É uma condição genética hereditária (transmitida de pais para filhos) que aumenta muito a chance de uma pessoa ter diversos tipos de câncer. Ela é causada por alterações (mutações) no gene TP53. Entre os tipos de câncer que podem surgir estão: câncer de mama, sarcomas de tecidos moles, osteossarcomas (câncer nos ossos), tumores cerebrais, carcinoma adrenocortical (câncer na glândula adrenal) e leucemias.
Introdução
O que você precisa saber de cara
É uma condição genética hereditária (transmitida de pais para filhos) que aumenta muito a chance de uma pessoa ter diversos tipos de câncer. Ela é causada por alterações (mutações) no gene TP53. Entre os tipos de câncer que podem surgir estão: câncer de mama, sarcomas de tecidos moles, osteossarcomas (câncer nos ossos), tumores cerebrais, carcinoma adrenocortical (câncer na glândula adrenal) e leucemias.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T] (PubMed:37943659). Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, in
NucleusNucleus, PML bodyNucleus, nucleoplasm
Tumor predisposition syndrome 4
A disorder characterized by an increased risk for developing various types of benign and/or malignant neoplasms that arise at an accelerated rate and in different organs.
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein
CytoplasmNucleus
Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:29681526). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its
Nucleus, nucleoplasmCytoplasmNucleus, nucleolusNucleus
Medicamentos e terapias
Mecanismo: Mitochondrial complex I (NADH dehydrogenase) inhibitor
Variantes genéticas (ClinVar)
2,241 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,888 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
50 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 — Síndrome Li-Fraumeni
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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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Outros ensaios clínicos
25 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 890
Back pain in an adolescent: not just a sore spine!
Acute lymphoblastic leukaemia (ALL) can mimic diverse musculoskeletal conditions, often resulting in diagnostic delays. Genetic predisposition to various cancer syndromes further complicates the clinical picture, influencing disease presentation and treatment response. We report an adolescent boy who presented with a 2-month history of episodic fever, persistent low back pain and non-migratory joint pain, with a history of growth failure, developmental delay and seizures since childhood. There was a history of malignancy in multiple family members. The clinical examination revealed no features suggestive of systemic involvement. The joint examination revealed swelling around the knee joints. Initial work-up for chronic infections and autoimmune diseases was negative. Magnetic resonance imaging spine findings of multiple T2 hyperintense lesions warranted a bone marrow examination, which confirmed the diagnosis of Ph+ B- ALL. Molecular analysis revealed a pathogenic heterozygous missense variant in the TP53 gene, leading to the diagnosis of Li-Fraumeni syndrome. This case highlights the importance of recognizing musculoskeletal symptoms as a potential presentation of ALL. Early consideration of leukaemia in the differential diagnosis can prevent delays in treatment, ultimately improving outcomes.
Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.
Abnormal RNA splicing is an underrecognized driver of pathogenicity in germline TP53 - the cause of Li-Fraumeni syndrome (LFS). We re-evaluated exonic single-nucleotide variants (SNVs) that yield missense or synonymous changes for spliceogenic effects by integrating SpliceAI prediction, in-vitro minigene assays, and analysis of tumor RNA-seq from TCGA, and assessed genotype-phenotype correlations using clinical data from multiple databases and national registries. We identified 58 spliceogenic exonic SNVs (SE-SNVs) across the TP53 gene (40 missense, 18 synonymous). Experimental validation confirmed aberrant splicing for 15 out of 17 tested variants, most often through cryptic splice-site activation that introduced frameshifts and premature termination. Clinically, carriers of SE-SNVs previously considered as mild or of low-pathogenicity by protein-based assays showed earlier onset and LFS-signature cancers, indicating that splicing disruption can override amino-acid effects. The recurrent c.375 G > A (p.(Thr125 = )) showed heterogeneous effect: with both childhood/adolescent and adult onset, consistent with partial, variable retention of canonical splicing. These data reveal a substantial burden of spliceogenic pathogenicity in TP53 and strong support integrating splicing prediction, functional validation, and transcript-level evidence into variant interpretation and risk stratification in LFS.
Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
Pathogenic germline TP53 variants predispose to diverse Li-Fraumeni syndrome (LFS) phenotypes and a broad cancer spectrum, whereby carriers of hypomorphic variants cluster in a cohort with attenuated disease onset and an overrepresentation of breast cancer (BC). Recently, functional assays have gained importance among the criteria used to predict the pathogenicity of hereditary breast and ovarian cancer (HBOC) risk-gene variants. Experimental assays scoring p53 functions in transcription and growth control have contributed to variant classification, yet a significant fraction of TP53 variants remain of unknown significance (VUS). To understand whether non-canonical functions of p53 in the fidelity control of DNA replication may aid variant classification, we subjected 23 TP53 VUS and 20 control variants identified in the German Consortium for HBOC (GC-HBOC) to assays that monitor nascent DNA synthesis and recombination-mediated bypass of replication barriers. Our results reveal a clear functional separation between benign (B)/likely benign (LB) and pathogenic (P)/likely pathogenic (LP) variants in recombination measurements, with B/LB variants associated with high recombination frequencies and P/LP variants with low recombination frequencies. Importantly, 8/23 VUS exhibited activities within the B/LB or P/LP ranges and therefore emerge as candidates for revised classification. Variant-specific recombination activities showed significant correlations with functional scores from four earlier studies systematically analyzing canonical p53 functions. Differently, in DNA fiber spreading assays B/LB and P/LP variants showed a more heterogeneous pattern and thus did not consistently recapitulate replication slow-down and acceleration observed in the presence and absence of p53, respectively. Structural modeling of separation-of-function (SOF) variants in transcription and recombination indicates varying effects on protein stability and the conformation of surface-exposed regions, affecting for example, the flexibility of Loop 1 (L1). Intriguingly, individual SOF variants suggest that loss-of-function (LOF) in recombination may drive BC, underscoring the predictive power of this assay for low-penetrance TP53 variants.
Colorectal neoplasia rates in Li Fraumeni Syndrome.
Individuals with Li Fraumeni Syndrome (LFS), a cancer predisposition syndrome caused by TP53 pathogenic germline variants (PGV), have an increased risk of colorectal cancer (CRC). However, limited data exists on colonoscopy metrics, including total neoplasia detection rates, in LFS patients. We conducted a retrospective cohort study of colorectal neoplasia incidence and characteristics in 663 individuals with LFS. We determined total neoplasia detection rate, adenoma detection rate (ADR), advanced ADR, serrated lesion detection rate (SDR) and CRC detection rate, stratified by age, gender, and PGV subtype, in 311 surveillance colonoscopies from 206 adults performed January 2019 - August 2024. CRC was reported in 4.5% of 663 adults and 0.8% of 124 pediatric patients with LFS. Among 206 adults undergoing colonoscopy, total neoplasia detection rate, ADR, SDR, advanced precancerous polyp detection rate, and CRC detection rate were 37%, 27%, 9.3%, 4.5%, and 0.64% respectively. Detection rates were similar between loss of function and hypomorphic PGVs. Adults aged 45-75 had higher total neoplasia detection rate, ADR, advanced ADR, SDR, and CRC detection rate than those aged 25-45. Male sex was associated with increased total neoplasia detection rate (53.7% vs. 30.7%, p = 0.0004), ADR (41.2% vs. 22.1%, p = 0.0013), and advanced ADR (7.5% vs. 1.3%, p=0.0105). LFS patients have comparable ADR and higher SDR to average risk adults despite earlier, more frequent surveillance, irrespective of TP53 PGV subtype. Our data support current recommendations for earlier and more frequent colonoscopy surveillance than average-risk guidelines, across LFS phenotypes.
A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.
Cell-free DNA analysis via methylation and fragmentation profiling has advanced minimally invasive cancer detection; however, broader application has been limited by small cohorts and inconsistent data processing. Here we collated 1,074 cfMeDIP-seq profiles across 9 studies, comprising cancer samples from 11 cancer types, carriers of Li-Fraumeni syndrome and healthy controls. We developed a uniform computational workflow to mitigate technical and biological confounders across cohorts. This analysis identified 14,202 pancancer differentially methylated regions for cancer detection, along with cancer-specific markers for subtype monitoring. Fragmentomic profiling revealed distinguishing differences in 5' end motifs, fragment lengths and nucleosome footprints across cancers. Integrating methylome and fragmentome features enhanced cancer detection and classification. Validation in 220 independent samples, including 3 cancer types absent from the primary dataset, confirmed the robustness of our findings. Altogether, this work provides a pancancer cell-free DNA resource of 1,294 samples to support future methylome and fragmentome studies.
Publicações recentes
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Liquid Biopsy for Cancer Screening in Li-Fraumeni Syndrome: Interest in Clinical Trial and Reported Barriers to Standard of Care Screening.
🥈 ObservacionalOpportunistic identification of Li-Fraumeni syndrome through germline TP53 variant detection from routine tumour next-generation sequencing: An analysis of 1394 cases.
Genotoxic Chemotherapy in Li-Fraumeni Syndrome: Molecular Mechanisms, Clinical Consequences, and Alternative Therapeutic Strategies.
Young-onset rectal adenocarcinoma in Li-Fraumeni syndrome: Diagnostic contribution of NBI and pit pattern analysis.
📚 EuropePMC662 artigos no totalmostrando 199
Back pain in an adolescent: not just a sore spine!
EcancermedicalscienceNeurogenetic tumor syndromes: The current landscape of workup and treatment.
Neuro-oncology practiceA brief feasibility report on an online psychosocial support intervention for adults with Li-Fraumeni syndrome.
Frontiers in psychologyTumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.
European journal of human genetics : EJHGEvaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
Cell death & diseaseExceptional Response to a Single Dose of Pembrolizumab as Salvage Therapy for Metastatic Adrenocortical Carcinoma.
JCEM case reportsSIGNIFIED: whole-body MRI screening in Li-Fraumeni syndrome in the UK.
ESMO openColorectal neoplasia rates in Li Fraumeni Syndrome.
The American journal of gastroenterologyLate-Onset Li-Fraumeni Syndrome-Like Phenotype Presenting With Synchronous Lung Adenocarcinoma and Ovarian High-Grade Serous Carcinoma: A Case Report.
CureusConcordance analysis of DNA and RNA profiling: The MD Anderson IMPACT2 study in precision oncology.
Signal transduction and targeted therapyA pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.
Nature cancerHereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
International journal of molecular sciencesEvaluation of Germline Pathogenic Variant of TP53 Gene in an Iranian Pedigree with Familial Sarcoma: A Case Report.
Advanced biomedical researchRadiotherapy in Li-Fraumeni Syndrome: From Biological Concern to Personalized Clinical Decision-Making.
CureusUnraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Orphanet journal of rare diseasesUltra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome.
bioRxiv : the preprint server for biologyAttenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.
Familial cancerDigital Health Tools Embedded in a Cancer Genetics Clinic: Observational Study.
JMIR formative researchMosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue.
Molecular genetics & genomic medicineNon-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.
European journal of human genetics : EJHGPreclinical drug screen identifies WEE1 inhibitor and vinca alkaloid as a combination treatment concept for Li-Fraumeni syndrome medulloblastoma.
iScienceSubsequent primary and secondary neoplasms in childhood cancer survivors.
Polish journal of radiologyUrgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.
Journal of the National Cancer InstituteRadiation-induced sarcoma after glioma resection in patients with Li-Fraumeni syndrome: illustrative cases.
Journal of neurosurgery. Case lessonsClonal Profiles in a Li-Fraumeni Syndrome Patient With SHH Medulloblastoma: Clonal Evolution, Genomics, and Clinical Implications.
Pediatric blood & cancerAdrenocortical Carcinoma With Right Atrial Extension in a Three-Year-Old Child: A Case Report.
CureusThoracic chordoma following intracranial meningioma in a patient with a novel germline SMARCE1 variant.
European journal of medical genetics[Establishment of a Treatment System for Hereditary Breast Cancer in Our Hospital].
Gan to kagaku ryoho. Cancer & chemotherapyGenetic Profiling of Mammary Periductal Stromal Tumors With Histologic Correlation Highlights High-Grade and Low-Grade Groups and Similarities to Phyllodes Tumors.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncGenetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
Archives of gynecology and obstetricsApp supporting surveillance for (likely) pathogenic TP53 variant carriers: acceptance among a German cohort.
Archives of gynecology and obstetricsClinical Features and Treatment Strategies of Li-Fraumeni Syndrome Patients With Inherited TP53 Mutations.
Molecular genetics & genomic medicineThe p53 R181C mutation accumulates through impaired deacetylation by Sirt1 and facilitates tumor development.
Communications biologyMyxoid Pleomorphic Liposarcoma: A Review and Update.
Cancer genomics & proteomicsOral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.
Oral surgery, oral medicine, oral pathology and oral radiologyGenotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.
Cancer scienceClinical Significance of Molecular Genetic Analysis in Diffuse Intrinsic Pontine Glioma: Two Case Reports.
Pediatric blood & cancerDescription of six cases of melanoma in 512 patients with germline pathogenic variants in the TP53 gene.
Familial cancerPrecision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.
Current oncology (Toronto, Ont.)Mice carrying nonsense mutant p53 develop frequent multicentric or metastatic tumors.
Cell death & diseaseNeoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
EBioMedicine[Analysis of clinicopathological and genetic characteristics of three cases of Li-Fraumeni syndrome].
Zhonghua bing li xue za zhi = Chinese journal of pathologyCharacterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni Syndrome.
PloS oneSkin cancer risk in hereditary mixed cancer syndromes.
Hereditary cancer in clinical practicePsychosocial burdens and unmet supportive care needs of partners and relatives of individuals with Li-Fraumeni syndrome: A mixed-methods study.
Journal of genetic counselingMaking Sense of Missense: Assessing and Incorporating the Functional Impact of Constitutional Genetic Testing.
Children (Basel, Switzerland)Transfer Learning for Survival-based Clustering of Predictors with an Application to TP53 Mutation Annotation.
bioRxiv : the preprint server for biologyConcerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome.
European journal of human genetics : EJHGClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySurgical Management and Outcomes in Pediatric Adrenocortical Carcinoma: A Pediatric Surgical Oncology Research Collaborative Study.
Annals of surgical oncologySegregation of the rare TP53 germline missense variant c.314G>T, p.Gly105Val in Algerian family with Li-Fraumeni Syndrome: First report.
Cancer geneticsGermline Predisposition to Pediatric Lymphoid Malignancies: Genetic Tumor Syndromes Identified in a Single-Center Study.
Clinical laboratoryGenomic Instability in Hereditary Breast Cancer: Clinical and Nursing Implications for Risk Assessment and Targeted Therapeutic Strategies.
Seminars in oncology nursingAn overview of the diagnosis and management of Choroid Plexus tumors.
Advances in cancer researchMelanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition.
Pediatric blood & cancerKnowledge Mobilization Efforts by Global Pediatric Oncology Civil Society Organizations: An Environmental Scan Protocol.
Sage open pediatricsHypopharyngeal squamous cell carcinoma in a patient with germline TP53 c.743G > A (p.Arg248Gln) variant: a case report.
Journal of medical case reportsChanges in the approach to the analysis and evaluation of inherited pathogenic TP53 variants.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiReconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyMultiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.
Journal of clinical medicineProspective Study of Annual Whole-Body Magnetic Resonance Imaging as Part of a Multimodality Screening Program for Individuals With Li-Fraumeni Syndrome.
JCO precision oncologyA quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Genome medicineOptimizing whole-body MRI for early cancer detection in Li-Fraumeni syndrome: a prospective bicentric study.
European radiology[Unexpected liver tumors in a patient with Li-Fraumeni syndrome].
Annales de pathologieTP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.
Scientific reportsShared decision-making in radiology: leadership levers for patient-centred imaging.
BMJ leaderRapidly Progressive Metastatic Adrenocortical Carcinoma With Oncocytic Features in a Young Male: A Case Report.
CureusCancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide.
Journal of neuroimaging : official journal of the American Society of NeuroimagingTP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Nature communicationsRevisiting pediatric HGGs and PNETs according to the WHO CNS5 criteria: A clinical and genomic retrospective analysis.
Neuro-oncology advancesAqueductal posterior fossa type B ependymoma in Li-Fraumeni syndrome.
Journal of neuropathology and experimental neurologyLi-Fraumeni Syndrome-Associated p53 Variants Disrupt Kidney and Urinary Tract Development.
medRxiv : the preprint server for health sciencesRelational Aspects to Screening-Associated Distress Among Individuals With Li-Fraumeni Syndrome: "The All-Clear for Me Is Good. The All-Clear for My Kids Is Great".
Qualitative health researchA phase I study of AZD8186 in combination with docetaxel in patients with PTEN-mutated or PIK3CB-mutated advanced solid tumors.
ESMO openProspective characterization of germline variants in patients with gliomas and glioneuronal tumors.
Acta neuropathologicaNavigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome.
Familial cancerMultiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes.
Journal of medical geneticsMultihit Somatic Mosaicism of TP53 Pathogenic Variants in a Patient Mimicking Li-Fraumeni Syndrome.
JCO precision oncologyDissecting cross-lineage tumourigenesis under p53 inactivation through single-cell multi-omics and spatial transcriptomics.
Clinical and translational medicinePeripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers.
Nature communicationsLi Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.
ESMO openVariation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
bioRxiv : the preprint server for biologyIn-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.
Scientific reportsA rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [18F]-fluorodeoxyglucose positron emission tomography/computed tomography.
Pediatric radiologyMetastatic Pheochromocytoma in a Patient With Li-Fraumeni Syndrome.
JCEM case reportsDominant-Negative Effects of p53 R337 Variants in Li-Fraumeni Syndrome: Impact on Tetramer Formation and Transcriptional Activity.
Chembiochem : a European journal of chemical biology'I told them they had to get tested, and they did': social influence among siblings with Li-Fraumeni syndrome.
Psychology & healthCharacteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
HGG advancesRisk factors for secondary neoplasms in retinoblastoma survivors: a systematic literature review.
Expert review of anticancer therapyEvaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome.
Journal of medical geneticsp53 prophylactic therapy for cancer prevention.
Cell death and differentiationGermline TP53 p.R337H and XAF1 p.E134* Variants: Prevalence in Paraguay and Comparison with Rates in Brazilian State of Paraná and Previous Findings at the Paraguayan-Brazilian Border.
Current oncology (Toronto, Ont.)Epithelial Abnormalities in the High-Risk Fallopian Tube of a Rare TP53/BRCA2 Li-Fraumeni Syndrome Patient With Multiple Tumors.
JCO precision oncologyTransmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.
CancerThe argument for screening programs in previvors with Li-Fraumeni syndrome.
Expert review of anticancer therapyHematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.
JCO precision oncologyAllergic Reaction to a Bovine-Derived Dural Graft without Eosinophilic Meningitis : A Case Report and Literature Review.
Journal of Korean Neurosurgical SocietyDeciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
International journal of cancerOptimizing shared decision-making for risk-reducing mastectomy in women with Li-Fraumeni syndrome using patient-reported outcome measures.
Scientific reportsPaediatric HeartMate 3 implant due to anthracycline-induced cardiomyopathy.
Multimedia manual of cardiothoracic surgery : MMCTSCancer Predisposition Syndromes Associated with Most Common Pediatric Solid Tumors.
Surgical pathology clinicsDeciphering TP53 Mosaic Variants on Germline Biomarker Testing: Implications for Oncology Nurses.
Clinical journal of oncology nursingUK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.
Journal of medical geneticsLi-Fraumeni Syndrome : Current Strategies and Future Perspectives.
Journal of Korean Neurosurgical SocietyClinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.
Molecular genetics and genomics : MGGPaediatric urachal rhabdomyosarcoma: the role of radiotherapy about a case report and review.
EcancermedicalscienceTargeting pediatric adrenocortical carcinoma: Molecular insights and emerging therapeutic strategies.
Cancer treatment reviewsAdjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.
CancersEarly-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.
Internal medicine (Tokyo, Japan)Myxoid liposarcoma of thyroid in a 10-year-old child with Li-Fraumeni syndrome: A case report and review of literature.
Journal of cancer research and therapeuticsOncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.
Acta cytologicaUtility of Whole-Body Magnetic Resonance Imaging Surveillance in Children and Adults With Cancer Predisposition Syndromes: A Retrospective Study.
JCO precision oncology[Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].
Magyar onkologiaCorrigendum to "HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome" [Eur J Cancer 211 (2024) 114307].
European journal of cancer (Oxford, England : 1990)Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Clinical cancer research : an official journal of the American Association for Cancer ResearchA systematic review of high-grade glioma associated with Li-Fraumeni syndrome.
Neurosurgical reviewRadiotherapy results in decreased time to second cancer in children with Li Fraumeni syndrome.
Journal of the National Cancer InstituteMis-splicing drives loss of function of p53E224D point mutation.
PloS onePan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency.
Nature communicationsPancreatic Cancer Risk and Screening Outcomes in Li-Fraumeni Syndrome.
PancreasClinical Characteristics and Chemosensitivity in Germline TP53 Pathogenic Variant Cases Identified by Cancer Genomic Testing.
Cancer genomics & proteomicsBone tumors: a systematic review of prevalence, risk determinants, and survival patterns.
BMC cancerAssessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.
Hereditary cancer in clinical practice[EMERGING THERAPIES FOR LI-FRAUMENI SYNDROME AND RHABDOMYOSARCOMA: CAN CHAT GPT ASSESS THE THERAPIES IT SUGGESTS USING THE BRADFORD-HILL CRITERIA?].
HarefuahEGFR-Mutated Lung Adenocarcinoma With Li-Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report.
JTO clinical and research reportsPersonalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Lancet regional health. AmericasCancer risk in carriers of TP53 germline variants grouped into different functional categories.
JNCI cancer spectrumA case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Japanese journal of clinical oncologyCase review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.
Familial cancerBone sarcomas and cancer predisposition syndromes.
Bulletin du cancerExploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.
Journal of cancer research and clinical oncologyPediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome.
Acta neuropathologica communicationsTP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome medicineLi-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Journal of medical geneticsCharacterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families.
European journal of human genetics : EJHGNew Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.
Case reports in oncological medicineTP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
Journal of the National Cancer Institute[Research progress on pathogenic germline mutations in malignant tumors].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticstp53 R217H and R242H mutant zebrafish exhibit dysfunctional p53 hallmarks and recapitulate Li-Fraumeni syndrome phenotypes.
Biochimica et biophysica acta. Molecular basis of diseaseClustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
iScienceClinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.
The American journal of surgical pathologyTricuspid mass-curious case of Li-Fraumeni syndrome: A letter to the editor.
World journal of clinical casesLong-term survival in a patient with Li-Fraumeni syndrome-associated giant cell glioblastoma treated with nivolumab: illustrative case.
Journal of neurosurgery. Case lessonsCharacterization of sarcoma topography in Li-Fraumeni syndrome.
Frontiers in oncologyAdrenocortical tumors and hereditary syndromes.
Expert review of endocrinology & metabolismCase report: Efficacy of later-line fam-trastuzumab deruxtecan in a patient with triple-positive breast cancer with brain metastases.
Frontiers in oncologyWhat Is the Cost: Financial Toxicity and Screening Fatigue in Li-Fraumeni Syndrome.
Cancer prevention research (Philadelphia, Pa.)BRCA2 and TP53 Mutations in a Breast Cancer Patient: A Case Report and Review of the Literature.
CureusDouble Heterozygous Pathogenic Variants in TP53 and CHEK2 in Boy with Undifferentiated Embryonal Sarcoma of the Liver.
International journal of molecular sciencesLi-Fraumeni Syndrome: Narrative Review Through a Case Report with Ten Years of Primary Tumor Remission Associated with Sechium H387 07 Supplementation.
International journal of molecular sciencesComplexity in interpreting cardiac valve-associated thrombus from tumors in Li-Fraumeni syndrome.
World journal of clinical casesGenetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.
Seminars in hematologyOsteosarcoma patient with Li-Fraumeni syndrome: the first case report in Vietnam.
Frontiers in oncologyTP53 variants underlying pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission.
EJHaemCurrent insights and future directions of Li-Fraumeni syndrome.
Discover oncologyLi-Fraumeni-associated osteosarcomas: The French experience.
Pediatric blood & cancerThe spectrum of hematologic neoplasms in patients with Li-Fraumeni syndrome.
American journal of hematologyThe molecular genetics of adrenal cushing.
Hormones (Athens, Greece)Adrenocortical neoplasm in a 2-year-old child: Clinical approach and diagnostic imaging.
Radiology case reportsGenetic Predisposition for Gynecologic Cancers.
Clinical obstetrics and gynecologyCHEK2 mutation causes manifestations similar to Lynch syndrome and Li-Fraumeni syndrome.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverThe Prevalence of Cancer Predisposition Syndromes (CPSs) in Children with a Neoplasm: A Cohort Study in a Central and Eastern European Population.
GenesRelating to the Body Under Chronic Cancer Threat: Implications for Psychosocial Health Among Adolescents and Young Adults with Cancer Predisposition Syndromes.
Journal of adolescent and young adult oncologyHer2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study.
International journal of surgery case reportsGermline variant affecting p53β isoforms predisposes to familial cancer.
Nature communicationsOrthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies.
World journal of clinical casesLaparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.
Biomedical reportsGermline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.
Familial cancerHER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome.
European journal of cancer (Oxford, England : 1990)A dual biomarker in non-small cell lung cancer that predicts Li Fraumeni syndrome : Lung cancer and Li Fraumeni.
Familial cancerValue of Engagement in Digital Health Technology Research: Evidence Across 6 Unique Cohort Studies.
Journal of medical Internet researchImaging features of pediatric angiosarcomas: clinical, pathologic, and radiological review.
Pediatric radiologyGenetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.
LeukemiaCell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.
Nature communicationsDiagnostic challenges from conflicting results of tests and imaging.
World journal of clinical casesPatterns of Growth of Tumors in Li-Fraumeni Syndrome by Imaging: A Case Series.
Journal of pediatric hematology/oncologyThe Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.
Clinical cancer research : an official journal of the American Association for Cancer ResearchGeneration of two induced pluripotent stem cell lines from patients with Li-Fraumeni Syndrome carrying TP53 mutation.
Stem cell research"I Just Assumed This Was Already Being Done": Canadian Patient Preferences for Enhanced Data Sharing for Precision Oncology.
JCO precision oncologyPapillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome.
AACE clinical case reportsEGFR-mutated lung cancer as a secondary neoplasm in a patient with Li-Fraumeni syndrome: case report.
AME case reportsCharacterizing Lung Cancer in Li-Fraumeni Syndrome.
JAMA oncologyNarrative review on ethical and psychological issues raised by genetic and genomic testing in pediatric oncology care.
Journal of genetic counselingBaseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.
European radiologyOcular adnexal sebaceous carcinoma in a patient with Li-Fraumeni syndrome.
Orbit (Amsterdam, Netherlands)TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
GenesFunctional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li-Fraumeni syndrome.
Scientific reportsPerformance of LFSPRO TP53 germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probands.
medRxiv : the preprint server for health sciencesMarrow-ablative consolidation chemotherapy and molecular targeted therapy delivered in a risk-adapted manner for newly diagnosed children with choroid plexus carcinoma: A work in progress.
Neuro-oncology advancesAdrenal cortical carcinoma: Paediatric aspects - literature review.
Pediatric endocrinology, diabetes, and metabolismLi-Fraumeni Syndrome: Imaging Features and Guidelines.
Radiographics : a review publication of the Radiological Society of North America, IncSelective pressures of platinum compounds shape the evolution of therapy-related myeloid neoplasms.
Nature communicationsCase series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.
Breast cancer (Tokyo, Japan)Virilizing adrenocortical carcinoma in a female child of Li-Fraumeni syndrome.
Indian journal of pathology & microbiologyCase report: TP53 c.848G>A germline mutation as a possible screening target at initial diagnosis for acute lymphoblastic leukemia.
Hematology (Amsterdam, Netherlands)Overall approaches to cardiac tumors: Still an unsolved enigma?
World journal of clinical casesDiagnostic and Practical Challenges in Applying National Comprehensive Cancer Network Guidelines for Suspected Pathogenic TP53 Mosaicism.
JCO precision oncologyWhole-body MRI in oncology: acquisition protocols, current guidelines, and beyond.
La Radiologia medicaMetformin beyond type 2 diabetes: Emerging and potential new indications.
Diabetes, obesity & metabolismAssociações
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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.
- Back pain in an adolescent: not just a sore spine!
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.
- Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
- Colorectal neoplasia rates in Li Fraumeni Syndrome.
- A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
- Liquid Biopsy for Cancer Screening in Li-Fraumeni Syndrome: Interest in Clinical Trial and Reported Barriers to Standard of Care Screening.
- Opportunistic identification of Li-Fraumeni syndrome through germline TP53 variant detection from routine tumour next-generation sequencing: An analysis of 1394 cases.
- Genotoxic Chemotherapy in Li-Fraumeni Syndrome: Molecular Mechanisms, Clinical Consequences, and Alternative Therapeutic Strategies.
- Young-onset rectal adenocarcinoma in Li-Fraumeni syndrome: Diagnostic contribution of NBI and pit pattern analysis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:524(Orphanet)
- OMIM OMIM:151623(OMIM)
- MONDO:0018875(MONDO)
- GARD:6902(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q187542(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
