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000132820 1001_ $$0P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8$$aJohann, Pascal$$b0$$eFirst author
000132820 245__ $$aSellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup.
000132820 260__ $$aPhiladelphia, Pa.$$bLippincott Williams & Wilkins$$c2018
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000132820 520__ $$aAtypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly encountered in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. A small group of ATRT stands out clinically, because these tumors are located in the sellar region of adults. To investigate if sellar region ATRT in adults represents a molecular distinct entity, we characterized molecular alterations in 7 sellar region ATRTs in adults as compared with 150 pediatric ATRTs and 47 pituitary adenomas using SMARCB1 sequencing, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization as well as DNA methylation profiling. The median age of the 6 female and 1 male patients was 56 years. On histopathologic examination, all tumors were malignant rhabdoid tumors showing loss of SMARCB1/INI1 protein expression. Two cases displayed compound heterozygous SMARCB1 point mutations, 3 cases showed heterozygous SMARCB1 deletions with point mutations of the other allele and 1 case a homozygous SMARCB1 deletion; in 1 case, underlying SMARCB1 alterations could not be identified. On unsupervised hierarchical cluster analysis of DNA methylation profiles, sellar region ATRTs did not form a distinct group, but clustered with ATRT-MYC, 1 of 3 recently described molecular subgroups of ATRT. On analysis of DNA methylation array intensity data, only 1 sellar region ATRT showed characteristic features of pediatric ATRT-MYC, that is, major copy number losses affecting the SMARCB1 region. In conclusion, these results suggest that sellar region ATRTs in adults form a clinically distinct entity with a different mutational spectrum, but epigenetic similarities with pediatric ATRTs of the ATRT-MYC subgroup.
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000132820 7001_ $$aBens, Susanne$$b1
000132820 7001_ $$aOyen, Florian$$b2
000132820 7001_ $$aWagener, Rabea$$b3
000132820 7001_ $$aGiannini, Caterina$$b4
000132820 7001_ $$aPerry, Arie$$b5
000132820 7001_ $$aRaisanen, Jack M$$b6
000132820 7001_ $$aReis, Gerald F$$b7
000132820 7001_ $$aNobusawa, Sumihito$$b8
000132820 7001_ $$aArita, Kazunori$$b9
000132820 7001_ $$aFelsberg, Jörg$$b10
000132820 7001_ $$0P:(DE-HGF)0$$aReifenberger, Guido$$b11
000132820 7001_ $$aAgaimy, Abbas$$b12
000132820 7001_ $$aBuslei, Rolf$$b13
000132820 7001_ $$aCapper, David$$b14
000132820 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b15
000132820 7001_ $$aSchneppenheim, Reinhard$$b16
000132820 7001_ $$aSiebert, Reiner$$b17
000132820 7001_ $$aFrühwald, Michael C$$b18
000132820 7001_ $$aPaulus, Werner$$b19
000132820 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b20
000132820 7001_ $$aHasselblatt, Martin$$b21
000132820 773__ $$0PERI:(DE-600)2029143-7$$a10.1097/PAS.0000000000001023$$gVol. 42, no. 4, p. 506 - 511$$n4$$p506 - 511$$tThe @American journal of surgical pathology$$v42$$x0147-5185$$y2018
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