rhabdoid tumor

Summary

Summary: A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)

Top Publications

  1. Alarcon Vargas D, Zhang Z, Agarwal B, Challagulla K, Mani S, Kalpana G. Targeting cyclin D1, a downstream effector of INI1/hSNF5, in rhabdoid tumors. Oncogene. 2006;25:722-34 pubmed
    ..These results demonstrate that 4-HPR and tamoxifen are effective chemotherapeutic agents for RTs. We propose that downmodulation of cyclin D1 is a novel and effective therapeutic strategy for RTs. ..
  2. Bikowska B, Grajkowska W, Jozwiak J. Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. Eur J Neurol. 2011;18:813-8 pubmed publisher
    Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor typically appearing in childhood...
  3. Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol. 2011;35:933-5 pubmed publisher
    ..2032C>T (p.Q678X)]. Our findings highlight the role of SMARCA4 in the pathogenesis of SMARCB1-positive AT/RT and the usefulness of antibodies directed against SMARCA4 in this diagnostic setting. ..
  4. Ma J, Zhou X, Huang W, Zhou H, Jiang S, Rao Q, et al. [Clinicopathologic study of renal cell carcinoma with rhabdoid features]. Zhonghua Bing Li Xue Za Zhi. 2007;36:166-70 pubmed
    ..are mainly observed in clear cell RCC and need to be distinguished from oncocytic renal tumors and malignant rhabdoid tumor of kidney...
  5. Kuwahara Y, Charboneau A, Knudsen E, Weissman B. Reexpression of hSNF5 in malignant rhabdoid tumor cell lines causes cell cycle arrest through a p21(CIP1/WAF1)-dependent mechanism. Cancer Res. 2010;70:1854-65 pubmed publisher
    Loss of hSNF5 function is usually observed in malignant rhabdoid tumor (MRT), a highly aggressive pediatric neoplasm...
  6. Chen Y, Wong T, Ho D, Huang P, Chang K, Shiau C, et al. Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). Int J Radiat Oncol Biol Phys. 2006;64:1038-43 pubmed
    To assess outcomes and prognostic factors in radiotherapy of pediatric central nervous system atypical teratoid/rhabdoid tumor (AT/RT)...
  7. Allen J, Judkins A, Rosenblum M, Biegel J. Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol. 2006;8:79-82 pubmed
    We report an atypical teratoid/rhabdoid tumor arising in a ganglioglioma from an 11-year-old male who had been treated over a nine-year period...
  8. Dufour C, Beaugrand A, Le Deley M, Bourdeaut F, Andre N, Leblond P, et al. Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer. 2012;118:3812-21 pubmed publisher
    ..03) as prognostic factors for the risk of death. AT/RT tumors in children carry a dismal prognosis. Age <2 years, metastasis at diagnosis, and strong claudin-6 positivity appeared to be independent prognostic factors for outcome. ..
  9. Ammerlaan A, Ararou A, Houben M, Baas F, Tijssen C, Teepen J, et al. Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome. Br J Cancer. 2008;98:474-9 pubmed

More Information

Publications91

  1. Knipstein J, Birks D, Donson A, Alimova I, Foreman N, Vibhakar R. Histone deacetylase inhibition decreases proliferation and potentiates the effect of ionizing radiation in atypical teratoid/rhabdoid tumor cells. Neuro Oncol. 2012;14:175-83 pubmed publisher
    Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant central nervous system neoplasm that primarily occurs in children less than 3 years of age...
  2. Caramel J, Medjkane S, Quignon F, Delattre O. The requirement for SNF5/INI1 in adipocyte differentiation highlights new features of malignant rhabdoid tumors. Oncogene. 2008;27:2035-44 pubmed
    ..that is inactivated in a highly aggressive childhood cancer of unknown cellular origin, termed malignant rhabdoid tumor (MRT)...
  3. Bruggers C, Bleyl S, Pysher T, Barnette P, Afify Z, Walker M, et al. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011;56:1026-31 pubmed publisher
  4. Pancione M, Di Blasi A, Sabatino L, Fucci A, Dalena A, Palombi N, et al. A novel case of rhabdoid colon carcinoma associated with a positive CpG island methylator phenotype and BRAF mutation. Hum Pathol. 2011;42:1047-52 pubmed publisher
    ..This is the first case of a colorectal carcinoma with rhabdoid features, "CpG island methylator phenotype," high microsatellite instability associated with a BRAF mutation, and patient poorer outcome. ..
  5. Judkins A, Ellison D. Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*. Brain Pathol. 2010;20:133-9 pubmed publisher
    ..setting of a typical primitive neuroectodermal tumor (PNET), medulloblastoma (MB) or atypical teratoid/rhabdoid tumor (AT/RT). The remaining cases were all embryonal tumors with structures that mimicked ependymoblastic rosettes...
  6. Huang C, Cutcliffe C, Coffin C, Sorensen P, Beckwith J, Perlman E. Classification of malignant pediatric renal tumors by gene expression. Pediatr Blood Cancer. 2006;46:728-38 pubmed
    ..are Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), cellular mesoblastic nephroma (CMN), and rhabdoid tumor of the kidney (RTK)...
  7. Jackson E, Sievert A, Gai X, Hakonarson H, Judkins A, Tooke L, 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. Clin Cancer Res. 2009;15:1923-30 pubmed publisher
    ..2. By employing a multimodality approach, the wide spectrum of alterations of INI1 can be identified in the majority of patients, which increases the clinical utility of molecular diagnostic testing. ..
  8. Armeanu Ebinger S, Herrmann D, Bonin M, Leuschner I, Warmann S, Fuchs J, et al. Differential expression of miRNAs in rhabdomyosarcoma and malignant rhabdoid tumor. Exp Cell Res. 2012;318:2567-77 pubmed publisher
    Alveolar rhabdomyosarcoma (RMA) and malignant rhabdoid tumor (MRT) have a frequent metastatic spread and a poor prognosis. Aberrant miRNA expression is often found in metastatic tumors...
  9. Athale U, Duckworth J, Odame I, Barr R. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol. 2009;31:651-63 pubmed publisher
    Therapy for central nervous system (CNS) atypical teratoid rhabdoid tumor (ATRT) is controversial. We describe 4 children treated with sarcoma-like therapy and review the literature to evaluate outcome in relation to treatment modalities...
  10. Narendra H, Ray S, Rao L, Geetha V. Malignant extrarenal rhabdoid tumor of the vulva in an adult. J Cancer Res Ther. 2010;6:82-5 pubmed publisher
    ..Malignant rhabdoid tumor (MRT) of the kidney is a distinctive clinicopathological entity that is recognized as a highly aggressive ..
  11. Meyers S, Khademian Z, Biegel J, Chuang S, Korones D, Zimmerman R. Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006;27:962-71 pubmed
    ..gene was responsible for the simultaneous occurrence of an intracranial AT/RT and a malignant renal rhabdoid tumor in a 4-month-old patient. Mean tumor sizes were 3.6 x 3.8 x 3.9 cm...
  12. Finkelstein Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U, et al. Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol. 2010;32:e182-6 pubmed publisher
    ..However, evidence of neuro-cognitive impairment even in the absence of radiotherapy in this young population suggests that systematic introduction of radiotherapy in current protocols should be carefully assessed. ..
  13. Jóźwiak J, Bikowska B, Grajkowska W, Sontowska I, Roszkowski M, Galus R. Activation of Akt/mTOR pathway in a patient with atypical teratoid/rhabdoid tumor. Folia Neuropathol. 2010;48:185-9 pubmed
    A typical teratoid/rhabdoid tumor (AT/RT) is a highly malignant childhood brain tumor. Most AT/RTs are shown to contain chromosome 22 mutation in the region of hSNF5/INI1 gene, whose protein product participates in chromatin remodeling...
  14. Morozov A, Lee S, Zhang Z, Cimica V, Zagzag D, Kalpana G. INI1 induces interferon signaling and spindle checkpoint in rhabdoid tumors. Clin Cancer Res. 2007;13:4721-30 pubmed
    ..IFN treatment and down-modulation of PLK1 constitute potential novel therapeutic strategies for rhabdoid tumors. ..
  15. Tsikitis M, Zhang Z, Edelman W, Zagzag D, Kalpana G. Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. Proc Natl Acad Sci U S A. 2005;102:12129-34 pubmed
    ..Our results provide an in vivo proof of concept that drugs that target Cyclin D1 expression or activity could be potentially effective as novel therapeutic agents for rhabdoid tumors. ..
  16. Donovan D, Smith A, Petermann G. Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival. Pediatr Neurosurg. 2006;42:187-92 pubmed
    ..Spontaneous brain hemorrhage in a full-term infant requires a diligent and persistent search to rule out an underlying neoplasm...
  17. Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, et al. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer. 2013;52:185-90 pubmed publisher
    Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor characterized by genetic alterations affecting the SMARCB1 (hSNF5/INI1) locus in chromosome band 22q11.2...
  18. Albanese P, Belin M, Delattre O. The tumour suppressor hSNF5/INI1 controls the differentiation potential of malignant rhabdoid cells. Eur J Cancer. 2006;42:2326-34 pubmed
    ..Further experiments should enable documentation of whether it provides instructive or permissive signals for differentiation. ..
  19. Isaacs H. Fetal and neonatal rhabdoid tumor. J Pediatr Surg. 2010;45:619-26 pubmed publisher
    Few studies have focused on the behavior of rhabdoid tumor (RT) in the fetus and neonate. The purpose of this review is to show that perinatal RTs are associated with unusual findings and a poor prognosis...
  20. McKenna E, Sansam C, Cho Y, Greulich H, Evans J, Thom C, et al. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol. 2008;28:6223-33 pubmed publisher
  21. Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011;17:31-8 pubmed publisher
    ..Our study provides the first precise overview of the prevalence of RPS within a large cohort of RT...
  22. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Izumi T, Ohta S, et al. Highly aggressive behavior of malignant rhabdoid tumor: a special reference to SMARCB1/INI1 gene alterations using molecular genetic analysis including quantitative real-time PCR. J Cancer Res Clin Oncol. 2007;133:817-24 pubmed
    ..pathway, has been reported to be inactivated homozygously by deletion and/or mutations in malignant rhabdoid tumor (MRT)...
  23. Kordes U, Gesk S, Frühwald M, Graf N, Leuschner I, Hasselblatt M, et al. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer. 2010;49:176-81 pubmed publisher
    The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR...
  24. Sultan I, Qaddoumi I, Rodriguez Galindo C, Nassan A, Ghandour K, Al Hussaini M. Age, stage, and radiotherapy, but not primary tumor site, affects the outcome of patients with malignant rhabdoid tumors. Pediatr Blood Cancer. 2010;54:35-40 pubmed publisher
    ..Malignant rhabdoid tumors (MRTs) are aggressive and often fatal; the Surveillance, Epidemiology, and End Results (SEER) database offers an opportunity to study this rare malignancy...
  25. Gardner S, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J. Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer. 2008;51:235-40 pubmed publisher
    ..Historically, surgery and standard dose chemotherapy have resulted in a median survival of 8.5 months from diagnosis...
  26. Kia S, Gorski M, Giannakopoulos S, Verrijzer C. SWI/SNF mediates polycomb eviction and epigenetic reprogramming of the INK4b-ARF-INK4a locus. Mol Cell Biol. 2008;28:3457-64 pubmed publisher
    ..Thus, various chromatin states can be modulated by SWI/SNF action. Collectively, these findings emphasize the close interconnectivity and dynamics of diverse chromatin modifications in cancer and gene control...
  27. Katsumi Y, Kuwahara Y, Tamura S, Kikuchi K, Otabe O, Tsuchiya K, et al. Trastuzumab activates allogeneic or autologous antibody-dependent cellular cytotoxicity against malignant rhabdoid tumor cells and interleukin-2 augments the cytotoxicity. Clin Cancer Res. 2008;14:1192-9 pubmed publisher
    Malignant rhabdoid tumor (MRT) is an early childhood cancer with poor prognosis...
  28. Nicolaides T, Tihan T, Horn B, Biegel J, Prados M, Banerjee A. High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010;98:117-23 pubmed publisher
    ..Two of nine patients treated for AT/RT at our institution with high dose chemotherapy and autologous bone marrow transplant are long-term survivors, suggesting that a subset of patients can be cured with this approach...
  29. Biswas A, Goyal S, Puri T, Das P, Sarkar C, Julka P, et al. Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. Childs Nerv Syst. 2009;25:1495-500 pubmed publisher
    Intracranial atypical teratoid rhabdoid tumor is an uncommon malignancy with a dismal outcome. Commonly misdiagnosed over the decades as primitive neuroectodermal tumor of the brain, it has dramatically different biological behavior.
  30. Morgenstern D, Gibson S, Brown T, Sebire N, Anderson J. Clinical and pathological features of paediatric malignant rhabdoid tumours. Pediatr Blood Cancer. 2010;54:29-34 pubmed publisher
    ..Although there are isolated reports of long-term survival with intensive, multimodal therapy, outcomes are generally poor...
  31. Ertan Y, Sezak M, Turhan T, Kantar M, Ersahin Y, Mutluer S, et al. Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases. Childs Nerv Syst. 2009;25:707-11 pubmed publisher
    Atypical teratoid/rhabdoid tumor (AT/RT) is a rare aggressive infantile neoplasm of uncertain origin. This study was performed to assess the clinicopathologic and immunohistochemical features of four AT/RT cases.
  32. Kieran M, Roberts C, Chi S, Ligon K, Rich B, MacConaill L, et al. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012;59:1155-7 pubmed publisher
    Rhabdoid tumors (also called atypical teratoid/rhabdoid tumor (AT/RT) in the brain), are highly malignant, poor prognosis lesions arising in the kidneys, soft tissues, and central nervous system...
  33. Krust B, El Khoury D, Soundaramourty C, Nondier I, Hovanessian A. Suppression of tumorigenicity of rhabdoid tumor derived G401 cells by the multivalent HB-19 pseudopeptide that targets surface nucleolin. Biochimie. 2011;93:426-33 pubmed publisher
    ..Here we show that treatment of rhabdoid tumor derived G401 cells with a nucleolin antagonist, the HB-19 pseudopeptide, could restore contact inhibition, ..
  34. Lee R, Stewart C, Carter S, Ambrogio L, Cibulskis K, Sougnez C, et al. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012;122:2983-8 pubmed publisher
    ..Our results demonstrate that high mutation rates are dispensable for the genesis of cancers driven by mutation of a chromatin remodeling complex. Consequently, cancer can be a remarkably genetically simple disease...
  35. D cunja J, Shalaby T, Rivera P, von Büren A, Patti R, Heppner F, et al. Antisense treatment of IGF-IR induces apoptosis and enhances chemosensitivity in central nervous system atypical teratoid/rhabdoid tumours cells. Eur J Cancer. 2007;43:1581-9 pubmed
    ..These studies provide evidence for the influence of IGF-IR on cellular responses to chemotherapy and raise the possibility that curability of selected CNS AT/RT may be improved by pharmaceutical strategies directed towards the IGF-IR...
  36. McKenna E, Tamayo P, Cho Y, Tillman E, Mora Blanco E, Sansam C, et al. Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors. Cell Cycle. 2012;11:1956-65 pubmed publisher
    ..Identification of BIN1 as a SNF5 target gene reveals a novel tumor suppressive regulatory mechanism whose disruption can drive cancer formation. ..
  37. Roberts C, Biegel J. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009;8:412-6 pubmed
  38. Lee S, Cimica V, Ramachandra N, Zagzag D, Kalpana G. Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival. Cancer Res. 2011;71:3225-35 pubmed publisher
    ..We propose that a high degree of Aurora A expression may play a role in aggressive behavior of RTs and that targeting expression or activity of this gene is a novel therapeutic strategy for these tumors...
  39. Buscariollo D, Park H, Roberts K, Yu J. Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis. Cancer. 2012;118:4212-9 pubmed publisher
    Atypical teratoid rhabdoid tumor (ATRT) is a rare central nervous system malignancy with a poor prognosis that affects mostly young children...
  40. Shalaby T, Von Bueren A, Hürlimann M, Fiaschetti G, Castelletti D, Masayuki T, et al. Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD. Mol Cancer Ther. 2010;9:167-79 pubmed publisher
    ..On in vivo animal testing, S2T1-6OTD may well represent a novel therapeutic strategy for childhood brain tumors...
  41. Squire S, Chan M, Marcus K. Atypical teratoid/rhabdoid tumor: the controversy behind radiation therapy. J Neurooncol. 2007;81:97-111 pubmed
    To date, approximately 200 cases of atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system have been described in the literature...
  42. Kleinschmidt DeMasters B, Birks D, Aisner D, Hankinson T, Rosenblum M. Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: genetic characterization. Am J Surg Pathol. 2011;35:1894-901 pubmed publisher
    Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, aggressive, embryonal pediatric brain tumor that almost always develops de novo and does not arise within, or evolve from, other brain tumor types...
  43. Haberler C, Laggner U, Slavc I, Czech T, Ambros I, Ambros P, et al. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol. 2006;30:1462-8 pubmed
  44. Okuno K, Ohta S, Kato H, Taga T, Sugita K, Takeuchi Y. Expression of neural stem cell markers in malignant rhabdoid tumor cell lines. Oncol Rep. 2010;23:485-92 pubmed
    Malignant rhabdoid tumor (MRT) is considered to display multi-phenotypic characteristics but the true origin of this tumor remains unknown. In recent years, the concept of the cancer stem cell (CSC) has drawn great attention...
  45. Klochendler Yeivin A, Picarsky E, Yaniv M. Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex. Mol Cell Biol. 2006;26:2661-74 pubmed
    ..p53 inactivation does not rescue the proliferation defect caused by Snf5 deficiency but reduces apoptosis and strongly accelerates tumor formation in Snf5-heterozygous mice...
  46. Zarovnaya E, Pallatroni H, Hug E, Ball P, Cromwell L, Pipas J, et al. Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol. 2007;84:49-55 pubmed
    ..An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.
  47. van den Heuvel Eibrink M, Van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B, et al. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer. 2011;56:733-7 pubmed publisher
    ..Survival data of malignant rhabdoid tumour of the kidney (MRTK) registered in SIOP trials, advocating preoperative chemotherapy, are not available...
  48. Strother D. Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges. Expert Rev Anticancer Ther. 2005;5:907-15 pubmed
    Atypical teratoid rhabdoid tumor of the brain was described as a unique entity in the late 1980s. It occurs primarily in early childhood but the true incidence of the disease is not yet known...
  49. Donner L, Wainwright L, Zhang F, Biegel J. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007;38:935-9 pubmed
    ..that contain a component of rhabdoid cells, which are characteristic of the aggressive childhood malignant rhabdoid tumor. Pediatric rhabdoid tumors are characterized by the inactivation of the hSNF5/INI1/SMARCB1 gene, with ..
  50. Chacko G, Chacko A, Dunham C, Judkins A, Biegel J, Perry A. Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007;84:217-22 pubmed
    ..We speculate that the PXA was a quiescent tumor and that the secondary genetic alterations, including inactivation of the INI1 gene led to clinical progression...
  51. Gadd S, Sredni S, Huang C, Perlman E. Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets. Lab Invest. 2010;90:724-38 pubmed publisher
  52. Frühwald M, Hasselblatt M, Wirth S, Kohler G, Schneppenheim R, Subero J, et al. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer. 2006;47:273-8 pubmed
    Rhabdoid tumors represent an independent entity among embryonal neoplasms. These tumors affect the kidney (RTK, rhabdoid tumor of kidney) and central nervous system (AT/RT, atypical teratoid, rhabdoid tumor), but may also be found in ..
  53. Wu X, Dagar V, Algar E, Muscat A, Bandopadhayay P, Ashley D, et al. Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour. Pathology. 2008;40:664-70 pubmed publisher
  54. Isakoff M, Sansam C, Tamayo P, Subramanian A, Evans J, Fillmore C, et al. Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A. 2005;102:17745-50 pubmed
    ..Further, conditional mouse models demonstrate that inactivation of p16Ink4a or Rb (retinoblastoma) does not accelerate tumor formation in Snf5 conditional mice, whereas mutation of p53 leads to a dramatic acceleration of tumor formation...
  55. Tholpady A, Lonergan C, Wick M. Proximal-type epithelioid sarcoma of the vulva: relationship to malignant extrarenal rhabdoid tumor. Int J Gynecol Pathol. 2010;29:600-4 pubmed publisher
    ..We report a case of this entity and discuss its relationship to the epithelial-type "malignant rhabdoid tumor" (MRT) of the soft tissue...
  56. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Oshiro Y, Izumi T, et al. SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. Am J Surg Pathol. 2008;32:1168-74 pubmed publisher
    Several previous studies have demonstrated the lack of SMARCB1/INI1 protein expression in only the malignant rhabdoid tumor (MRT). Several sarcoma groups are associated with a tumor-specific translocation involving EWS...
  57. Oda Y, Tsuneyoshi M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int. 2006;56:287-95 pubmed
    Malignant rhabdoid tumor (MRT) of the soft tissue is a rare and highly aggressive tumor that occurs in infancy or childhood. It predominantly involves a deep axial location such as the neck or paraspinal region...
  58. Remo A, Zanella C, Molinari E, Talamini A, Tollini F, Piacentini P, et al. Rhabdoid carcinoma of the colon: a distinct entity with a very aggressive behavior: a case report associated with a polyposis coli and review of the literature. Int J Surg Pathol. 2012;20:185-90 pubmed publisher
    ..It is argued that RCT could be a very aggressive entity of colon, which could benefit from new biological colonic treatments...
  59. Jackson E, Shaikh T, Gururangan S, Jones M, Malkin D, Nikkel S, et al. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet. 2007;122:117-27 pubmed
    ..2. These are the first reported cases in which an association has been established between recurrent, interstitial deletions mediated by LCRs in 22q11.2 and a predisposition to cancer...
  60. Watanabe M, Adachi S, Matsubara H, Imai T, Yui Y, Mizushima Y, et al. Induction of autophagy in malignant rhabdoid tumor cells by the histone deacetylase inhibitor FK228 through AIF translocation. Int J Cancer. 2009;124:55-67 pubmed publisher
    ..Using immunoelectron microscopy, we confirmed AIF translocation into the nucleus of FK228-induced autophagic cells in vivo. Thus, FK228 is a novel candidate for an antitumor agent for MRT cells...
  61. Yanagisawa S, Kadouchi I, Yokomori K, Hirose M, Hakozaki M, Hojo H, et al. Identification and metastatic potential of tumor-initiating cells in malignant rhabdoid tumor of the kidney. Clin Cancer Res. 2009;15:3014-22 pubmed publisher
    Malignant rhabdoid tumor of the kidney (MRTK) is a rare and highly aggressive malignancy of infanthood...
  62. Chai J, Charboneau A, Betz B, Weissman B. Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells. Cancer Res. 2005;65:10192-8 pubmed
    ..In summary, our studies suggest that hSNF5 loss may influence the regulation of multiple CDK inhibitors involved in replicative senescence...
  63. Yamamoto M, Suzuki N, Hatakeyama N, Mizue N, Hori T, Kuroiwa Y, et al. Treatment of stage IV malignant rhabdoid tumor of the kidney (MRTK) with ICE and VDCy: a case report. J Pediatr Hematol Oncol. 2006;28:286-9 pubmed
    The prognosis of stage IV malignant rhabdoid tumor of the kidney (MRTK) has been extremely poor...
  64. Banzai C, Yahata T, Sasahara J, Kashima K, Fujita K, Nishikura K, et al. Advanced malignant rhabdoid tumor of the ovary effectively responding to chemotherapy: a case report and review of the literature. Gynecol Oncol. 2007;105:261-5 pubmed
    ..Primary ovarian cases are extremely rare. We herein describe the third known case of ovarian origin, which effectively responded to combination chemotherapy with ifosfamide, epirubicin, and cisplatin (IEP chemotherapy)...
  65. Wykoff C, Lam B, Brathwaite C, Biegel J, McKeown C, Rosenblum M, et al. Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. J Neuroophthalmol. 2008;28:207-11 pubmed publisher
    ..Rapid enlargement of the lesion over 1 month led to subtotal neurosurgical resection of an atypical teratoid/rhabdoid tumor (AT/RT), a rare, highly aggressive malignancy of infancy closely related histologically to medulloblastoma and ..
  66. Bouvier C, de Paula A, Fernandez C, Quilichini B, Scavarda D, Gentet J, et al. Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst. 2008;24:143-7 pubmed
    ..Immunohistochemistry anti-INI1 performed on both tumours was negative. Molecular techniques performed on frozen specimen of the orbital tumour confirmed the diagnosis of atypical teratoid/rhabdoid tumour (ATRT)...
  67. Shim K, Xi G, Farnell B, Kim D, Tsurubuchi T, Tomita T, et al. Epigenetic modification after inhibition of IGF-1R signaling in human central nervous system atypical teratoid rhabdoid tumor (AT/RT). Childs Nerv Syst. 2013;29:1245-51 pubmed publisher
    ..This study investigated epigenetic modifications in human central nervous system atypical teratoid rhabdoid tumors (AT/RTs), in response to inhibition of insulin-like growth factor receptor 1 (IGF-1R)...
  68. Nagata T, Takahashi Y, Ishii Y, Asai S, Sugahara Kobayashi M, Nishida Y, et al. Molecular genetic alterations and gene expression profile of a malignant rhabdoid tumor of the kidney. Cancer Genet Cytogenet. 2005;163:130-7 pubmed
    Malignant rhabdoid tumor of the kidney (MRTK) is a rare but highly aggressive tumor in children, and knowledge about the molecular signature of this tumor is limited...
  69. Jackson E, Shaikh T, Zhang F, Wainwright L, Storm P, Hakonarson H, et al. Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2007;143A:1767-70 pubmed
    ..Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT)...
  70. Honda M, Baba H, Yonekura M, Iseki M. Cerebral composite atypical teratoid/rhabdoid tumor and yolk sac tumor in the frontal lobe of an infant. Case report. Neurol Med Chir (Tokyo). 2005;45:318-21 pubmed
    A 1-year-old male infant presented with a rare cerebral composite tumor consisting of atypical teratoid/rhabdoid tumor (AT/RT) with epithelial and mesenchymal components and yolk sac tumor (YST) with Schiller-Duval bodies...
  71. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, et al. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol. 2009;28:1-10 pubmed
    ..We described a case of this tumor in an 18-year-old male patient without previous medical history...
  72. Algar E, Muscat A, Dagar V, Rickert C, Chow C, Biegel J, et al. Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. PLoS ONE. 2009;4:e4482 pubmed publisher
    SMARCB1 is deleted in rhabdoid tumor, an aggressive paediatric malignancy affecting the kidney and CNS...
  73. Smith M, Cimica V, Chinni S, Challagulla K, Mani S, Kalpana G. Rhabdoid tumor growth is inhibited by flavopiridol. Clin Cancer Res. 2008;14:523-32 pubmed publisher
    ..Because cdk inhibitors have not been used for preclinical or clinical testing on rhabdoid tumors, we investigated the effect of flavopiridol, a pan-cdk inhibitor with promising clinical activity, on rhabdoid tumors...
  74. Gidwani P, Levy A, Goodrich J, Weidenheim K, Kolb E. Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2008;88:211-5 pubmed publisher
    ..This was achieved without the use of RT as a treatment modality...
  75. Witt T, Lo S, Timmerman R. Successful treatment of a skull base malignant rhabdoid tumor with surgery, chemotherapy and gamma Knife-based stereotactic radiosurgery in a young child. Stereotact Funct Neurosurg. 2007;85:310-3 pubmed
    ..We report a case of an 8-month-old boy with a right temporal bone rhabdoid tumor treated with surgery, chemotherapy and Gamma Knife-based stereotactic radiosurgery...
  76. Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T, et al. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer. 2010;116:5725-32 pubmed publisher
    ..They occur predominantly in young children, with an estimated prevalence of 1% to 2% among all pediatric CNS tumors. However, population-based data on the incidence of these tumors are not yet available...
  77. Birks D, Donson A, Patel P, Dunham C, Muscat A, Algar E, et al. High expression of BMP pathway genes distinguishes a subset of atypical teratoid/rhabdoid tumors associated with shorter survival. Neuro Oncol. 2011;13:1296-307 pubmed publisher
    ..Our study indicates that molecular subgroups exist in AT/RTs and that molecular profiling of these comparatively rare tumors may be of diagnostic, prognostic, and therapeutic value...
  78. Makuria A, Rushing E, McGrail K, Hartmann D, Azumi N, Ozdemirli M. Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. J Neurooncol. 2008;88:321-30 pubmed publisher
    ..Although the prognosis is dismal in pediatric population, long term survival is possible in adult AT/RT cases after surgery and adjuvant radiotherapy and chemotherapy...
  79. Izumi T, Oda Y, Hasegawa T, Nakanishi Y, Iwasaki H, Sonobe H, et al. Prognostic significance of dysadherin expression in epithelioid sarcoma and its diagnostic utility in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Mod Pathol. 2006;19:820-31 pubmed
    ..We studied the clinicopathological features in 72 cases of epithelioid sarcoma and in six cases of malignant rhabdoid tumor, and also assessed the immunohistochemical expression of dysadherin, E-cadherin and MIB-1 in epithelioid ..
  80. Winger D, Buyuk A, Bohrer S, Turi G, Scimeca P, Price A, et al. Radiology-Pathology Conference: rhabdoid tumor of the kidney. Clin Imaging. 2006;30:132-6 pubmed
    b>Rhabdoid tumor of the kidney (RTK) is a rare pediatric malignancy...
  81. Biegel J. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006;20:E11 pubmed
    ..The most common locations are the kidney and central nervous system (atypical teratoid/rhabdoid tumor [RT]), although RTs can also arise in most soft-tissue sites...
  82. Kao C, Huang P, Tsai P, Tsai M, Lo J, Lee Y, et al. Resveratrol-induced apoptosis and increased radiosensitivity in CD133-positive cells derived from atypical teratoid/rhabdoid tumor. Int J Radiat Oncol Biol Phys. 2009;74:219-28 pubmed publisher
    ..The aim of the present study was to investigate the possible role of resveratrol (RV) in radiosensitivity of CD133-positive/-negative cells derived from atypical teratoid/rhabdoid tumors (AT/RT-CD133(+/-))...