Extracranial rhabdoid tumours: What we have learned so far and future directions

The Lancet Oncology

Volumn 14, Issue 8, 2013, Pages

  Brennan, Bernadette ^a   Stiller, Charles ^b   Bourdeaut, Franck ^c  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b Childhood Cancer Research Group   (United Kingdom)

^c INSTITUT CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AURORA A KINASE; CYCLOPHOSPHAMIDE; DOXORUBICIN; ETOPOSIDE; FLAVOPIRIDOL; IFOSFAMIDE; PROTEIN P16; VALPROIC ACID; VINCRISTINE; VORINOSTAT;

CANCER CHEMOTHERAPY; CANCER GENETICS; CANCER RADIOTHERAPY; CANCER RISK; CANCER STAGING; CARCINOGENESIS; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; EXTRACRANIAL RHABDOID TUMOR; G1 PHASE CELL CYCLE CHECKPOINT; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC STABILITY; HOMOZYGOTE; HUMAN; INCIDENCE; MONOSOMY; OVERALL SURVIVAL; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROMOTER REGION; RADIATION DOSE; RENAL RHABDOID TUMOR; REVIEW; RHABDOID TUMOR; S PHASE CELL CYCLE CHECKPOINT; SMARCB1 GENE; SURVIVAL RATE; SURVIVAL TIME; TUMOR LOCALIZATION; TUMOR SUPPRESSOR GENE;

ADOLESCENT; AGE FACTORS; ANTINEOPLASTIC AGENTS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; KIDNEY NEOPLASMS; MALE; MUTATION; PHENOTYPE; PROGNOSIS; RADIOTHERAPY; RHABDOID TUMOR; TIME FACTORS; TRANSCRIPTION FACTORS;

EID: 84879715977     PISSN: 14702045     EISSN: 14745488     Source Type: Journal    
DOI: 10.1016/S1470-2045(13)70088-3     Document Type: Review

References (68)

1. Beckwith J, Palmer N Histopathology and prognosis of Wilms' tumour. Results of the first National Wilms' Tumor Study. Cancer 1978, 41:1937-1948.
2. Haas JE, Palmer NF, Weinberg AG, Beckwith JB Ultrastructure of malignant rhabdoid tumor of the kidney: a distinctive renal tumor of children. Hum Pathol 1981, 12:646-657.
3. Weeks DA, Beckwith JB, Meirau GW, Luckey DW Rhabdoid tumor of kidney: a report of 111 cases from the National Wilms' Tumor Study Pathology Center. Am J Surg Pathol 1989, 13:439-458.
4. Childhood cancer in Britain: incidence, survival, mortality 2007, Oxford University Press, Oxford. C. Stiller (Ed.).
5. Pastore G, Znaor A, Spreafico F, Graf N, Pritchard-Jones K, Steliarova-Foucher E Malignant renal tumour incidence and survival in European children (1978-1997): report from the Automated Childhood Cancer Information System project. Eur J Cancer 2006, 42:2103-2114.
6. Sultan I, Casanova M, Al-Jumaily U, Meazza C, Rodriguez-Galindo C, Ferrari A Soft tissue sarcomas in the first year of life. Eur J Cancer 2010, 46:2449-2456.
7. Ferrari A, Sultan I, Huang TT, et al. Soft tissue sarcoma across the age spectrum: a population-based study from the surveillance epidemiology and end results database. Pediatr Blood Cancer 2011, 57:943-949.
8. Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 2004, 28:644-650.
9. Hollmann TJ, Hornick JL INI1-Deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 2011, 35:47-63.
10. Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B Epidemiology of rhabdoid tumors of early childhood. Pediatr Blood Cancer 2013, 60:77-81.
11. Biegel JA, Rorke LB, Emanuel BS Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med 1989, 321:906.
12. Versteege I, Sévenet N, Lange J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998, 394:203-206.
13. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Gogelgren B Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 1999, 59:74-79.
14. Sevenet N, Lellouch-Tubiana A, Schofield D, et al. Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum Mol Genet 1999, 8:2359-2368.
15. Jackson EM, Sievert AJ, Gai X, 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, 15:1923-1930.
16. Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 2004, 28:1485-1491.
17. Bourdeaut F, Fréneaux P, Thuille B, et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol 2007, 211:323-330.
18. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 2011, 56:7-15.
19. Bourdeaut F, Lequin D, Brugières L, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 2011, 17:31-38.
20. Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet 2000, 66:1403-1406.
21. Jackson EM, Shaikh TH, Gururangan S High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet 2007, 122:117-127.
22. Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Hum Mol Genet 2012, 21:5239-5245.
23. Schneppenheim R, Frühwald MC, Gesk S, et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 2010, 86:279-284.
24. Hasselblatt M, Gesk S, Oyen 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, 35:933-935.
25. McKenna ES, Sansam CG, Cho YJ, et al. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol 2008, 28:6223-6233.
26. Hasselblatt M, Isken S, Linge A, 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, 52:185-190.
27. Kieran MW, Roberts CW, Chi SN, et al. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer 2012, 59:1155-1157.
28. Lee RS, Stewart C, Carter SL, et al. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest 2012, 122:2983-2988.
29. Roberts CW, Leroux MM, Fleming MD, Orkin SH Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell 2002, 2:415-425.
30. Roberts CW, Galusha SA, McMenamin ME, Fletcher CD, Orkin SH Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci USA 2000, 97:13796-13800.
31. Gadd S, Sredni ST, Huang CC, Perlman EJ Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets. Lab Invest 2010, 90:724-738. Renal Tumor Committee of the Children's Oncology Group.
32. Venneti S, Le P, Martinez D, et al. Malignant rhabdoid tumors express stem cell factors, which relate to the expression of EZH2 and Id proteins. Am J Surg Pathol 2011, 35:1463-1472.
33. Albanese P, Belin MF, Delattre O The tumour suppressor hSNF5/INI1 controls the differentiation potential of malignant rhabdoid cells. Eur J Cancer 2006, 42:2326-2334.
34. 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, 27:2035-2044.
35. Kia SK, Gorski MM, Giannakopoulos S, Verrijzer CP SWI/SNF mediates polycomb eviction and epigenetic reprogramming of the INK4b-ARF-INK4a locus. Mol Cell Biol 2008, 28:3457-3464.
36. Wilson BG, Wang X, Shen X, et al. Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Cancer Cell 2010, 18:316-328.
37. Versteege I, Medjkane S, Rouillard D, Delattre O A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle. Oncogene 2002, 21:6403-6412.
38. Betz BL, Strobeck MW, Reisman DN, Knudsen ES, Weissman BE Re-expression of hSNF5/INI1/BAF47 in pediatric tumor cells leads to G1 arrest associated with induction of p16ink4a and activation of RB. Oncogene 2002, 21:5193-5203.
39. Tsikitis M, Zhang Z, Edelman W, Zagzag D, Kalpana GV Genetic ablation of cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. Proc Natl Acad Sci USA 2005, 102:12129-12134.
40. Jagani Z, Mora-Blanco EL, Sansam CG, et al. Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway. Nat Med 2010, 16:1429-1433.
41. Lee S, Cimica V, Ramachandra N, Zagzag D, Kalpana GV Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival. Cancer Res 2011, 71:3225-3235.
42. Caramel J, Quignon F, Delattre O RhoA-dependent regulation of cell migration by the tumor suppressor hSNF5/INI1. Cancer Res 2008, 68:6154-6161.
43. McKenna ES, Tamayo P, Cho YJ, et al. Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors. Cell Cycle 2012, 11:1956-1965.
44. Frierson HF, Mills SE, Innes DJ Malignant rhabdoid tumor of the pelvis. Cancer 1985, 55:1963-1967.
45. Sotelo-Avila C, Gonzalez-Crussi F, de Mello D, et al. Renal and extrarenal rhaboid tumors in children: a clinicopathologic study of 14 patients. Semin Diagn Pathol 1986, 3:151-163.
46. Tsuneyohsi M, Daimaru Y, Hashimoto H, Enjoji M Malignant soft tissue neoplasms with the histologic features of renal rhabdoid tumors: an ultrastructural and immunohistochemical study. Hum Pathol 1985, 16:1235-1241.
47. Wick MR, Ritter JH, Dehner LP Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Semin Diagn Pathol 1995, 12:233-248.
48. Vujanić GM, Sandstedt B, Harms D, Boccon-Gibod L Rhabdoid tumour of the kidney: a clinicophathological study of 22 patients from the International Society of Paediatric Oncology (SIOP) nephroblastoma file. Histopathology 1996, 28:333-340.
49. Tomlinson GE, Breslow NE, Dome J, et al. Rhabdoid tumor of the kidney in the National Wilms' Tumor Study: age at diagnosis as a prognostic factor. J Clin Oncol 2005, 23:7641-7645.
50. Sultan I, Qaddoumi I, Rodríguez-Galindo C, Al 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.
51. Bourdeaut F, Fréneaux P, Thuille B, et al. Extra-renal non-cerebral rhabdoid tumours. Pediatr Blood Cancer 2008, 51:363-368.
52. Trobaugh-Lotrario AD, Finegold MJ, Feusner JH Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. Pediatr Blood Cancer 2011, 57:423-428.
53. Waldron PE, Rodgers BM, Kelly MD, Wormer RB Successful treatment of a patient with stage IV rhabdoid tumor of the kidney: case report and review. J Pediatr Hematol Oncol 1999, 21:53-57.
54. Wagner L, Hill DA, Fuller C, et al. Treatment of metastatic rhabdoid tumor of the kidney. J Pediatr Hematol Oncol 2002, 24:385-388.
55. Gururangan S, Bowman LC, Parham DM, et al. Primary extracranial rhabdoid tumors. Clinicophatologic features and response to ifosfamide. Cancer 1993, 71:2653-2659.
56. Koga Y, Matsuzaki A, Suminoe A, et al. Long-term survival after autologous peripheral blood stem cell transplantation in two patients with malignant rhabdoid tumor of the kidney. Pediatr Blood Cancer 2009, 52:888-890.
57. Palmer NF, Suttow W Clinical aspects of the rhabdoid tumor of the kidney: a report of the National Wilms' Tumor Study Group. Med Pediatr Oncol 1983, 11:242-245.
58. Alacon-Vargas D, Zhang Z, Agarwal B, Challagulla K, Mani S, Kalpana GV Targeting cyclin D1, a downstream effector of INI1/hSNF5, in rhabdoid tumors. Oncogene 2006, 25:722-734.
59. Smith ME, Cimica V, Chinni S, Challagulla K, Mani S, Kalpana GV Rhabdoid tumor growth is inhibited by flavopiridol. Clin Cancer Res 2008, 14:523-532.
60. Smith ME, Cimica V, Chinni S, et al. Therapeutically targeting cyclin D1 in primary tumors arising from loss of InI1. Proc Natl Acad Sci USA 2011, 108:319-324.
61. Zhang ZK, Davies KP, Allen J, et al. Cell cycle arrest and repression of cyclin D1 transcription by INI1/hSNF5. Mol Cell Biol 2002, 22:5975-5988.
62. Graham C, Tucker C, Creech J, et al. Evaluation of the antitumor efficacy, pharmacokinetics, and pharmacodynamics of the histone deacetylase inhibitor depsipeptide in childhood cancer models in vivo. Clin Cancer Res 2006, 12:223-234.
63. Watanabe M, Adachi S, Matsubara H, 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.
64. Stathis A, Hotte SJ, Chen EX, et al. Phase I study of decitabine in combination with vorinostat in patients with advanced solid tumors and non-Hodgkin's lymphomas. Clin Cancer Res 2011, 17:1582-1590.
65. Fouladi M, Park JR, Stewart CF, et al. Pediatric phase I trial and pharmacokinetic study of vorinostat: a Children's Oncology Group phase I consortium report. J Clin Oncol 2010, 28:3623-3629.
66. Koos B, Jeibmann A, Lünenbürger H, et al. The tyrosine kinase c-Abl promotes proliferation and is expressed in atypical teratoid and malignant rhabdoid tumors. Cancer 2010, 116:5075-5081.
67. Lünenbürger H, Lanvers-Kaminsky C, Lechtape B, Frühwald MC Systematic analysis of the antiproliferative effects of novel and standard anticancer agents in rhabdoid tumor cell lines. Anticancer Drugs 2010, 21:514-522.
68. Venkataraman S, Alimova I, Tello T, et al. Targeting aurora kinase A enhances radiation sensitivity of atypical teratoid rhabdoid tumor cells. Neurooncol 2012, 107:517-526.