Base de dados : MEDLINE
Pesquisa : C04.700.600 [Categoria DeCS]
Referências encontradas : 624 [refinar]
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[PMID]:29237527
[Au] Autor:Xie Y; Zhao WH; Hua Y; Sun Q; Wu PH
[Ad] Endereço:Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. zhaowh3212@126.com.
[Ti] Título:[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(12):1263-1266, 2017 Dec.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed with embryonal rhabdomyosarcoma (RMS) in the left submandibular region. His brother died of RMS, and his grandmother was diagnosed with breast cancer. TP53 gene mutation detection was performed in this patient and some family members, indicating a missense mutation in exon 8 of the patient: c.844C>T (p.Arg282Trp, heterozygous). TP53 mutation was also found in his mother and sister. The boy met the diagnostic criteria for LFS. Among pediatric patients, the most common LFS diseases include osteosarcoma, adrenocortical cancer, central nervous system tumor, and soft tissue tumor. Additionally, leukemia and lymphoma are also involved. LFS patients have a high risk to suffer secondary or even multiple cancers. Therefore, it is necessary to perform genetic detection for pediatric cancer patients, especially those with hereditary predisposition cancers. TP53 mutation often indicates poor prognosis, so it is important to take active treatment and systematic monitoring for LFS family.
[Mh] Termos MeSH primário: Síndrome de Li-Fraumeni/genética
Rabdomiossarcoma/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Genes p53
Seres Humanos
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE


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[PMID]:28973705
[Au] Autor:Pal T; Brzosowicz J; Valladares A; Wiesner GL; Laronga C
[Ad] Endereço:From the H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, and Department of Medicine, Vanderbilt University Medical Center and Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.
[Ti] Título:Identification and Management of Gene Carriers Detected Through Multigene Panel Testing.
[So] Source:South Med J;110(10):643-648, 2017 Oct.
[Is] ISSN:1541-8243
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 ( ) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in , we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available. METHODS: Among individuals with multigene panel testing (inclusive of the gene) who were part of either the Inherited Cancer Registry or the Vanderbilt Hereditary Cancer Registry protocols and were confirmed to have a P/LP variant in , pedigree was reviewed to characterize personal and family history, including original clinical context for genetic testing and whether they met clinical diagnostic criteria for . Subsequent cancer risk management options were documented through information collected in the study questionnaire and medical records. RESULTS: Among the 10 participants enrolled in one of the two registries with a germline P/LP variant detected through a multigene panel test, the most frequent clinical contexts for testing were genetic risk recognized in the survivorship care setting (50%) and a newly diagnosed breast cancer (40%). No participants met classic LFS diagnostic criteria and 6 of 10 met Chompret criteria (60%) at the time of testing. Among the seven participants in whom results of total body magnetic resonance imaging were available, only three had completely negative findings. The remaining four had findings, three of which were likely benign/incidental requiring additional follow-up, and one was consistent with metastatic disease in the vertebrae. CONCLUSIONS: Our findings suggest that individuals identified with a germline P/LP variant in through multigene panel tests have substantial variations in clinical phenotypes not previously recognized when only those with striking family histories suggestive of LFS were tested through targeted testing. The expansion of the clinical phenotype among carriers of a P/LP in in the era of multigene testing should be considered when making cancer risk management recommendations, which were developed based on patients with classic LFS.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Leiomiossarcoma/genética
Síndrome de Li-Fraumeni/genética
Segunda Neoplasia Primária/genética
Sistema de Registros
Neoplasias da Coluna Vertebral/diagnóstico por imagem
Proteína Supressora de Tumor p53/genética
[Mh] Termos MeSH secundário: Adulto
Neoplasias da Mama/patologia
Neoplasias da Mama/terapia
Feminino
Predisposição Genética para Doença
Testes Genéticos/métodos
Mutação em Linhagem Germinativa
Heterozigoto
Seres Humanos
Imagem por Ressonância Magnética
Mastectomia/métodos
Meia-Idade
Linhagem
Fenótipo
Radioterapia Adjuvante/utilização
Neoplasias da Coluna Vertebral/secundário
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171004
[St] Status:MEDLINE
[do] DOI:10.14423/SMJ.0000000000000711


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[PMID]:28911001
[Au] Autor:Franceschi S; Spugnesi L; Aretini P; Lessi F; Scarpitta R; Galli A; Congregati C; Caligo MA; Mazzanti CM
[Ad] Endereço:FPS - Fondazione Pisana per la Scienza, Pisa 56121, Italy.
[Ti] Título:Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
[So] Source:Carcinogenesis;38(9):938-943, 2017 Sep 01.
[Is] ISSN:1460-2180
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Li-Fraumeni syndrome is a clinically heterogeneous familial cancer predisposition syndrome with autosomal-dominant inheritance caused by heterozygous germline mutations in the TP53 gene. We here analyze the genetic background of a family with a 4-year-proband presented with a Li-Fraumeni tumor. The mother developed breast cancer at age 37 and the proband died at age 8. We performed Sanger sequencing and whole-exome sequencing on peripheral blood DNA from proband and relatives. Data analysis selected only high-quality score and depth reads, rare variants and protein impact involving missense, non-sense, frameshift and splice disrupt mutations. Disease implicated variants and predicted deleterious alterations were also chosen. TP53 genetic testing revealed a never reported TP53 deletion arose as de novo mutation in the mother and inherited by the proband. We then performed whole-exome analysis of the trio to uncover inherited variants from the father that potentially worsen the already altered genetic background in the proband. No pathogenic variants were inherited in autosomal recessive, de novo dominant or X-linked recessive manner. Comparing proband and father exome we detected 25 predicted deleterious variants including a nonsense mutation in ERCC3. Those inherited mutations are possible candidate modifiers linked to TP53, explaining the proband accelerated tumor onset compared to the mother and providing a possible explanation of the genetic anticipation event in this Li-Fraumeni family.
[Mh] Termos MeSH primário: Antecipação Genética
Neoplasias da Mama/genética
Síndrome de Li-Fraumeni/genética
Proteína Supressora de Tumor p53/genética
[Mh] Termos MeSH secundário: Carcinoma Adrenocortical/terapia
Pré-Escolar
DNA Helicases/genética
Proteínas de Ligação a DNA/genética
Exoma/genética
Feminino
Genes p53
Predisposição Genética para Doença
Testes Genéticos
Mutação em Linhagem Germinativa
Heterozigoto
Seres Humanos
Metástase Linfática
Masculino
Linhagem
Análise de Sequência de DNA
Deleção de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Tumor Suppressor Protein p53); 146045-44-5 (XPBC-ERCC-3 protein); EC 3.6.4.- (DNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE
[do] DOI:10.1093/carcin/bgx069


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[PMID]:28859040
[Au] Autor:McEvoy M; Robison N; Manley P; Yock T; Konopka K; Brown RE; Wolff J; Green AL
[Ad] Endereço:*Department of Pediatrics, University of Colorado School of Medicine †Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO ‡Pediatric Neuro-Oncology, Children's Hospital Los Angeles, Los Angeles, CA §Department of Pediatric Oncology, Dana-Farber Cancer Institute ∥Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA ¶Department of Pathology, University of Michigan School of Medicine, Ann Arbor, MI #Department of Pathology, UTHealth McGovern Medical School, Houston, TX **AbbVie, Chicago, IL.
[Ti] Título:Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma.
[So] Source:J Pediatr Hematol Oncol;39(8):e473-e475, 2017 Nov.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The management of choroid plexus carcinoma (CPC) is challenging and multifaceted. Here, we discuss a 3-year-old girl with CPC and Li-Fraumeni syndrome who achieved full remission after surgery and chemotherapy, with radiation therapy spared. At recurrence, we used a novel, standard-dose cytotoxic chemotherapy regimen, focal proton radiation therapy, and targeted agents based on morphoproteomic analysis to achieve long-term survival. We highlight the rationale for our therapy at recurrence, as well as the risk-benefit analyses necessary in decision making for these patients. Our strategy may be effective in managing other patients with recurrent CPC and Li-Fraumeni syndrome.
[Mh] Termos MeSH primário: Carcinoma/etiologia
Carcinoma/terapia
Neoplasias do Plexo Corióideo/etiologia
Neoplasias do Plexo Corióideo/terapia
Síndrome de Li-Fraumeni/complicações
[Mh] Termos MeSH secundário: Carcinoma/diagnóstico
Pré-Escolar
Neoplasias do Plexo Corióideo/diagnóstico
Terapia Combinada
Feminino
Genes p53
Mutação em Linhagem Germinativa
Seres Humanos
Síndrome de Li-Fraumeni/diagnóstico
Síndrome de Li-Fraumeni/genética
Síndrome de Li-Fraumeni/terapia
Imagem por Ressonância Magnética
Gradação de Tumores
Tomografia Computadorizada por Raios X
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000965


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[PMID]:28818333
[Au] Autor:Zhou R; Xu A; Gingold J; Strong LC; Zhao R; Lee DF
[Ad] Endereço:Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA; These authors cont
[Ti] Título:Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53.
[So] Source:Trends Pharmacol Sci;38(10):908-927, 2017 Oct.
[Is] ISSN:1873-3735
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Li-Fraumeni syndrome (LFS) is a rare hereditary autosomal dominant cancer disorder. Germline mutations in TP53, the gene encoding p53, are responsible for most cases of LFS. TP53 is also the most commonly mutated gene in human cancers. Because inhibition of mutant p53 is considered to be a promising therapeutic strategy to treat these diseases, LFS provides a perfect genetic model to study p53 mutation-associated malignancies as well as to screen potential compounds targeting oncogenic p53. In this review we briefly summarize the biology of LFS and current understanding of the oncogenic functions of mutant p53 in cancer development. We discuss the strengths and limitations of current LFS disease models, and touch on existing compounds targeting oncogenic p53 and in vitro clinical trials to develop new ones. Finally, we discuss how recently developed methodologies can be integrated into the LFS induced pluripotent stem cell (iPSC) platform to develop precision cancer therapy.
[Mh] Termos MeSH primário: Genes p53
Síndrome de Li-Fraumeni/tratamento farmacológico
Síndrome de Li-Fraumeni/genética
Neoplasias/tratamento farmacológico
Neoplasias/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Ensaios de Seleção de Medicamentos Antitumorais
Mutação em Linhagem Germinativa
Seres Humanos
Células-Tronco Pluripotentes Induzidas/efeitos dos fármacos
Células-Tronco Pluripotentes Induzidas/patologia
Síndrome de Li-Fraumeni/patologia
Neoplasias/patologia
Medicina de Precisão
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170819
[St] Status:MEDLINE


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[PMID]:28630366
[Au] Autor:Cooper-Jones B; Verstraten K
[Ad] Endereço:Vancouver, British Columbia.
[Ti] Título:A game-changer for hereditary cancer patients.
[So] Source:CMAJ;189(24):E843-E844, 2017 06 19.
[Is] ISSN:1488-2329
[Cp] País de publicação:Canada
[La] Idioma:eng
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Pesquisa em Genética
Síndrome de Li-Fraumeni/genética
[Mh] Termos MeSH secundário: Feminino
Genes p53/genética
Genética Médica
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE
[do] DOI:10.1503/cmaj.1095411


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[PMID]:28530852
[Au] Autor:Teepen JC; van Leeuwen FE; Tissing WJ; van Dulmen-den Broeder E; van den Heuvel-Eibrink MM; van der Pal HJ; Loonen JJ; Bresters D; Versluys B; Neggers SJCMM; Jaspers MWM; Hauptmann M; van der Heiden-van der Loo M; Visser O; Kremer LCM; Ronckers CM; DCOG LATER Study Group
[Ad] Endereço:Jop C. Teepen, Leontien C.M. Kremer, and Cécile M. Ronckers, Emma Children's Hospital/Academic Medical Center; Flora E. van Leeuwen and Michael Hauptmann, Netherlands Cancer Institute; Eline van Dulmen-den Broeder, VU University Medical Center; Helena J. van der Pal and Monique W.M. Jaspers, Academi
[Ti] Título:Long-Term Risk of Subsequent Malignant Neoplasms After Treatment of Childhood Cancer in the DCOG LATER Study Cohort: Role of Chemotherapy.
[So] Source:J Clin Oncol;35(20):2288-2298, 2017 Jul 10.
[Is] ISSN:1527-7755
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose Childhood cancer survivors (CCSs) are at increased risk for subsequent malignant neoplasms (SMNs). We evaluated the long-term risk of SMNs in a well-characterized cohort of 5-year CCSs, with a particular focus on individual chemotherapeutic agents and solid cancer risk. Methods The Dutch Childhood Cancer Oncology Group-Long-Term Effects After Childhood Cancer cohort includes 6,165 5-year CCSs diagnosed between 1963 and 2001 in the Netherlands. SMNs were identified by linkages with the Netherlands Cancer Registry, the Dutch Pathology Registry, and medical chart review. We calculated standardized incidence ratios, excess absolute risks, and cumulative incidences. Multivariable Cox proportional hazard regression analyses were used to evaluate treatment-associated risks for breast cancer, sarcoma, and all solid cancers. Results After a median follow-up of 20.7 years (range, 5.0 to 49.8 years) since first diagnosis, 291 SMNs were ascertained in 261 CCSs (standardized incidence ratio, 5.2; 95% CI, 4.6 to 5.8; excess absolute risk, 20.3/10,000 person-years). Cumulative SMN incidence at 25 years after first diagnosis was 3.9% (95% CI, 3.4% to 4.6%) and did not change noticeably among CCSs treated in the 1990s compared with those treated earlier. We found dose-dependent doxorubicin-related increased risks of all solid cancers ( P < .001) and breast cancer ( P < .001). The doxorubicin-breast cancer dose response was stronger in survivors of Li-Fraumeni syndrome-associated childhood cancers (leukemia, CNS, and non-Ewing sarcoma) versus survivors of other cancers ( P = .008). In addition, cyclophosphamide was found to increase sarcoma risk in a dose-dependent manner ( P = .01). Conclusion The results strongly suggest that doxorubicin exposure in CCSs increases the risk of subsequent solid cancers and breast cancer, whereas cyclophosphamide exposure increases the risk of subsequent sarcomas. These results may inform future childhood cancer treatment protocols and SMN surveillance guidelines for CCSs.
[Mh] Termos MeSH primário: Adultos Sobreviventes de Eventos Adversos na Infância/estatística & dados numéricos
Antineoplásicos/uso terapêutico
Neoplasias da Mama/epidemiologia
Segunda Neoplasia Primária/epidemiologia
Sarcoma/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Neoplasias Ósseas/terapia
Neoplasias do Sistema Nervoso Central/terapia
Quimiorradioterapia
Criança
Pré-Escolar
Ciclofosfamida/uso terapêutico
Doxorrubicina/uso terapêutico
Feminino
Seres Humanos
Ifosfamida/uso terapêutico
Incidência
Lactente
Recém-Nascido
Leucemia/terapia
Síndrome de Li-Fraumeni/terapia
Linfoma/terapia
Masculino
Meia-Idade
Países Baixos/epidemiologia
Modelos de Riscos Proporcionais
Sistema de Registros
Medição de Risco
Sarcoma/terapia
Neoplasias de Tecidos Moles/terapia
Fatores de Tempo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 80168379AG (Doxorubicin); 8N3DW7272P (Cyclophosphamide); UM20QQM95Y (Ifosfamide)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170523
[St] Status:MEDLINE
[do] DOI:10.1200/JCO.2016.71.6902


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[PMID]:28279309
[Au] Autor:Buzby JS; Williams SA; Schaffer L; Head SR; Nugent DJ
[Ad] Endereço:Hematology Research and Advanced Diagnostics Laboratories, CHOC Children's Hospital of Orange County, Orange, CA, USA. Electronic address: jbuzby@choc.org.
[Ti] Título:Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome.
[So] Source:Cancer Genet;211:9-17, 2017 Feb.
[Is] ISSN:2210-7762
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder where an oncogenic TP53 germline mutation is passed from parent to child. Tumor protein p53 is a key tumor suppressor regulating cell cycle arrest in response to DNA damage. Paradoxically, some mutant TP53 carriers remain unaffected, while their children develop cancer within the first few years of life. To address this paradox, response to UV stress was compared in dermal fibroblasts (dFb) from an affected LFS patient vs. their unaffected carrier parent. UV induction of CDKN1A/p21, a regulatory target of p53, in LFS patient dFb was significantly reduced compared to the unaffected parent. UV exposure also induced significantly greater p53[Ser15]-phosphorylation in LFS patient dFb, a reported property of some mutant p53 variants. Taken together, these results suggested that unaffected parental dFb may express an increased proportion of wild-type vs. mutant p53. Indeed, a significantly increased ratio of wild-type to mutant TP53 allele-specific expression in the unaffected parent dFb was confirmed by RT-PCR-RFLP and RNA-seq analysis. Hence, allele-specific expression of wild-type TP53 may allow an unaffected parent to mount a response to genotoxic stress more characteristic of homozygous wild-type TP53 individuals than their affected offspring, providing protection from the oncogenesis associated with LFS.
[Mh] Termos MeSH primário: Síndrome de Li-Fraumeni/genética
Proteína Supressora de Tumor p53/biossíntese
Proteína Supressora de Tumor p53/genética
[Mh] Termos MeSH secundário: Alelos
Criança
Pré-Escolar
Feminino
Predisposição Genética para Doença
Heterozigoto
Seres Humanos
Síndrome de Li-Fraumeni/metabolismo
Masculino
Pais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170718
[Lr] Data última revisão:
170718
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE


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[PMID]:28160093
[Au] Autor:Sinclair TJ; Thorson CM; Alvarez E; Tan S; Spunt SL; Chao SD
[Ad] Endereço:Department of Surgery, Stanford University School of Medicine, 300 Pasteur Drive Rm H3691, Stanford, CA, 94306, USA.
[Ti] Título:Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome.
[So] Source:Pediatr Surg Int;33(5):631-635, 2017 May.
[Is] ISSN:1437-9813
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:We present the case of a 15-year-old female with a right perineal mass that was found to be pleomorphic myxoid liposarcoma, a recently recognized, rare subtype of liposarcoma. The patient had a strong family history of malignancy and genetic screening revealed a pathogenic TP53 mutation consistent with Li-Fraumeni syndrome.
[Mh] Termos MeSH primário: Neoplasias dos Genitais Femininos/diagnóstico por imagem
Neoplasias dos Genitais Femininos/cirurgia
Síndrome de Li-Fraumeni/complicações
Lipossarcoma Mixoide/complicações
Lipossarcoma Mixoide/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Períneo/diagnóstico por imagem
Períneo/cirurgia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170205
[St] Status:MEDLINE
[do] DOI:10.1007/s00383-017-4063-x


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[PMID]:28154273
[Au] Autor:Yoshida T; Tajika M; Tanaka T; Ishihara M; Hirayama Y; Mizuno N; Hara K; Hijioka S; Imaoka H; Hieda N; Okuno N; Kinoshita T; Bhatia V; Shimizu Y; Yatabe Y; Yamao K; Niwa Y
[Ad] Endereço:Department of Gastroenterology, Aichi Cancer Center Hospital, Japan.
[Ti] Título:The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome.
[So] Source:Intern Med;56(3):295-300, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:A young woman with Li-Fraumeni syndrome (LFS) was referred to our hospital. On examination, multiple flat neoplasms were detected in addition to semi-pedunculated polyps. Restorative proctocolectomy was performed; one submucosal invasive cancer, two mucosal cancers, and several adenomas with high-grade dysplasia were detected. On immunohistochemical staining with p53, every part of all neoplasms, even the small adenomas, showed strong positive staining. Multiple flat neoplasms may be characteristic of patients with LFS and may have a much higher risk of rapid progression to invasive carcinomas than sporadic neoplasms. Thus, careful and frequent colonoscopy surveillance may be needed for patients with LFS.
[Mh] Termos MeSH primário: Adenocarcinoma/diagnóstico
Adenoma/diagnóstico
Neoplasias Colorretais/diagnóstico
Síndrome de Li-Fraumeni
[Mh] Termos MeSH secundário: Adenocarcinoma/diagnóstico por imagem
Adenocarcinoma/patologia
Adenocarcinoma/cirurgia
Adenoma/diagnóstico por imagem
Adenoma/patologia
Adenoma/cirurgia
Adulto
Colonoscopia
Neoplasias Colorretais/diagnóstico por imagem
Neoplasias Colorretais/patologia
Neoplasias Colorretais/cirurgia
Diagnóstico Diferencial
Feminino
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7274



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