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Behzadi Faraz,Heiferman Daniel M,Wozniak Amy,Africk Benjamin,Ballard Matthew,Chazaro Joshua,Zsigray Brandon,Reynolds Matthew,Anderson Douglas E,Joseph C Serrone 대한뇌혈관외과학회 2022 Journal of Cerebrovascular and Endovascular Neuros Vol.24 No.2
Objective: Brain arteriovenous malformations (AVM) are commonly treated with endovascular embolization. Due to the rapid evolution of endovascular technology and lack of consistent practice guidelines regarding AVM embolization, further study of AVM embolization outcomes is warranted.Methods: We conducted a retrospective review of AVMs embolized at a single center from 2002-2019. Patient demographics, AVM characteristics, intention of embolization, and angiographic and clinical outcome after embolization were recorded. We compared the embolization results of those treated with n-butyl cyanoacrylate (n-BCA) and Onyx.Results: Over an 18-year period at our institution, 30 (33%) of 92 AVMs were treated with embolization. n-BCA was used in 12 cases and Onyx in 18 cases. Eighty-seven pedicles were embolized over 47 embolization sessions. Fifty percent of AVMs treated with n-BCA underwent more than one embolization session compared to 22% when Onyx was used. The median total percent volume reduction in the n-BCA AVMs was 52% compared to 51% in Onyx AVMs. There were 2 periprocedural complications in the n-BCA cohort and none in the Onyx cohort.Conclusions: In this small retrospective series, Onyx and n-BCA achieved similar occlusion results, although n-BCA required more sessions and pedicles embolized to do so.
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Pathogenic Germline Variants in 10,389 Adult Cancers
Huang, Kuan-lin,Mashl, R. Jay,Wu, Yige,Ritter, Deborah I.,Wang, Jiayin,Oh, Clara,Paczkowska, Marta,Reynolds, Sheila,Wyczalkowski, Matthew A.,Oak, Ninad,Scott, Adam D.,Krassowski, Michal,Cherniack, And Elsevier 2018 Cell Vol.173 No.2
<P><B>Summary</B></P> <P>We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of <I>SDHA</I> in melanoma and <I>PALB2</I> in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including <I>ATM</I>, <I>BRCA1</I>, and <I>NF1</I>, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in <I>MET</I>, <I>RET</I>, and <I>PTPN11</I> associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer.</P> <P><B>Highlights</B></P> <P> <UL> <LI> 871 predisposition variants/CNVs discovered in 8% of 10,389 cases of 33 cancers </LI> <LI> Pan-cancer approach identified shared variants and genes across cancers </LI> <LI> 33 variants affecting activating domains of oncogenes showed high expression </LI> <LI> 47 VUSs prioritized using cancer enrichment, LOH, expression and other evidence </LI> </UL> </P> <P><B>Graphical Abstract</B></P> <P>[DISPLAY OMISSION]</P>
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