Browsing by Subject "Genome"

Now showing 1 - 2 of 2
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    GENÉTICA Y EDUCACIÓN: Conocimiento científico para una mejor explicación de la conducta
    (Universidad de Murcia, 2000) Sánchez Monserrate, María del Carmen; Sarlet Gerken, Anne-Marie
    En el aprendizaje, la búsqueda de factores genéticos es más determinante y mecanicista que la búsqueda de factores ambientales (familiares, sociales, escolares), sin embargo los seres humanos no son sistemas genéticamente determinados, e incluso en este supuesto, la conducta no seria predecible. Por tanto una visión más holística del ser humano desde las Ciencias Sociales y la Educación y una aproximación a los objetos de estudio menos mecanicista.
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    Genomic features of bladder neuroendocrine carcinoma with composite histology
    (Universidad de Murcia, Departamento de Histología e Histopatología, 2025) Ohmoto Akihiro; Kitahama Keiichiro; Shigematsu Yasuyuki; Hayashi Naomi; Yonese Junji; Inamura Kentaro; Takahashi Shunji; Biología Celular e Histología
    Neuroendocrine carcinoma (NEC) is a rare and aggressive malignancy derived from multiple body parts, with the urogenital organs being the second-largest extrapulmonary sites. The detailed mechanism of bladder NEC pathogenesis remains unknown. We reviewed data from 23 patients diagnosed with NEC from urogenital organs (bladder and prostate) and conducted targeted sequencing of 523 cancer-related genes, focusing on bladder NEC. While 14 cases featured a pure NEC histology, the remaining nine cases included NEC histology mixed with other tumors, such as urothelial carcinoma (UC) or adenocarcinoma. Median overall survival in the entire cohort was 11.1 months, and survival curves were comparable between pure NEC and NEC of mixed appearance. Major mutations detected in the NEC component were in TP53 (38%), TERT promoter (31%), PIK3CA (25%), histone-modification genes (19%), and RB1 (19%). The BARD1 frameshift variant related to homologous recombination was also detected in one patient. More than half of the patients had a high total mutational burden (TMB; ≥10), including two with a TMB ≥45. Intriguingly, at least one identical gene variant in driver genes was detected between NEC and non-NEC (UC) components in the four bladder specimens analyzed. These results highlight the possibility of shared genetic background between bladder NEC and UC. Additionally, several cases harbored druggable gene alterations as presented by TMB-high. Our presentation of the histopathologi-cal and molecular features of NEC may help clarify the underlying mechanisms and contribute to efficient treatment of the disease