EWSR1 mutation

The combination of vandetanib and everolimus showed early activity and tolerable toxicity profile in pediatric patients with advanced cancers.

TL-LGNPPA is a rare indolent tumor of the nasopharynx and exhibits a unique morphology and immunophenotype. Endoscopic resection is an effective treatment for TL-LGNPPA with excellent overall prognosis.

We report the first case of primary intracranial Ewing sarcoma invading the superior sagittal sinus and causing middle segment occlusion, accompanied by EWSR1-FLI1 gene fusion and EWSR1 gene mutation. Subsequently, we conducted a literature review to characterize the clinical information of primary intracranial Ewing sarcomas.

This study suggested that the PI3K-Akt signaling pathway may be a key pathway for pancreatic cancer, our study uncovered the potential therapeutic potential of GSK2126458, a specific mTOR inhibitor, for pancreatic cancer.

High expression of UHRF1 correlates with a dismal prognosis in EwS; EWS/FLI1 binds to SRA domain of UHRF1 to maintain each other's stability and drive the aberrant DNA methylation pattern of EwS.

Combination therapy with dabrafenib mesylate and trametinib dimethyl sulfoxide proved to be temporarily effective against this tumor. Furthermore, there is no report of GNET exhibiting both a BRAF mutation and an EWSR1-ATF1 fusion gene. Further accumulation of similar cases is necessary to elucidate the pathological significance of this GNET having a BRAF mutation.

Together, these findings suggest that phosphorylation of EWSR1/FLI1 at Thr 79 promotes the co-localization of EWSR1/FLI1 and Aurora B on the chromosomes during prophase and metaphase, and in addition, impairs the localization of Aurora B during anaphase, leading to induction of aneuploidy. This is the first demonstration of the mechanism for EWSR1/FLI1-dependent induction of aneuploidy associated with mitotic dysfunction, and the identification of the phosphorylation of the Thr 79 of EWSR1/FLI1 as a critical residue required for this induction.

The diagnosis is based on clinicopathological, immunophenotypic, and molecular pathology features. The primary treatment for MGNET is complete surgical excision and chemotherapy; the prognosis is poor.

These 3 tumors define a new group of RMS associated with a fusion of the SRF gene. FOXO1 rearrangements, usually used to confirm the diagnosis of alveolar RMS and identify poor-outcome RMSs, were identified in a nonalveolar RMS for the first time.