Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

[1]  F. McKenzie,et al.  The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? , 2020, American journal of medical genetics. Part A.

[2]  M. Sanz-Cortés,et al.  Prenatal detection of disseminated extrarenal malignant rhabdoid tumor with placental metastases , 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[3]  J. Trent,et al.  Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines , 2020, Clinical Cancer Research.

[4]  P. Leavey,et al.  Genomic and Immunologic Characterization of INI1-Deficient Pediatric Cancers , 2020, Clinical Cancer Research.

[5]  S. Bhaskar,et al.  A deep intronic SMARCB1 variant associated with schwannomatosis , 2020, Clinical genetics.

[6]  S. Bens,et al.  Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT). , 2019, Neuro-oncology.

[7]  S. Servaes,et al.  Whole-body magnetic resonance imaging of pediatric cancer predisposition syndromes: special considerations, challenges and perspective , 2019, Pediatric Radiology.

[8]  P. Lockhart,et al.  Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients , 2019, Journal of Human Genetics.

[9]  R. Siebert,et al.  How I approach hereditary cancer predisposition in a child with cancer , 2019, Pediatric blood & cancer.

[10]  J. Almeida,et al.  Atypical teratoid/rhabdoid sellar tumor in an adult with a familial history of a germline SMARCB1 mutation: case report and review of the literature. , 2019, World neurosurgery.

[11]  R. Erlich,et al.  SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association , 2019, Modern Pathology.

[12]  A. Agaimy SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis. , 2019, Surgical pathology clinics.

[13]  W. Foulkes,et al.  The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type , 2019, Gynecologic oncology reports.

[14]  D. Malkin,et al.  Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation , 2018, Pediatric blood & cancer.

[15]  D. Evans,et al.  Schwannomatosis: a genetic and epidemiological study , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[16]  U. Schüller,et al.  Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1 , 2018, Molecular genetics & genomic medicine.

[17]  S. Bens,et al.  Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis , 2018, European Journal of Human Genetics.

[18]  S. Bens,et al.  The extraordinary challenge of treating patients with congenital rhabdoid tumors—a collaborative European effort , 2018, Pediatric blood & cancer.

[19]  D. Evans,et al.  Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults , 2017, JAMA neurology.

[20]  J. Biegel,et al.  Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation , 2017, Pediatric blood & cancer.

[21]  G. Coppola,et al.  Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development , 2017, Nature Communications.

[22]  S. Giglio,et al.  SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type , 2017, The Journal of pathology.

[23]  P. Varlet,et al.  Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor , 2017, European Journal of Human Genetics.

[24]  David T. W. Jones,et al.  Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1‐deficient non‐rhabdoid tumor with favorable long‐term outcome , 2017, Brain pathology.

[25]  W. Foulkes,et al.  Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome , 2017, Clinical Cancer Research.

[26]  Heather Mason-Suares,et al.  The current state of clinical interpretation of sequence variants. , 2017, Current opinion in genetics & development.

[27]  D. Johnston,et al.  Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature , 2017, Journal of Neuro-Oncology.

[28]  A. Berchuck,et al.  The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases , 2016, Familial Cancer.

[29]  J. Trent,et al.  The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. , 2016, Gynecologic oncology.

[30]  C. Roberts,et al.  Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. , 2016, Neuro-oncology.

[31]  R. Siebert,et al.  Improved 6‐year overall survival in AT/RT – results of the registry study Rhabdoid 2007 , 2016, Cancer medicine.

[32]  Tao Wang,et al.  Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. , 2016, JAMA oncology.

[33]  F. Baas,et al.  Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells , 2016, Genes, chromosomes & cancer.

[34]  Roland Eils,et al.  Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. , 2016, Cancer cell.

[35]  J. Blay,et al.  Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation , 2016, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[36]  D. G. Evans,et al.  Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. , 2015, Seminars in pediatric neurology.

[37]  J. Biegel,et al.  Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis , 2015, American journal of medical genetics. Part A.

[38]  J. Y. Lee,et al.  Investigation of the location of atypical teratoid/rhabdoid tumor , 2015, Child's Nervous System.

[39]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[40]  A. Berchuck,et al.  Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type , 2015, Gynecologic oncology reports.

[41]  S. Sredni,et al.  Rhabdoid Tumor Predisposition Syndrome , 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[42]  R. Siebert,et al.  Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor. , 2014, Cancer genetics.

[43]  A. Judkins,et al.  Pathology and diagnosis of SMARCB1-deficient tumors. , 2014, Cancer genetics.

[44]  S. Raimondi,et al.  SMARCB1 deletion by a complex three-way chromosomal translocation in an extrarenal malignant rhabdoid tumor. , 2014, Cancer genetics.

[45]  J. Biegel,et al.  Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion. , 2014, Cancer genetics.

[46]  David Evans,et al.  SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. , 2014, Cancer genetics.

[47]  K. Moore,et al.  Magnetic Resonance Imaging Spectroscopy in Pediatric Atypical Teratoid Rhabdoid Tumors of the Brain , 2014, Journal of pediatric hematology/oncology.

[48]  R. Siebert,et al.  SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis , 2014, Acta Neuropathologica.

[49]  P. Modena,et al.  Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS) , 2014, Pediatric blood & cancer.

[50]  F. Baas,et al.  Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors , 2014, Acta Neuropathologica.

[51]  Jason J. Corneveaux,et al.  Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 , 2014, Nature Genetics.

[52]  R. Siebert,et al.  Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type , 2014, Nature Genetics.

[53]  N. Schultz,et al.  Recurrent SMARCA4 mutations in small cell carcinoma of the ovary , 2014, Nature Genetics.

[54]  P. Wesseling,et al.  SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis , 2014, The American journal of surgical pathology.

[55]  Winnie S. Liang,et al.  Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) , 2014, Rare diseases.

[56]  W. Grajkowska,et al.  Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study. , 2013, Polish journal of pathology : official journal of the Polish Society of Pathologists.

[57]  W. Foulkes,et al.  Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again , 2013, The Journal of pathology.

[58]  C. Stiller,et al.  Extracranial rhabdoid tumours: what we have learned so far and future directions. , 2013, The Lancet. Oncology.

[59]  B. Ritz,et al.  Epidemiology of rhabdoid tumors of early childhood , 2013, Pediatric blood & cancer.

[60]  O. Delattre,et al.  Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations. , 2012, The American journal of surgical pathology.

[61]  J. Zonana,et al.  Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1. , 2012, The American Journal of dermatopathology.

[62]  F. Baas,et al.  Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri , 2012, neurogenetics.

[63]  J. Biegel,et al.  Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system , 2011, Pediatric blood & cancer.

[64]  Jiwang Zhang,et al.  Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor , 2011, Genes, chromosomes & cancer.

[65]  A. Hunter,et al.  Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour. , 2011, European journal of medical genetics.

[66]  J. Biegel,et al.  Educational paper , 2011, European Journal of Pediatrics.

[67]  J. Biegel,et al.  Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors , 2011, Pediatric blood & cancer.

[68]  N. André,et al.  Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor , 2011, Clinical Cancer Research.

[69]  R. Siebert,et al.  Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. , 2010, American journal of human genetics.

[70]  R. Siebert,et al.  Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor , 2010, Genes, chromosomes & cancer.

[71]  F. Bernier,et al.  Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor , 2009, American journal of medical genetics. Part A.

[72]  P. D. Dal Cin,et al.  Loss of INI1 Expression is Characteristic of Both Conventional and Proximal-type Epithelioid Sarcoma , 2009, The American journal of surgical pathology.

[73]  T. Shaikh,et al.  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 , 2009, Clinical Cancer Research.

[74]  J. Biegel,et al.  Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 , 2008, Journal of Medical Genetics.

[75]  P. Wesseling,et al.  Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation , 2008, Child's Nervous System.

[76]  Jason I. Herschkowitz,et al.  Characterization of mammary tumors from Brg1 heterozygous mice , 2008, Oncogene.

[77]  F. Baas,et al.  Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome , 2007, British Journal of Cancer.

[78]  T. Shaikh,et al.  High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor , 2007, Human Genetics.

[79]  O. Delattre,et al.  Rhabdoid Tumor of the Kidney Is a Component of the Rhabdoid Predisposition Syndrome , 2002, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[80]  K. Hoang-Xuan,et al.  Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. , 1999, Human molecular genetics.

[81]  O. Delattre,et al.  Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. , 1999, American journal of human genetics.

[82]  Robert R. L. Smith,et al.  Medulloblastoma in association with the Coffin-Siris syndrome , 1988, Child's Nervous System.

[83]  B. Pawel SMARCB1-deficient Tumors of Childhood: A Practical Guide , 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[84]  J. Biegel,et al.  Biology and Treatment of Rhabdoid Tumor. , 2015, Critical reviews in oncogenesis.

[85]  F. Sangiuolo,et al.  Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism , 2015, Familial Cancer.