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Video 1Xxx.
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Video 1Case demonstrations of endoscopic vascular plug placement for challenging gastrointestinal fistulae.
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PURPOSE OF REVIEW: Gastric vascular abnormalities are a well known cause of gastrointestinal bleeding. Due to their recurrent bleeding tendency and potential to cause life-threatening blood loss, gastric vascular abnormalities can result in significant morbidity and cost. RECENT FINDINGS: There have been novel advances in medical and endoscopic management of gastric vascular lesions. New data suggest that endoscopic band ligation and ablation may be comparable, or even superior, to argon plasma coagulation (APC) for management of gastric antral vascular ectasia (GAVE). A creative, highly sensitive and specific computer-assisted tool has been developed to facilitate reading video capsule endoscopies for the detection of angiodysplasias, paving the way for artificial intelligence incorporation in vascular lesions diagnostics. Over-the-scope clipping is a relatively new technology that shows promising results in controlling bleeding from Dieulafoy's lesions. SUMMARY: In this article, we will broadly review the management of the most prevalent gastric vascular lesions, focusing on the most recent areas of research.
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Inteligencia Artificial , Ectasia Vascular Antral Gástrica , Coagulación con Plasma de Argón , Ectasia Vascular Antral Gástrica/diagnóstico , Ectasia Vascular Antral Gástrica/cirugía , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/terapia , Humanos , Resultado del TratamientoRESUMEN
Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/family history of cancer or polyps, tumor microsatellite instability [MSI], mismatch repair [MMR] deficiency) is unknown. Patients and Methods We recruited 1,058 participants who received CRC care in a clinic-based setting without preselection for age at diagnosis, personal/family history, or MSI/MMR results. All participants underwent germline testing for mutations in 25 genes associated with inherited cancer risk. Each gene was categorized as high penetrance or moderate penetrance on the basis of published estimates of the lifetime cancer risks conferred by pathogenic germline mutations in that gene. Results One hundred five (9.9%; 95% CI, 8.2% to 11.9%) of 1,058 participants carried one or more pathogenic mutations, including 33 (3.1%) with Lynch syndrome (LS). Twenty-eight (96.6%) of 29 available LS CRCs demonstrated abnormal MSI/MMR results. Seventy-four (7.0%) of 1,058 participants carried non-LS gene mutations, including 23 (2.2%) with mutations in high-penetrance genes (five APC, three biallelic MUTYH, 11 BRCA1/2, two PALB2, one CDKN2A, and one TP53), 15 of whom lacked clinical histories suggestive of their underlying mutation. Thirty-eight (3.6%) participants had moderate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two CHEK2). Neither proband age at CRC diagnosis, family history of CRC, nor personal history of other cancers significantly predicted the presence of pathogenic mutations in non-LS genes. Conclusion Germline cancer susceptibility gene mutations are carried by 9.9% of patients with CRC. MSI/MMR testing reliably identifies LS probands, although 7.0% of patients with CRC carry non-LS mutations, including 1.0% with BRCA1/2 mutations.
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Neoplasias Colorrectales/química , Neoplasias Colorrectales/genética , Predisposición Genética a la Enfermedad , Proteína de la Poliposis Adenomatosa del Colon/genética , Adulto , Anciano , Anciano de 80 o más Años , Quinasa de Punto de Control 2/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , ADN Glicosilasas/genética , Análisis Mutacional de ADN , Proteínas de Unión al ADN/análisis , Proteínas de Unión al ADN/genética , Molécula de Adhesión Celular Epitelial/análisis , Molécula de Adhesión Celular Epitelial/genética , Proteína del Grupo de Complementación N de la Anemia de Fanconi , Femenino , Genes BRCA1 , Genes BRCA2 , Genes p16 , Mutación de Línea Germinal , Humanos , Masculino , Persona de Mediana Edad , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/análisis , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Homólogo 1 de la Proteína MutL/análisis , Homólogo 1 de la Proteína MutL/genética , Proteína 2 Homóloga a MutS/análisis , Proteína 2 Homóloga a MutS/genética , Proteínas Nucleares/genética , Penetrancia , Proteína p53 Supresora de Tumor/genética , Proteínas Supresoras de Tumor/genética , Adulto JovenRESUMEN
PURPOSE: Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care. METHODS: One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences. RESULTS: At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach. CONCLUSION: The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.Genet Med advance online publication 26 January 2017.
