Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.

Objects To study the long-term outcome of surgically treated low-grade cerebellar astrocytomas in children. Materials and methods We followed 31 consecutive patients under 16 years of age who were diagnosed between 1980 and 2005 in a single institution. In 21 of 31 survivors (median follow-up time 7.9 years; range 5.6-27.4 years) who agreed to participate, tumor control, neurological and cognitive complications, and their impact on behavioral and emotional adjustment and health-related quality of life (HRQoL) were comprehensively assessed qualitatively and quantitatively. Results Neurological sequelae were found in 43%. However, age-appropriate ability to perform daily life activities was normal in all patients. Remarkably, cognitive deficits leading to significant school problems occurred in 19% and behavioral and emotional adjustment disturbances in 27%. In comparison with healthy controls, the survivors rated their HRQoL similarly or even higher. Conclusion Childhood low-grade cerebellar astrocytomas have an excellent cure rate by tumor surgery alone. When compared with other pediatric brain tumors, the risk of neurological, cognitive, emotional, and behavioral complications is relatively small. HRQoL is similar to that of healthy controls.

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