate access to fluorescence in situ hybridization (FISH) or next-generation sequencing (NGS) to confirm MDRC; this review emphasizes morphologic recognition and immunohistochemical surrogates, followed by rational triage for ancillary testing when available.
Publicações recentes
Gemcitabine-Induced Lung Injury Masquerading as ARDS in a Patient With Metastatic Renal Medullary Carcinoma: A Case Report.
Renal medullary carcinoma: a systematic review of clinical and radiological findings.
Tazemetostat, an EZH2 inhibitor, in solid tumors harboring SWI/SNF alterations: a phase II basket study.
Unclear territory: navigating metastatic nonclear cell renal cell carcinoma.
Identifying new targets for the treatment of renal medullary carcinoma: from biological hallmarks to precision therapies.
📚 EuropePMC162 artigos no totalmostrando 163
Unclear territory: navigating metastatic nonclear cell renal cell carcinoma.
Current opinion in oncologyIdentifying new targets for the treatment of renal medullary carcinoma: from biological hallmarks to precision therapies.
Future oncology (London, England)Clinicopathological features of SMARCB1/INI1-deficient medullary-like renal cell carcinoma: Report of 3 cases and literature review.
Annals of diagnostic pathologyAn update on the treatment paradigm for non-clear cell renal cell carcinoma.
Expert review of clinical pharmacologySMARCB1-Deficient Renal Medullary Carcinoma: A Case Report Highlighting the Value of History and Race Information.
CureusRelapsed rhabdoid tumours and other non-nephroblastoma childhood and adolescent kidney tumours: perspectives from the HARMONICA collaboration.
Nature reviews. UrologyRenal Medullary Carcinoma: A Call for Screening and Early Diagnosis.
CureusMolecularly defined renal cell carcinomas: practical approaches for surgical pathologists.
HistopathologyNivolumab plus ipilimumab induce hyper-progression in renal medullary carcinoma: results of a phase II trial and preclinical evidence.
Nature communicationsIdentification of therapeutic targets for renal medullary carcinoma via integrated genomic and transcriptomic profiling.
Cell reports. MedicineManagement of Renal Cell Carcinoma of Variant Histology.
JCO oncology practiceRenal cell carcinoma unclassified with medullary phenotype: a case report and review of the literature.
Discover oncologyCase Report: Successful delivery following chemotherapy in a pregnant patient with metastatic SMARCB1-deficient renal medullary carcinoma.
Frontiers in oncologyUnclassifiable renal carcinoma with medullary phenotype and SMARCB1 deficiency: case report.
Frontiers in urologyComprehensive mRNA Expressional Analysis of SMARCB1-Deficient Renal Cell Carcinoma in Patients Without Hemoglobinopathies.
Genes, chromosomes & cancerVigorous physical activity as a potential environmental risk factor in renal medullary carcinoma.
Urologic oncologyDifferential Efficacy of Bevacizumab and Erlotinib in Preclinical Models of Renal Medullary Carcinoma and Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Molecular cancer therapeuticsPaediatric renal tumors: An insight into molecular characteristics, histomorphology and syndromic association.
World journal of nephrologyA phase 2 study of sacituzumab govitecan with or without atezolizumab in rare genitourinary tumors (SMART) - design and rationale.
Future oncology (London, England)Contemporary Biology, Management, and Outcomes of Renal Medullary Carcinoma in Children and Adults: A Pediatric Surgical Oncology Research Collaborative Study.
Pediatric blood & cancerSystemic Treatment of Locally Advanced or Metastatic Non-Clear Cell Renal Cell Carcinoma.
CancersSickle cell disease induces chromatin introversion and ferroptosis in CD8+ T cells to suppress anti-tumor immunity.
ImmunityA rare case of renal medullary carcinoma without sickle cell hemoglobinopathy in a Japanese woman.
Urology case reportsSMARCB1-deficient Medullary-Like Renal Cell Carcinoma Without SMARCB1/INI1 Gene Deletion.
International journal of surgical pathologyDifferentiating between renal medullary and clear cell renal carcinoma with a machine learning radiomics approach.
The oncologistSickle Cell Trait and Vascular Health: Insights into Complications and Management.
Cardiology in reviewHallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.
Nature reviews. UrologyImmune-Based and Novel Therapies in Variant Histology Renal Cell Carcinomas.
CancersCA-125 as a Biomarker in Renal Medullary Carcinoma: Integrated Molecular Profiling, Functional Characterization, and Prospective Clinical Validation.
Clinical cancer research : an official journal of the American Association for Cancer ResearchA novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis.
Acta neuropathologica communicationsSMARCB1-deficient renal medullary carcinoma with an EML4::ALK fusion gene in a Japanese woman.
Pathology internationalMetastatic SMARCB1-Deficient Renal Medullary Carcinoma without Hemoglobinopathy with Durable and Dramatic Response to Pembrolizumab plus Lenvatinib: Case Report.
Case reports in oncologyThe Not-So-Benign Sickle Cell Trait: A Case of Renal Medullary Carcinoma.
Journal of community hospital internal medicine perspectivesClinical Characteristics, Management, and Outcomes of Patients with Renal Medullary Carcinoma: A Single-center Retrospective Analysis of 135 Patients.
European urology oncologyFinal Results From a Phase I Trial and Expansion Cohorts of Cabozantinib and Nivolumab Alone or With Ipilimumab for Advanced/Metastatic Genitourinary Tumors.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyClinical T1/2 renal cell carcinoma: multiparametric dynamic contrast-enhanced MRI features-based model for the prediction of individual adverse pathology.
World journal of surgical oncology[SMARCB1-deficient renal medullary carcinoma with revealed by a supra-clavicular metastatic lymph node].
Annales de pathologieThe WHO 2022 Classification of Renal Neoplasms (5th Edition): Salient Updates.
CureusRadiation Therapy for the Management of Renal Medullary Carcinoma: A Multi-Case Study.
Clinical genitourinary cancerThe New WHO Category of "Molecularly Defined Renal Carcinomas": Clinical and Diagnostic Features and Management Implications.
Urologic oncologyRenal Medullary Carcinoma: The Zebra Amongst the Horses.
UrologyCT features based preoperative predictors of aggressive pathology for clinical T1 solid renal cell carcinoma and the development of nomogram model.
BMC cancerUpdate on Selected High-grade Renal Cell Carcinomas of the Kidney: FH-deficient, ALK-rearranged, and Medullary Carcinomas.
Advances in anatomic pathologyA Phase 2 Trial of Talazoparib and Avelumab in Genomically Defined Metastatic Kidney Cancer.
European urology oncologyAdvances in non-clear cell renal cell carcinoma management: From heterogeneous biology to treatment options.
International journal of cancerA Phase II Clinical Trial of Pembrolizumab Efficacy and Safety in Advanced Renal Medullary Carcinoma.
CancersRenal Medullary Carcinoma: A Surveillance, Epidemiology, and End Results (SEER) Analysis.
The Journal of surgical researchObesity and renal cell carcinoma: Biological mechanisms and perspectives.
Seminars in cancer biologyRenal Cell Carcinoma of Variant Histology: Biology and Therapies.
Hematology/oncology clinics of North AmericaSMARCB1 regulates a TFCP2L1-MYC transcriptional switch promoting renal medullary carcinoma transformation and ferroptosis resistance.
Nature communicationsTazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
Journal of the National Cancer InstituteNeddylation inhibition sensitises renal medullary carcinoma tumours to platinum chemotherapy.
Clinical and translational medicineSurgical and oncological management of renal medullary carcinoma in a young patient: a case report.
Frontiers in oncologySMARCB1 regulates the hypoxic stress response in sickle cell trait.
Proceedings of the National Academy of Sciences of the United States of AmericaGemcitabine plus platinum-based chemotherapy in combination with bevacizumab for kidney metastatic collecting duct and medullary carcinomas: Results of a prospective phase II trial (BEVABEL-GETUG/AFU24).
European journal of cancer (Oxford, England : 1990)[Collecting duct carcinoma and renal medullary carcinoma in the age of new therapies].
Bulletin du cancerDiagnostic challenges of renal medullary carcinoma and the role for cytologic assessment: Case report and literature review.
Journal of clinical laboratory analysisNew insights in the new WHO classification of adult renal tumors.
Ceskoslovenska patologieUpper ureteral calculi complicating severe hydronephrosis and renal medullary carcinoma in an elderly Chinese woman.
Asian journal of surgeryRenal Medullary Carcinomas Harbor a Distinct Methylation Phenotype and Display Aberrant Methylation of Genes Related to Early Nephrogenesis.
CancersMalignant rhabdoid tumor: Cyto-histologic correlation and immunohistochemical characterization of a rare pediatric malignancy and its differential diagnoses.
Annals of diagnostic pathologySMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities.
CancersMolecular Characterization of the Tumor Microenvironment in Renal Medullary Carcinoma.
Frontiers in oncologyRecent Advances in Renal Medullary Carcinoma.
International journal of molecular sciencesAdvanced nccRCC: what therapeutic options in 2022?
Bulletin du cancerMetastatic Renal Medullary and Collecting Duct Carcinoma in the Era of Antiangiogenic and Immune Checkpoint Inhibitors: A Multicentric Retrospective Study.
CancersImmunotherapy for SMARCB1-Deficient Sarcomas: Current Evidence and Future Developments.
BiomedicinesApproach for reclassification of collecting duct carcinoma and comparative histopathological analysis with SMARCB1/INI1-deficient renal cell carcinoma and fumarate hydratase-deficient renal cell carcinoma.
Human pathologyCase Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma.
Frontiers in medicine[Anaplastic lymphoma kinase-translocation renal cell carcinoma: clinical and pathological analysis].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAssociation of High-Intensity Exercise with Renal Medullary Carcinoma in Individuals with Sickle Cell Trait: Clinical Observations and Experimental Animal Studies.
CancersEfficacy and safety of gemcitabine plus doxorubicin in patients with renal medullary carcinoma.
Clinical genitourinary cancer[SMARCB1(INI1)-deficient renal cell carcinoma: medullary and beyond : Evolving concepts].
Der PathologeCombination Therapy With Bortezomib in Renal Medullary Carcinoma: A Case Series.
Clinical genitourinary cancerHaplotype-resolved germline and somatic alterations in renal medullary carcinomas.
Genome medicine"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
Urologic oncologyRenal Medullary Carcinoma in an Adolescent With Unknown Sickle Cell Trait.
CureusEfficacy and Safety of Bevacizumab Plus Erlotinib in Patients with Renal Medullary Carcinoma.
Cancers"Bird's eye" cells in a pericardial effusion: Metastatic renal medullary carcinoma.
Diagnostic cytopathologyTowards a new WHO classification of renal cell tumor: what the clinician needs to know-a narrative review.
Translational andrology and urologyNovel Patient Metastatic Pleural Effusion-Derived Xenograft Model of Renal Medullary Carcinoma Demonstrates Therapeutic Efficacy of Sunitinib.
Frontiers in oncologySWI/SNF-deficient neoplasms of the genitourinary tract.
Seminars in diagnostic pathologyComprehensive genomic profiling of metastatic collecting duct carcinoma, renal medullary carcinoma, and clear cell renal cell carcinoma.
Urologic oncologyProceedings of the North American Society of Head and Neck Pathology, Baltimore, MD, March 17, 2021: The Mistakes I Made When I Stepped Out of My Neck of the Woods.
Head and neck pathologyIntegrase Interactor 1 (INI-1) Deficient Renal Cell Carcinoma.
CureusNew developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncThe Differential Diagnosis of Medullary-Based Renal Masses.
Archives of pathology & laboratory medicineSystemic Therapies for the Management of Non-Clear Cell Renal Cell Carcinoma: What Works, What Doesn't, and What the Future Holds.
Clinical genitourinary cancerComputed tomography features predicting aggressiveness of malignant parenchymal renal tumors suitable for partial nephrectomy.
Minerva urology and nephrologyUnusual Presentation of Renal Medullary Carcinoma With Undiagnosed Sickle Cell Trait.
CureusMolecular hallmarks of renal medullary carcinoma: more to c-MYC than meets the eye.
Molecular & cellular oncologyA prospective study of pediatric and adolescent renal cell carcinoma: A report from the Children's Oncology Group AREN0321 study.
CancerRe: Renal medullary carcinoma and its association with sickle cell trait: a case report and literature review.
Current oncology (Toronto, Ont.)Renal medullary carcinoma involving serous cavity fluids: a cytomorphologic study of 12 cases.
Journal of the American Society of CytopathologyComprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma.
Cancer cellRenal Medullary Carcinoma on Dual-Time Point FDG PET/CT Imaging.
Clinical nuclear medicineNovel renal medullary carcinoma cell lines, UOK353 and UOK360, provide preclinical tools to identify new therapeutic treatments.
Genes, chromosomes & cancerRenal medullary carcinoma and its association with sickle cell trait: a case report and literature review.
Current oncology (Toronto, Ont.)Renal medullary carcinoma masquerading as renal infection: a case report.
BMC nephrology5-(Hydroxymethyl)furfural restores low-oxygen rheology of sickle trait blood in vitro.
British journal of haematologyNovel therapy for pediatric and adolescent kidney cancer.
Cancer metastasis reviewsA case of renal cell carcinoma unclassified with medullary phenotype without detectable gene deletion.
Pathology internationalRenal Medullary Carcinoma With Metastasis to the Temporal Fossa and Orbit.
Ophthalmic plastic and reconstructive surgeryTargeted next-generation sequencing revealed distinct clinicopathologic and molecular features of VCL-ALK RCC: A unique case from an older patient without clinical evidence of sickle cell trait.
Pathology, research and practiceClinicopathologic study of deciduoid mesothelioma using SMARCB1/INI1 immunohistochemistry and fluorescence in situ hybridization.
Human pathologyTargeting proteostasis and autophagy in SMARCB1-deficient malignancies: where next?
OncotargetDistinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncRenal medullary carcinomas depend upon SMARCB1 loss and are sensitive to proteasome inhibition.
eLifeRenal Medullary Carcinoma.
Archives of pathology & laboratory medicineRenal medullary carcinoma in a young mixed-race man in Japan.
Pathology internationalp53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors.
Cancer cellRenal Medullary Carcinoma: a Report of the Current Literature.
Current urology reportsA review of ALK-rearranged renal cell carcinomas with a focus on clinical and pathobiological aspects.
Polish journal of pathology : official journal of the Polish Society of PathologistsAtypical presentation of renal medullary carcinoma: A case report and review of the literature.
Urology case reportsUpdated Recommendations on the Diagnosis, Management, and Clinical Trial Eligibility Criteria for Patients With Renal Medullary Carcinoma.
Clinical genitourinary cancerMetastatic Renal Medullary Carcinoma Treated With Immune Checkpoint Inhibitor: Case Report and Literature Review.
Clinical genitourinary cancerThe classification of pediatric and young adult renal cell carcinomas registered on the children's oncology group (COG) protocol AREN03B2 after focused genetic testing.
CancerAutologous stem-cell transplant for metastatic renal medullary carcinoma.
Pediatric blood & cancerRenal Cell Carcinoma, Unclassified with Medullary Phenotype and Synchronous Renal Clear Cell Carcinoma Present in a Patient with No Sickle Cell Trait/Disease: Diagnostic and Therapeutic Challenges.
Anticancer researchSWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients.
Human pathologyHigh grade infiltrative adenocarcinomas of renal cell origin: New insights into classification, morphology, and molecular pathogenesis.
Pathology internationalA Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research[Clinicopathologic features with collecting duct carcinoma of kidney: report of 10 cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRenal medullary carcinoma: a nearly fatal malignancy specifically affecting patients with a so-called benign condition.
CEN case reportsReappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
The American journal of surgical pathologySMARCB1-deficient Tumors of Childhood: A Practical Guide.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietySarcomatoid Renal Cell Carcinoma in an Adolescent with Sickle Cell Anaemia.
Case reports in oncological medicinePotential new strategies for the treatment of renal medullary carcinoma.
BJU internationalRenal Medullary Carcinoma Associated with Sickle Cell Trait.
Radiographics : a review publication of the Radiological Society of North America, IncPredictive role of PD-L1 expression in the response of renal Medullary carcinoma to PD-1 inhibition.
Journal for immunotherapy of cancerRenal cell carcinoma, unclassified with medullary phenotype: poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma.
Human pathologyRenal Medullary Carcinoma: Establishing Standards in Practice.
Journal of oncology practiceRenal Medullary Carcinoma: The Kidney Cancer That Affects Individuals With Sickle Cell Trait and Disease.
Journal of oncology practiceImaging of renal medullary carcinoma in children and young adults: a report from the Children's Oncology Group.
Pediatric radiologyGenomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.
Clinical genitourinary cancerRenal medullary carcinoma: A national analysis of 159 patients.
Pediatric blood & cancerRenal medullary carcinoma with an ophthalmic metastasis.
Urology annalsImaging of Renal Medullary Carcinoma.
Journal of kidney cancer and VHLRenal Medullary Carcinoma; A Rare Entity.
Iranian journal of medical sciencesRenal Medullary Carcinoma and Sickle Cell Trait: A Push for Early Diagnosis and Intervention Report of Two Cases.
Journal of the National Medical AssociationRenal Medullary Carcinoma with an Aggressive Clinical Course: A Case Report and Review of the Literature.
Case reports in oncologyClinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas.
Advances in anatomic pathologyClinical and immunologic correlates of response to PD-1 blockade in a patient with metastatic renal medullary carcinoma.
Journal for immunotherapy of cancerPlatinum plus bortezomib for the treatment of pediatric renal medullary carcinoma: Two cases.
Pediatric blood & cancerManagement and outcomes of patients with renal medullary carcinoma: a multicentre collaborative study.
BJU internationalPediatric renal and genitourinary tract tumors and the contributions of Dr. Louis "Pepper" Dehner therewith.
Seminars in diagnostic pathologyIs renal medullary carcinoma the seventh nephropathy in sickle cell disease? A multi-center Nigerian survey.
African health sciencesImaging Manifestations of Hematologic Diseases with Renal and Perinephric Involvement.
Radiographics : a review publication of the Radiological Society of North America, IncClinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases.
Oncology lettersUnclassified Renal Cell Carcinoma With Medullary Phenotype Versus Renal Medullary Carcinoma: Lessons From Diagnosis in an Italian Man Found to Harbor Sickle Cell Trait.
Urology case reportsIs There a Role for Antiangiogenic Therapy in Renal Medullary Carcinoma?
Pediatric blood & cancerGenitourinary manifestations of sickle cell disease.
Cleveland Clinic journal of medicineBalanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas.
European urologyValidation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma.
Diagnostic pathologyClinical outcome and prognostic factors in renal medullary carcinoma: A pooled analysis from 18 years of medical literature.
Canadian Urological Association journal = Journal de l'Association des urologues du CanadaRenal medullary carcinoma and sickle cell trait: A systematic review.
Pediatric blood & cancerReview of renal cell carcinoma with rhabdoid features with focus on clinical and pathobiological aspects.
Polish journal of pathology : official journal of the Polish Society of PathologistsCharacterization of adolescent and pediatric renal cell carcinoma: A report from the Children's Oncology Group study AREN03B2.
CancerDistal nephron neoplasms.
Seminars in diagnostic pathologyTherapeutic approach guided by genetic alteration: use of MTOR inhibitor in renal medullary carcinoma with loss of PTEN expression.
Cancer biology & therapySickle cell disease: renal manifestations and mechanisms.
Nature reviews. Nephrology[Renal medullary carcinoma in a young white adult without sickle cell trait or disease].
RadiologiaMalignant renal tumors in children.
Journal of kidney cancer and VHLAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Carcinoma medular renal.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Carcinoma medular renal
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Relapsed rhabdoid tumours and other non-nephroblastoma childhood and adolescent kidney tumours: perspectives from the HARMONICA collaboration.
- Unclear territory: navigating metastatic nonclear cell renal cell carcinoma.
- Clinicopathological features of SMARCB1/INI1-deficient medullary-like renal cell carcinoma: Report of 3 cases and literature review.
- An update on the treatment paradigm for non-clear cell renal cell carcinoma.
- Molecularly defined renal cell carcinomas: practical approaches for surgical pathologists.
- Gemcitabine-Induced Lung Injury Masquerading as ARDS in a Patient With Metastatic Renal Medullary Carcinoma: A Case Report.
- Renal medullary carcinoma: a systematic review of clinical and radiological findings.
- Tazemetostat, an EZH2 inhibitor, in solid tumors harboring SWI/SNF alterations: a phase II basket study.
- Identifying new targets for the treatment of renal medullary carcinoma: from biological hallmarks to precision therapies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:319319(Orphanet)
- MONDO:0006260(MONDO)
- GARD:13175(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7312494(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
