Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity.

This was a prospective cohort study of eighteen patients with large and debilitating vascular malformations with one or more major systemic complications. In all patients, we discovered activating alterations in either TEK or PIK3CA. Based on these findings, targeted treatment using the PI3K inhibitor alpelisib was started with regular check-ups, therapy duration varied from 6 to 31 months.

Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside.

Unlabelled: In order to identify reasons for treatment failures when using targeted therapies, we have analyzed the comprehensive molecular profiles of three relapsed, poor-prognosis Burkitt lymphoma cases. All three cases had resembling clinical presentation and histology and all three patients relapsed, but their outcomes differed significantly. The samples of their tumor tissue were analyzed using whole-exome sequencing, gene expression profiling, phosphoproteomic assays, and single-cell phosphoflow cytometry.

Personalized Treatment of H3K27M-Mutant Pediatric Diffuse Gliomas Provides Improved Therapeutic Opportunities.

Diffuse gliomas with K27M histone mutations (H3K27M glioma) are generally characterized by a fatal prognosis, particularly affecting the pediatric population. Based on the molecular heterogeneity observed in this tumor type, personalized treatment is considered to substantially improve therapeutic options. Therefore, clinical evidence for therapy, guided by comprehensive molecular profiling, is urgently required.

Laryngeal mask airway Unique™ position in paediatric patients undergoing magnetic resonance imaging (MRI): prospective observational study.

Background: Laryngeal mask UNIQUE® (LMAU) is supraglottic airway device with good clinical performance and low failure rate. Little is known about the ideal position of the LMAU on the magnetic resonance imaging (MRI) and whether radiological malposition can be associated with clinical performance (audible leak) in children. The primary aim of the study was to evaluate incidence of the radiologic malposition of the LMAU according to size.

Future paradigms for precision oncology.

Research has exposed cancer to be a heterogeneous disease with a high degree of inter-tumoral and intra-tumoral variability. Individual tumors have unique profiles, and these molecular signatures make the use of traditional histology-based treatments problematic. The conventional diagnostic categories, while necessary for care, thwart the use of molecular information for treatment as molecular characteristics cross tissue types.

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.

Successful treatment of life-threatening Candida peritonitis in a child with abdominal non-Hodgkin lymphoma using Efungumab and amphotericin B colloid dispersion.

Invasive fungal infections are serious complications of cancer therapy. We present a case report of a 12-year-old boy diagnosed with abdominal non-Hodgkin lymphoma and fecal and Candida peritonitis during induction chemotherapy. The invasive mycosis was managed using a combined approach of systemic antifungal agents including efungumab and surgical interventions.

Second complete remission of relapsed medulloblastoma induced by metronomic chemotherapy.

Prognosis for children with relapsed medulloblastoma remains poor. Metronomic chemotherapy may offer some benefit to patients treated initially with intensive regimens. However, dosing and duration of such palliative treatment have not been systematically studied.

Treatment of deep venous thrombosis with low molecular weight heparin in pediatric cancer patients: safety and efficacy.

Few complete reports exist regarding treatment of venous thromboembolism in children undergoing chemotherapy. We designed this study to unify the treatment of venous thromboembolism in oncology pediatric patients at our department. At the same time, we wanted to evaluate the safety and efficacy of our newly designed treatment schedule.

Successful treatment of aspergillus brain abscess in a child with acute lymphoblastic leukemia and liver failure.

Invasive fungal infection continues to pose a significant threat to immunocompromised patients, with cerebral aspergillosis being among the most feared ones. The authors describe an adolescent girl with acute lymphoblastic leukemia (ALL) with subsequent acute liver failure, who developed an aspergillus brain abscess. The patient was treated with combined antifungal therapy using amphotericin B local instillation, prolonged systemic amphotericin B colloidal dispersion along with vinca alkaloids-containing chemotherapy, followed by neurosurgical débridement and oral voriconazole in the setting of ongoing antileukemic maintenance chemotherapy.