Primary Intracranial Angiomatoid Fibrous Histiocytoma: Two Case Reports and Literature Review.

BACKGROUND: Angiomatoid fibrous histiocytoma (AFH) is a rare, fibrohistiocytic, soft-tissue neoplasm. Intracranial AFH is extremely rare. Here we present 2 pediatric cases of intracranial AFH and perform a literature review on this disease entity. CASE DESCRIPTION: We present 2 cases. The first case is a 10-year-old boy who presented with seizures and hemiparesis. The second case is an 11-year-old girl who presented with 2-year history of seizures. Radiologic images demonstrated right frontal lesions in both patients. Complete surgical resection was achieved. Histopathological findings established the diagnosis of intracranial AFH confirmed with fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction testing that demonstrated EWSR1 gene rearrangement in both cases. CONCLUSIONS: Twenty-two cases of intracranial AFH have been previously documented, with the majority of lesions located in the frontal lobe. Most cases occurred in adolescents and young adults, with a slight female predilection. Headaches and seizures constituted the most common clinical presentation. Complete surgical resection remains the standard of care in the management of this pathology.

New insights into the genomic landscape of meningiomas identified FGFR3 in a subset of patients with favorable prognoses.

Background: With a prevalence of 170 000 adults in the US alone, meningiomas are the most common primary intracranial tumors. The management of skull base meningiomas is challenging due to their complexity and proximity to crucial nearby structures. The identification of oncogenic mutations has provided further insights into the tumorigenesis of meningioma and the possibility of targeted therapy. This study aimed to further investigate the association of mutational profiles with anatomical distribution, histological subtype, WHO grade, and recurrence in patients with meningioma. Methods: Tissue samples were collected from 71 patients diagnosed with meningioma from 2008 to 2016. A total of 51 cases were skull based. Samples were subjected to targeted sequencing using a next generation customized cancer gene panel (n = 66 genes analyzed). Results: We detected genomic alterations (GAs) in 68 tumors, averaging 1.56 ± 1.07 genomic alterations (GAs) per sample. NF2 was the most frequently altered gene (36/71 cases). Interestingly, we identified a number of mutations in non-NF2 genes, including a hotspot TERTp c.-124: G > A mutation that may be related to poor prognosis and FGFR3 mutations that may represent biomarkers of a favorable prognosis as reported in other cancers. Conclusions: We demonstrate that comprehensive genomic profiling in our population can reveal a potential new prognostic biomarkers of skull base meningioma. These mutations can enhance diagnostic accuracy and clinical decision-making. Among our findings were the identification of a TERTp mutation and the first report of FGFR3 mutations that may represent biomarkers for the identification of skull base meningioma patients with a favorable prognosis.