28 May 2020 : Case report
Whole Exome Sequencing of Multiple Atypical Meningiomas in a Patient without History of Neurofibromatosis Type II: A Case Report
Unusual clinical course
Jian Lyu1ADEG*, Yu Quan1B, Ju-bo Wang1B, Shou-ping Gong1BDOI: 10.12659/AJCR.923928
Am J Case Rep 2020; 21:e923928
Abstract
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.
Keywords: Exome, Meningioma, Magnetic Resonance Imaging, Meningeal Neoplasms, Mutation, Neurofibromatosis 2, Whole Exome Sequencing
In Press
14 Mar 2024 : Case report
Management of Nontraumatic Spontaneous Renal Hemorrhage (Wünderlich Syndrome) through Robotic-Assisted Lapa...Am J Case Rep In Press; DOI: 10.12659/AJCR.942826
14 Mar 2024 : Case report
Simultaneous Occurrence of Collagen Type III Glomerulopathy and Immunoglobulin A Nephropathy: A Rare Case R...Am J Case Rep In Press; DOI: 10.12659/AJCR.942770
16 Mar 2024 : Case report
Castleman Disease Presenting in the Neck: A Report of 3 Cases and a Literature ReviewAm J Case Rep In Press; DOI: 10.12659/AJCR.943214
16 Mar 2024 : Case report
Early Diagnosis and Successful Empirical Treatment of L1-L2 Spondylodiscitis in a 21-Month-Old Girl: A Case...Am J Case Rep In Press; DOI: 10.12659/AJCR.943010
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250