RESUMEN
Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors. In this study, we describe an infant in pineoblastoma with facial anomalies, learning disability and mild autism at 1 years diagnosed as Sotos syndrome owing to carrying a novel mutation de novo germline NSD1 likely pathogenic variant. This patient expands both the mutation and phenotype spectrum of the Sotos Syndrome and provides new clinical insights into the potential mechanism of underlying pinealoblastoma pathology.
Asunto(s)
Neoplasias Encefálicas , Glándula Pineal , Pinealoma , Síndrome de Sotos , Lactante , Humanos , Síndrome de Sotos/complicaciones , Síndrome de Sotos/diagnóstico , Síndrome de Sotos/genética , N-Metiltransferasa de Histona-Lisina/genética , Histona Metiltransferasas/genética , Mutación de Línea Germinal , Pinealoma/complicaciones , Pinealoma/genética , Mutación , Glándula Pineal/patologíaRESUMEN
Central nervous system germ cell tumors (CNS GCTs) are a heterogeneous group of primary CNS tumors. GCTs are more common and mostly observed in pediatric and young adult patients. CNS GCTs are divided into germinomas and non-germinomatous germ cell tumors (NGGCTs), with different therapeutic strategies depending on diagnosis. Herein, we report a patient with pediatric central nervous system germinoma harboring a somatic KIT p.Y823D and a heterozygous germline SDHA p. T396Nfs*14 mutation detected by next generation sequencing. After surgery, the patient received chemotherapy (temozolomide + nedaplatin + etoposide). This is the first report of a Chinese pediatric patient with CNS GCT harboring concurrent germline SDHA and somatic KIT mutation, which enriches molecular profiles of CNS GCTs and provides more molecular evidence of clinical diagnosis and potential targeted therapy in CNS GCTs.
RESUMEN
Nicorandil, the first clinically applied ATP-sensitive K+ channel (K+ATP) opener with nitrate property, has demonstrated cardioprotective effects in patients with multiples of heart diseases. However, it is unknown whether nicorandil has effects on left ventricular (LV) remodeling in rats with ischemic heart failure and the potential mechanisms remain unclear. In this study, we investigated the effects of nicorandil on cardiac function, LV remodeling, and Bax expression in myocardium of LV in rats with ischemic heart failure. We found that nicorandil could improve not only the general condition, but also the cardiac function in rats with ischemic heart failure. The data also demonstrated that nicorandil reduced the hypertrophy and fibrosis of LV in rats with ischemic heart failure. Furthermore, nicorandil suppressed the protein level of Bax expression in LV myocardium. Taken together, these results suggest that nicorandil exerts its cardioprotective effect and improves LV remodeling in rats with ischemic heart failure. The mechanism might be relative to the inhibitory effect of nicorandil on the protein level of Bax expression in LV myocardium.
