Unusual clinical course Background:The pathogenesis of sporadic multiple meningiomas in the patients without history of neurofibromatosis type II remains unclear. We report whole exome sequencing (WES) of 2 metachronous multiple meningiomas of the same patient.
Case Report:A 39-year-old female had a 5-month history of headache and her magnetic resonance imaging (MRI) revealed a significantly enhanced intracranial space-occupying pathology with dura tail sign and skull invasion. She had no history of neurofibromatosis type II or other tumors. Tumor resection achieved Simpson grade I and the pathological studies revealed an atypical meningioma. After surgery, she accepted focal external-beam radiation therapy. One year later, MRI showed a significantly enhanced intracranial space-occupying pathology near the primary site of the previous tumor. She had only a mild headache. Simpson grade I resection of the tumor was achieved. The pathological diagnosis was still an atypical meningioma. WES on both tumors identified 220 common somatic gene mutations and 43 different somatic gene mutations. Three deleterious mutated genes including QRICH2, KIF2C, and MUC16 were identified only in the first tumor, and 9 deleterious mutated genes including FCGBP, RPS6KA5, GOLGA6L2, IGHV3-66, RPTN, AGRN, USP6, CLTCL1, and PABPC3 were identified only in the second tumor. As shown by the identical result of 3 prediction tools, RPS6KA5 and AGRN were most likely to be related to the progress of multiple atypical meningiomas.
Conclusions:The metachronous meningiomas with same World Health Organization (WHO) grades in the same patient could have distinct genetic aberration patterns. The roles of RPS6KA5 and AGRN in the rapid progress of multiple atypical meningiomas need further studies.
Background: Management of the disproportionately large communicating fourth ventricle is still problematic. Case presentation: Two cases of disproportionately large communicating fourth ventricle were treated successfully. One was a case of a 51-year-old Han Chinese woman with a complaint of headache and dizziness of 1 year's duration. Magnetic resonance imaging (MRI) demonstrated hydrocephalus with a disproportionately large fourth ventricle. She underwent a ventriculo-peritoneal shunt of the right lateral ventricle. Her symptoms were relieved totally. Five years later, magnetic resonance imaging showed she had a normal ventricular system. The other case was a 24-year-old Han Chinese man with a 2-month history of headache and dizziness accompanied by progressive loss of bilateral vision. Magnetic resonance imaging revealed hydrocephalus with a disproportionately large fourth ventricle, crowded posterior cranial fossa, and syringomyelia extending from C1 to C5. He underwent suboccipital and C1 decompression and duraplasty. Shortly after the surgery, his symptoms were relieved completely, the syringomyelia completely disappeared, and the fourth ventricle became significantly smaller. Conclusions: The management of the disproportionately large communicating fourth ventricle should be individualized. If it coexists with crowded posterior cranial fossa or syringomyelia, posterior fossa decompression could be an option for initial management. If there is no sign of crowded posterior cranial fossa or syringomyelia, shunt of the lateral ventricles might be the first choice.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.