and MEK Targeted Therapies in Pediatric Central Nervous System Tumors.

is a component of the MAPK and PI3K/AKT/mTOR pathways that play a crucial role in cellular proliferation, differentiation, migration, and angiogenesis. Pediatric central nervous system tumors very often show mutations of the MAPK pathway, as demonstrated by next-generation sequencing (NGS), which now has an increasing role in cancer diagnostics. The MAPK mutated pathway in pediatric CNS tumors is the target of numerous drugs, approved or under investigation in ongoing clinical trials.

GH Therapy in children and adolescents with Growth Hormone Deficiency during the first phase of COVID-19 lockdown: a survey in an Italian center.

Background: Coronavirus Disease - 19 (COVID-19) had a profound impact on mental health of people and can influence the quality of life of children who need chronic therapies, affecting daily adherence to drug therapy and altering long-term outcomes. In Growth Hormone Deficiency (GHD) regular drug intake guarantees height improvement and, consequently, self-esteem of children. We conducted a survey to evaluate adherence to daily therapy and changes of height standard deviations in children with GHD during a pandemic-associated lockdown.

Enlarged spinal nerve roots in RASopathies: Report of two cases.

RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These disorders are multisystem diseases with considerable clinical overlap, even though distinct hallmarks are recognizable for each specific syndrome. Here we report on the presence of enlarged spinal nerve roots resembling neurofibromas, a typical neuroradiological finding of neurofibromatosis type 1, in two patients with a molecularly confirmed diagnosis of Noonan syndrome and cardio-facio-cutaneous syndrome, respectively.