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000166501 1001_ $$00000-0003-4664-3848$$aHoldhof, Dörthe$$b0
000166501 245__ $$aAtypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
000166501 260__ $$aHeidelberg$$bSpringer$$c2021
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000166501 500__ $$a2021 Feb;141(2):291-301
000166501 520__ $$aAtypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause are inactivating bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency of germline mutations, younger age, and an inferior prognosis in comparison to SMARCB1 mutated cases. Based on their DNA methylation profiles and transcriptomics, SMARCB1 mutated ATRTs have been divided into three distinct molecular subgroups: ATRT-TYR, ATRT-SHH, and ATRT-MYC. These subgroups differ in terms of age at diagnosis, tumor location, type of SMARCB1 alterations, and overall survival. ATRT-SMARCA4 are, however, less well understood, and it remains unknown, whether they belong to one of the described ATRT subgroups. Here, we examined 14 ATRT-SMARCA4 by global DNA methylation analyses. We show that they form a separate group segregating from SMARCB1 mutated ATRTs and from other SMARCA4-deficient tumors like small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) or SMARCA4 mutated extra-cranial malignant rhabdoid tumors. In contrast, medulloblastoma (MB) samples with heterozygous SMARCA4 mutations do not group separately, but with established MB subgroups. RNA sequencing of ATRT-SMARCA4 confirmed the clustering results based on DNA methylation profiling and displayed an absence of typical signature genes upregulated in SMARCB1 deleted ATRT. In summary, our results suggest that, in line with previous clinical observations, ATRT-SMARCA4 should be regarded as a distinct molecular subgroup.
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000166501 650_7 $$2Other$$aATRT
000166501 650_7 $$2Other$$aBRG1
000166501 650_7 $$2Other$$aDNA methylation
000166501 650_7 $$2Other$$aRNA sequencing
000166501 650_7 $$2Other$$aRhabdoid
000166501 650_7 $$2Other$$aSMARCA4
000166501 7001_ $$0P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8$$aJohann, Pascal D$$b1$$udkfz
000166501 7001_ $$aSpohn, Michael$$b2
000166501 7001_ $$aBockmayr, Michael$$b3
000166501 7001_ $$aSafaei, Sepehr$$b4
000166501 7001_ $$0P:(DE-He78)ee036c22158d4b18f5228616af640355$$aJoshi, Piyush$$b5$$udkfz
000166501 7001_ $$aMasliah-Planchon, Julien$$b6
000166501 7001_ $$aHo, Ben$$b7
000166501 7001_ $$aAndrianteranagna, Mamy$$b8
000166501 7001_ $$aBourdeaut, Franck$$b9
000166501 7001_ $$aHuang, Annie$$b10
000166501 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b11$$udkfz
000166501 7001_ $$aUpadhyaya, Santhosh A$$b12
000166501 7001_ $$aBendel, Anne E$$b13
000166501 7001_ $$aIndenbirken, Daniela$$b14
000166501 7001_ $$aFoulkes, William D$$b15
000166501 7001_ $$aBush, Jonathan W$$b16
000166501 7001_ $$aCreytens, David$$b17
000166501 7001_ $$aKordes, Uwe$$b18
000166501 7001_ $$aFrühwald, Michael C$$b19
000166501 7001_ $$aHasselblatt, Martin$$b20
000166501 7001_ $$00000-0002-8731-1121$$aSchüller, Ulrich$$b21
000166501 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-020-02250-7$$n2$$p291-301$$tActa neuropathologica$$v142$$x1432-0533$$y2021
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