scholarly journals Case Report: Identification of a Novel GNAS Mutation and 1p/22q Co-Deletion in a Patient With Multiple Recurrent Meningiomas Sensitive to Sunitinib

2021 ◽  
Vol 11 ◽  
Author(s):  
Weiping Hong ◽  
Changguo Shan ◽  
Minting Ye ◽  
Yanying Yang ◽  
Hui Wang ◽  
...  

BackgroundAlthough surgical resection can cure the majority of meningiomas, there are still approximately 20% of patients suffering from an aggressive course with recurrence or progression. In this study, we reported a novel GNAS mutation and 1p/22q co-deletion responding to sunitinib in a patient with multiple recurrent meningiomas.Case PresentationA 53-year-old woman with meningioma was hospitalized due to postoperative tumor progression for 3 weeks. WHO grade I meningioma was pathologically diagnosed after the first three surgeries, but the second recurrence occurred approximately 3 years following the third surgery. Next-generation sequencing was performed on the first two recurrent samples. GNAS mutations and 1p/22q co-deletion were both identified, and amplification at 17q and chromosome 19 was also found in the second recurrent sample, based on which WHO grade II/III meningioma was diagnosed. The lesion in the left cerebellopontine angle area enlarged after use of radiotherapy combined with temozolomide chemotherapy for 2 months. When sunitinib was added, the residual lesions began to lessen and continuously reduced.ConclusionThis typical case suggested that timely molecular diagnosis for refractory meningiomas contributed to guiding the molecular classification and clinicians to make more reasonable individualized therapeutic regimens, consequently benefiting the patients. This case report also highlighted the potential role of sunitinib in the treatment of refractory meningiomas.

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 342 ◽  
Author(s):  
Enrico Franceschi ◽  
Dario De Biase ◽  
Vincenzo Di Nunno ◽  
Annalisa Pession ◽  
Alicia Tosoni ◽  
...  

Background: Non-canonical mutations of the isocitrate dehydrogenase (IDH) genes have been described in about 20–25% and 5–12% of patients with WHO grade II and III gliomas, respectively. To date, the prognostic value of these rare mutations is still a topic of debate. Methods: We selected patients with WHO grade II and III gliomas and IDH1 mutations with available tissue samples for next-generation sequencing. The clinical outcomes and baseline behaviors of patients with canonical IDH1 R132H and non-canonical IDH1 mutations were compared. Results: We evaluated 433 patients harboring IDH1 mutations. Three hundred and ninety patients (90.1%) had a canonical IDH1 R132H mutation while 43 patients (9.9%) had a non-canonical IDH1 mutation. Compared to those with the IDH1 canonical mutation, patients with non-canonical mutations were younger (p < 0.001) and less frequently presented the 1p19q codeletion (p = 0.017). Multivariate analysis confirmed that the extension of surgery (p = 0.003), the presence of the 1p19q codeletion (p = 0.001), and the presence of a non-canonical mutation (p = 0.041) were variables correlated with improved overall survival. Conclusion: the presence of non-canonical IDH1 mutations could be associated with improved survival among patients with IDH1 mutated grade II–III glioma.


2019 ◽  
Vol 7 (2) ◽  
pp. 141
Author(s):  
Moowan Park ◽  
Eun Kyeong Hong ◽  
Sang Hyen Lee ◽  
Ho-Shin Gwak

2016 ◽  
Vol 4 (10) ◽  
pp. 928-934 ◽  
Author(s):  
Melissa Y. Y. Moey ◽  
Omer A. Hassan ◽  
Christos N. Papageorgiou ◽  
Stephanie L. Schnepp ◽  
John T. Hoff

2009 ◽  
Vol 27 (2) ◽  
pp. E8 ◽  
Author(s):  
Luc Taillandier ◽  
Hugues Duffau

OBJECTThere are few data in the literature concerning a multimodal approach to insular WHO Grade II gliomas (GIIGs) and the control of epilepsy after treatment. In this paper, the authors describe a monocentric series of 46 cases in which patients underwent various sequential treatments for insular GIIGs. On the basis of global results with regard to epilepsy, the respective interests in the various treatments are discussed.METHODSAvailable data on 46 patients harboring insular GIIGs were extracted from a local database of 288 GIIGs. The various therapeutic sequences were analyzed in parallel with the course of seizure frequency.RESULTSDespite the usual difficulties with seizure quantification in retrospective studies, the authors showed that 1) the negative course of seizure frequency was mostly connected to tumor progression, 2) surgery almost always had a favorable effect on epilepsy, and 3) chemotherapy had a mostly favorable effect with acceptable tolerance. The authors were unable to draw conclusions about the role of radiotherapy given the too few cases.CONCLUSIONSThis extensive experience with insular GIIGs tends to confirm interest in their surgical removal and supports interest in chemotherapy from an epileptological point of view.


2015 ◽  
Vol 129 (4) ◽  
pp. 585-596 ◽  
Author(s):  
Adriana Olar ◽  
Khalida M. Wani ◽  
Kristin D. Alfaro-Munoz ◽  
Lindsey E. Heathcock ◽  
Hinke F. van Thuijl ◽  
...  

Author(s):  
Masaya Akashi ◽  
Satoshi Wanifuchi ◽  
Junya Kusumoto ◽  
Megumi Kishimoto ◽  
Yasumasa Kakei ◽  
...  

2015 ◽  
Vol 129 (5) ◽  
pp. 679-693 ◽  
Author(s):  
Michael Weller ◽  
Ruthild G. Weber ◽  
Edith Willscher ◽  
Vera Riehmer ◽  
Bettina Hentschel ◽  
...  

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