P04.09 Frequent inactivating mutations of PBRM1 in meningioma with papillary features
Erik A. WilliamsPriscilla K. BrastianosSandro SantagataDaniel P. CahillS. RamkissoonTareq A. Juratli
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Abstract BACKGROUND Papillary meningiomas (PM) are rare WHO grade III tumors that are associated with frequent recurrences and metastatic disease in spite of surgery and radiation. Due to their low incidence and scarcity of tumor tissues available for genomic analyses, the genetic alterations associated with PM remain unclear. MATERIAL AND METHODS We mined data collected as part of our clinical comprehensive genomic profiling (CGP) initiative which has to date analyzed 8 PM (>50% papillary morphology) and 22 meningiomas with focal papillary features (10–50%) amongst over 500 additional meningiomas of other subtypes. The samples were analyzed in a CAP/CLIA-accredited laboratory (Foundation Medicine, Cambridge, MA). GCP was performed on hybridization-captured, adaptor ligation-based libraries to a mean coverage depth of >650x for 236 or 315 genes plus the introns from 19 or 28 genes frequently involved in cancer. RESULTS In our cohort of 8 PMs, we identified three cases with inactivation of PBRM1; two cases with a truncating mutation in PBRM1 and one with homozygous deletion of PBRM1. Of the 22 meningiomas with only focal papillary features, 8 cases were PBRM1-mutant. Thus, 11 of 30 cases (36.7%) with at least focal (>10%) papillary morphology had inactivation of PBRM1.In the entire cohort of 562 meningiomas, we identified five additional cases with inactivating alterations in PBRM1 that did not display overt papillary morphology in the H&E sections available for analysis. Thus, 11 of 16 PBRM1-mutant cases (69%) occurred in meningioma with papillary histologic features as opposed to 19 of 546 wild-type cases (3.5%), supporting a significant association between papillary features and PBRM1 mutation (p<0.0001). The majority of PBRM1-mutant meningiomas occurred in female patients (n=10/16, 62.5%), and median age was 51 years. Most cases were located supratentorially (n=10). CONCLUSION We identified the tumor suppressor gene PBRM1 as a recurrently altered gene in meningiomas with papillary histomorphology. Further investigational studies are needed to assess outcomes of PBRM1-mutant meningioma and to determine whether mutation is an independent negative prognostic biomarker.Malignant meningioma
Presentation (obstetrics)
Single Center
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Expression of matrix metalloproteinase -9 and its significance in meningioma recurrence and regrowth
Objective To investigate the expression of matrix metalloproteinase-9 (MMP-9) and determine the biologic significance of MMP-9 in the meningioma recurrence and regrowth after surgery. Methods The expression level of MMP-9 were examined by immunohistochemistry (Envision method) in 74 patients with meningioma, including 30 with primary meningioma without recurrence (control), and 44 with meningioma recurrence and regrowth after surgery (71 samples, experimental). The relation between recurrence-free survival (RFS) and the expression of MMP-9 in different grades of meningioma with different operation frequency and resection degree was analyzed in these 101 samples. Results The mean expression of MMP-9 in the experimental group was significantly higher as compared with that in the control group (P<0.05); increased expression of MMP-9 was found following the increase of operation frequency in the experimental group; no obviously decreased expression of MMP-9 was found following the increase of recession degree in the experimental group, but the expression of MMP-9 in patients with grade II meningioma was significantly increased than that in patients with grade I meningioma and the RFS was statistically decreased (P<0.05). Conclusion MMP-9 may be involved in recurrence and regrowth of grade II meningioma, and increased expression of MMP-9 can be considered as an indicator for a high risk of recurrence and regrowth of meningioma.
Key words:
Meningioma; Recurrence; Regrowth; MMP-9
Matrix metalloproteinase 9
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Objective: This study was done to determine the clinical and histological pattern of intracranial meningioma, to determine the sociodemographic characteristic and clinical presentation and correlate this to the clinical patterns of intracranial meningioma, to find out the anatomical location of meningioma and to document the WHO histological grade of meningioma.
Materials and Methods: We have studied 51 cases of meningioma. Meningioma was diagnosed primarily by contrast enhanced CT Scan and Magnetic Resonence Imaging (MRI) of brain. This was confirmed by histopathological examination. Histopatholgical results were examined according to age and sex distribution, anatomical location of tumor, histological type and WHO grading of tumor. Correlation of clinical features and radiological findings were made with histpathological results.
Results and conclusion: Most of the sufferer was female 34 (67%). The commonest age group was 40-59 years. The commonest site of tumor was convexity of brain 26 (60%). The commonest histopathological type was meningotheliomatous meningioma 20 (39%). The 92% of the meningioma was WHO GRADE I tumor.
Grading (engineering)
Histopathological examination
Presentation (obstetrics)
Brain tumor
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背景不正常的 meningioma 占大约 4.7% ～ 7.2% 各种 meningiomas，它与相对高的复发和死亡是侵略的。这研究的目的经历了外科的治疗并且病理地在北京 Tiantan 的神经外科部门为不正常的 meningioma 证实到2008年12月的从2003年1月的医院也在肿瘤的这个 study.The 特征被注册的 74 个病人是调查临床的表明和不正常的 meningioma.Methods A 的治疗学的策略全部的当治疗学的政体和后续数据被考察。在外科以后， 56patients 经历了放射疗法。病人们被跟随在上面为大约 3.5 年(范围， 0.5-6.0 年) ，并且 58 个病人完成了完成了后续的 58 个病人的 follow-up.Results，好恢复在 30 被发现，在 15 的神经病学的机能障碍，和在 13 的死亡。58 个病人， 21 有周期性的 meningioma， 18 经历了不正常的 meningioma 是的第二 surgery.Conclusions 对困难设法，与高复发率和差的幸存。肿瘤切除术和组织学的等级的程度是结果的关键决定因素。放射治疗能在全部或部分的切除术以后被用作附属治疗。
Malignant meningioma
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The association between meningioma and a primary malignant neoplasm at another site was studied. The data from the population-based Norwegian Cancer Registry were analysed according to whether the meningioma occurred before or after the malignant neoplasm. Male patients with meningioma showed a raised risk for developing a subsequent renal cancer. A significant association was found between meningioma and subsequent breast cancer in females 50-64 years old at time of meningioma diagnosis and between breast cancer and subsequent occurrence of meningioma. Breast cancer patients with symptoms of an intracranial neoplasm may therefore have a potentially curable meningioma and female meningioma patients over 50 years should be considered for breast cancer screening programmes.
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Neoplasm
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Hemangiopericytoma
Solitary Fibrous Tumor
Phosphocholine
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Although an association between meningioma and breast cancer (BC) has been postulated, clear mechanisms remain obscure. By conducting population-based analyses in women with both BC and meningioma, hypothesis-generating causal links were pursued.Using the US SEER 18 registry (2004 to 2009), clinicopathologic and demographic characteristics from cohorts of women with only BC (n=279,821) or meningioma (n=19,570) diagnoses were compared with 412 women with both diagnoses (BC-meningioma).BC diagnosis preceded meningioma by >2 months in 48% of women; 20% had synchronous (within 2 mo) disease. Median meningioma size was 1.9 and 2.4 cm in the BC-meningioma and meningioma cohorts, respectively (P=0.0009). Among BC-meningioma patients, meningioma size was similar whether diagnosed >2 months prior, synchronously, or >2 months after BC. Meningioma was pathologically confirmed in 38% of BC-meningioma and 51% of meningioma patients. Distribution of BC histologies was comparable in patients with and without meningioma, with ductal type predominating (80% in BC-meningioma, 83% in BC). Although hormone receptor status of invasive BC was not significantly different between BC-meningioma and BC groups, the BC-meningioma cohort had fewer women with ER+/PR+ in situ disease (P=0.006). BC stage among women with meningioma was more advanced versus women with BC only.Women with BC and meningioma have smaller-sized meningiomas and more advanced BCs compared with women having only 1 diagnosis. As there was no temporal relationship between size and latency between tumor diagnoses, the disparity in meningioma size between BC-meningioma and meningioma cohorts may have BC-associated biological components that warrant further study.
Malignant meningioma
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Meningioma has many subtypes with clear cell meningioma being more aggressive than other variants of meningioma and one of the rarest. We report a case of spinal clear cell meningioma that occurred in a 25-year-old lady who presented with the inability to be in the supine position. A magnetic resonance image showed an intradural mass extending from L1 to L4. Near complete excision was done. The patient had motor weakness postoperatively which improved gradually. A histopathological study showed a clear cell meningioma. In a differential diagnosis of any space-occupying lesion of the spine, clear cell meningioma should be considered though it is a rare form of meningioma due to its potential to recure. An accurate follow-up is warranted.
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