Background: Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes.
Objective: This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin.
Data Sources: Articles were searched through PubMed and MEDLINE.
Study Selection: The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search.
Results: Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course.
Limitations: There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin.
Conclusions: Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration.
Una Forma Diferente De Pensar Sobre Los Sndromes Del Cncer Colorrectal Hereditario: ANTECEDENTES:El cáncer colorrectal hereditario es un campo cada vez más complejo donde los síndromes más comunes se ven aumentados por presentaciones genéticas más raras que contribuyen a la poliposis familiar y al cáncer colorrectal. Hacer frente a esta complejidad resulta difícil debido a la superposición fenotípica y genotípica entre los síndromes.OBJETIVO:En este artículo, describimos una nueva forma de pensar sobre los síndromes de cáncer colorrectal hereditario en función del origen de su tejido embrionario.FUENTES DE DATOS:Se realizaron búsquedas de artículos en Pubmed y Medline.SELECCIÓN DE ESTUDIOS:Se utilizaron los términos "cáncer colorrectal hereditario", "síndromes de cáncer colorrectal hereditario", "poliposis hereditaria" para dirigir la búsqueda.RESULTADOS:Principalmente los síndromes derivados del endodermo fueron diferentes a los síndromes derivados del mesodermo en su genética, biología molecular, histología y curso clínico.LIMITACIONES:Existe una superposición fenotípica y genotípica considerable entre los síndromes, incluso cuando se considera el tejido de origen embrionario.CONCLUSIÓN:Pensar en los síndromes hereditarios del cáncer colorrectal desde la perspectiva del tejido embrionario de origen proporciona una nueva mirada al fenotipo y al genotipo que abre nuevas áreas de exploración. (Traducción-Dr Osvaldo Gauto ).
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http://dx.doi.org/10.1097/DCR.0000000000002772 | DOI Listing |
BMC Surg
January 2025
Department of Urology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Purpose: To evaluate the efficacy of an enhanced recovery after surgery (ERAS) strategy for upper tract urothelial carcinoma (UTUC) patients undergoing laparoscopic radical nephroureterectomy (LRNU).
Methods: 90 patients who received LRNU at Zhongnan Hospital of Wuhan University between January 2018 and July 2022 were retrospectively analyzed, including 43 in the ERAS group and 47 in the pre-ERAS group. The clinical features, postoperative complications, length of hospital stay (LOS), and hospital expenditures of the two groups were compared via t-test, Mann-Whitney test, and Chi-square test.
BMC Public Health
January 2025
Heluna Health, City of Industry, City of Industry, CA, USA.
Background: Prescribed burning is an important fuel management tool to prevent severe wildfires. There is a pressing need to increase its application to reduce dry fuels in the western United States, a region that has experienced many damaging wildfires. Public support for this practice is tempered by concern around smoke impacts and escape risks.
View Article and Find Full Text PDFCommun Med (Lond)
January 2025
Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Gene signatures derived from transcriptomic-causal networks offer potential for tailoring clinical care in cancer treatment by identifying predictive and prognostic biomarkers. This study aimed to uncover such signatures in metastatic colorectal cancer (CRC) patients to aid treatment decisions.
Methods: We constructed transcriptomic-causal networks and integrated gene interconnectivity into overall survival (OS) analysis to control for confounding genes.
Nat Med
January 2025
Artificial Intelligence in Medicine (AIM) Program, Mass General Brigham, Harvard Medical School, Boston, MA, USA.
Large language models (LLMs) are rapidly being adopted in healthcare, necessitating standardized reporting guidelines. We present transparent reporting of a multivariable model for individual prognosis or diagnosis (TRIPOD)-LLM, an extension of the TRIPOD + artificial intelligence statement, addressing the unique challenges of LLMs in biomedical applications. TRIPOD-LLM provides a comprehensive checklist of 19 main items and 50 subitems, covering key aspects from title to discussion.
View Article and Find Full Text PDFNat Commun
January 2025
Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, USA.
The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.
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