SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

被引：141

作者：

Hasselblatt, Martin ^{[1
]}

Nagel, Inga ^{[2
,3
]}

Oyen, Florian ^{[4
]}

Bartelheim, Kerstin ^{[5
,6
]}

Russell, Robert B. ^{[7
]}

Schueller, Ulrich ^{[8
]}

Junckerstorff, Reimar ^{[9
,10
]}

Rosenblum, Marc ^{[11
]}

Alassiri, Ali H. ^{[12
]}

Rossi, Sabrina ^{[13
]}

Schmid, Irene ^{[14
]}

Gottardo, Nicholas G. ^{[15
]}

Toledano, Helen ^{[16
]}

Viscardi, Elisabetta ^{[17
]}

Balbin, Milagros ^{[18
]}

Witkowski, Leora ^{[19
]}

Lu, Qianhao ^{[7
]}

Betts, Matthew J. ^{[7
]}

Foulkes, William D. ^{[19
]}

Siebert, Reiner ^{[2
,3
]}

Fruehwald, Michael C. ^{[5
,6
]}

Schneppenheim, Reinhard ^{[4
]}

机构：

[1] Univ Hosp Munster, Inst Neuropathol, D-48149 Munster, Germany

[2] Univ Kiel, Inst Human Genet, Kiel, Germany

[3] Univ Hosp Schleswig Holstein, Kiel, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Dept Hematol & Oncol, Hamburg, Germany

[5] Childrens Hosp Augsburg, Swabian Childrens Canc Ctr, Augsburg, Germany

[6] EU RHAB Registry, Augsburg, Germany

[7] Heidelberg Univ, CellNetworks, Heidelberg, Germany

[8] Univ Munich, Ctr Neuropathol, Munich, Germany

[9] Royal Perth Hosp, Sect Neuropathol, PathWest Lab Med WA, Perth, WA 6001, Australia

[10] Univ Western Australia, Sch Pathol & Lab Med, Nedlands, WA 6009, Australia

[11] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

[12] King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia

[13] Reg Hosp, Dept Pathol, Treviso, Italy

[14] Univ Munich, Dept Hematol & Oncol, Dr von Hauner Childrens Hosp, Munich, Germany

[15] Princess Margaret Hosp Children, Dept Pediat Oncol Hematol, Perth, WA, Australia

[16] Schneider Childrens Med Ctr, Dept Hematol Oncol, Petah Tiqwa, Israel

[17] Univ Padua, Dept Pediat, Padua, Italy

[18] Hosp Univ Cent Asturias, Lab Oncol Mol IUOPA, Oviedo, Spain

[19] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

来源：

ACTA NEUROPATHOLOGICA | 2014年 / 128卷 / 03期

关键词：

SMALL-CELL CARCINOMA; RHABDOID TUMORS; HYPERCALCEMIC TYPE; SMARCA4; MUTATIONS; SOMATIC MUTATIONS; MEDULLOBLASTOMA; OVARY;

D O I：

10.1007/s00401-014-1323-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：453 / 456

页数：4

共 18 条

[1] Clinicopathologic Comparison of Familial Versus Sporadic Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System [J].

Bruggers, Carol S. ;

Bleyl, Steven B. ;

Pysher, Theodore ;

Barnette, Philip ;

Afify, Zeinab ;

Walker, Marion ;

Biegel, Jaclyn A. .

PEDIATRIC BLOOD & CANCER, 2011, 56 (07) :1026-1031

[2] BAF complexes facilitate decatenation of DNA by topoisomerase IIα [J].

Dykhuizen, Emily C. ;

Hargreaves, Diana C. ;

Miller, Erik L. ;

Cui, Kairong ;

Korshunov, Andrey ;

Kool, Marcel ;

Pfister, Stefan ;

Cho, Yoon-Jae ;

Zhao, Keji ;

Crabtree, Gerald R. .

NATURE, 2013, 497 (7451) :624-+

[3] Spectrum of SMARCB1/INI1 Mutations in Familial and Sporadic Rhabdoid Tumors [J].

Eaton, Katherine W. ;

Tooke, Laura S. ;

Wainwright, Luanne M. ;

Judkins, Alexander R. ;

Biegel, Jaclyn A. .

PEDIATRIC BLOOD & CANCER, 2011, 56 (01) :7-15

[4] Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome [J].

Fruehwald, Michael C. ;

Hasselblatt, Martin ;

Wirth, Sebastian ;

Koehler, Gabriele ;

Schneppenheim, Reinhard ;

Martin Subero, Jose Igancio ;

Siebert, Reiner ;

Kordes, Uwe ;

Juergens, Heribert ;

Vormoor, Josef .

PEDIATRIC BLOOD & CANCER, 2006, 47 (03) :273-278

[5] Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression [J].

Hasselblatt, Martin ;

Gesk, Stefan ;

Oyen, Florian ;

Rossi, Sabrina ;

Viscardi, Elisabetta ;

Giangaspero, Felice ;

Giannini, Caterina ;

Judkins, Alexander R. ;

Fruehwald, Michael C. ;

Obser, Tobias ;

Schneppenheim, Reinhard ;

Siebert, Reiner ;

Paulus, Werner .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2011, 35 (06) :933-935

[6] Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors [J].

Jackson, Eric M. ;

Sievert, Angela J. ;

Gai, Xiaowu ;

Hakonarson, Hakon ;

Judkins, Alexander R. ;

Tooke, Laura ;

Perin, Juan Carlos ;

Xie, Hongbo ;

Shaikh, Tamirn H. ;

Biegel, Jaclyn A. .

CLINICAL CANCER RESEARCH, 2009, 15 (06) :1923-1930

[7] Recurrent SMARCA4 mutations in small cell carcinoma of the ovary [J].

Jelinic, Petar ;

Mueller, Jennifer J. ;

Olveral, Narciso ;

Dao, Fanny ;

Scott, Sasinya N. ;

Shah, Ronak ;

Gao, JianJiong ;

Schultz, Nikolaus ;

Gonen, Mithat ;

Soslow, Robert A. ;

Berger, Michael F. ;

Levine, Douglas A. .

NATURE GENETICS, 2014, 46 (05) :424-426

[8] Dissecting the genomic complexity underlying medulloblastoma [J].

Jones, David T. W. ;

Jaeger, Natalie ;

Kool, Marcel ;

Zichner, Thomas ;

Hutter, Barbara ;

Sultan, Marc ;

Cho, Yoon-Jae ;

Pugh, Trevor J. ;

Hovestadt, Volker ;

Stuetz, Adrian M. ;

Rausch, Tobias ;

Warnatz, Hans-Joerg ;

Ryzhova, Marina ;

Bender, Sebastian ;

Sturm, Dominik ;

Pleier, Sabrina ;

Cin, Huriye ;

Pfaff, Elke ;

Sieber, Laura ;

Wittmann, Andrea ;

Remke, Marc ;

Witt, Hendrik ;

Hutter, Sonja ;

Tzaridis, Theophilos ;

Weischenfeldt, Joachim ;

Raeder, Benjamin ;

Avci, Meryem ;

Amstislavskiy, Vyacheslav ;

Zapatka, Marc ;

Weber, Ursula D. ;

Wang, Qi ;

Lasitschka, Baerbel ;

Bartholomae, Cynthia C. ;

Schmidt, Manfred ;

von Kalle, Christof ;

Ast, Volker ;

Lawerenz, Chris ;

Eils, Juergen ;

Kabbe, Rolf ;

Benes, Vladimir ;

van Sluis, Peter ;

Koster, Jan ;

Volckmann, Richard ;

Shih, David ;

Betts, Matthew J. ;

Russell, Robert B. ;

Coco, Simona ;

Tonini, Gian Paolo ;

Schueller, Ulrich ;

Hans, Volkmar .

NATURE, 2012, 488 (7409) :100-105

[9] Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms [J].

Judkins, AR ;

Mauger, J ;

Rorke, LB ;

Biegel, JA .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2004, 28 (05) :644-650

[10] Clinical and Molecular Features in Patients with Atypical Teratoid Rhabdoid Tumor or Malignant Rhabdoid Tumor [J].

Kordes, Uwe ;

Gesk, Stefan ;

Fruehwald, Michael Christoph ;

Graf, Norbert ;

Leuschner, Ivo ;

Hasselblatt, Martin ;

Jeibmann, Astrid ;

Oyen, Florian ;

Peters, Ove ;

Pietsch, Torsten ;

Siebert, Reiner ;

Schneppenheim, Reinhard .

GENES CHROMOSOMES & CANCER, 2010, 49 (02) :176-181

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