Characterisation of retinoblastomas without RB1 mutations: Genomic, gene expression, and clinical studies

The Lancet Oncology

Volumn 14, Issue 4, 2013, Pages 327-334

  Rushlow, Diane E ^a   Mol, Berber M ^a   Kennett, Jennifer Y ⁱ   Yee, Stephanie ^b,e   Pajovic, Sanja ^b   Thériault, Brigitte L ^b   Prigoda Lee, Nadia L ^a   Spencer, Clarellen ^b   Dimaras, Helen ^d   Corson, Timothy W ^j   Pang, Renée ^c   Massey, Christine ^b   Godbout, Roseline ^k   Jiang, Zhe ^g   Zacksenhaus, Eldad ^f,g   Paton, Katherine ⁱ   Moll, Annette C ^h   Houdayer, Claude ^l   Raizis, Anthony ^m   Halliday, William ^d,e   Lam, Wan L ⁱ   Boutros, Paul C ^c   Lohmann, Dietmar ⁿ   Dorsman, Josephine C ^h   Gallie, Brenda L ^a,b,e,f   more..

^a TORONTO WESTERN HOSPITAL   (Canada)

^b PRINCESS MARGARET HOSPITAL   (Canada)

^c ONTARIO INSTITUTE FOR CANCER RESEARCH   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g UNIVERSITY HEALTH NETWORK   (Canada)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF ALBERTA   (Canada)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m CANTERBURY HEALTH LABORATORIES   (New Zealand)

ⁿ UNIVERSITY HOSPITAL ESSEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MYC PROTEIN; RETINOBLASTOMA PROTEIN;

ALLELE; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE AMPLIFICATION; GENE DOSAGE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYCN GENE; NUCLEOTIDE SEQUENCE; ONCOGENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RB1 GENE; RETINOBLASTOMA; TUMOR SUPPRESSOR GENE;

ALLELES; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; FEMALE; GENE AMPLIFICATION; GENE DOSAGE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOME, HUMAN; HUMANS; INFANT; MUTATION; NUCLEAR PROTEINS; ONCOGENE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 84875810807     PISSN: 14702045     EISSN: 14745488     Source Type: Journal    
DOI: 10.1016/S1470-2045(13)70045-7     Document Type: Article

References (31)

1. Knudson AG Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68:820-823.
2. Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986, 323:643-646.
3. Cavenee WK, Hansen MF, Nordenskjold M, et al. Genetic origin of mutations predisposing to retinoblastoma. Science 1985, 228:501-503.
4. Lohmann DR, Gallie BL Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet 2004, 129C:23-28.
5. Rushlow D, Piovesan B, Zhang K, et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat 2009, 30:842-851.
6. Lohmann D, Gallie B, Dommering C, Gauthier-Villars M Clinical utility gene card for: retinoblastoma. Eur J Hum Genet 2010, published online Dec 8. 10.1038/ejhg.2010.200.
7. Houdayer C, Gauthier-Villars M, Lauge A, et al. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mutat 2004, 23:193-202.
8. Dimaras H, Khetan V, Halliday W, et al. Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet 2008, 17:1363-1372.
9. Lowry R For a 2×2 contingency table (accessed Feb 11, 2013). http://www.vassarstats.net/tab2x2.html.
10. Corson TW, Gallie BL One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer 2007, 46:617-634.
11. Ishkanian AS, Malloff CA, Watson SK, et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004, 36:299-303.
12. Watson SK, deLeeuw RJ, Horsman DE, Squire JA, Lam WL Cytogenetically balanced translocations are associated with focal copy number alterations. Hum Genet 2007, 120:795-805.
13. Myllykangas S, Bohling T, Knuutila S Specificity, selection and significance of gene amplifications in cancer. Semin Cancer Biol 2007, 17:42-55.
14. O'Neill S, Ekstrom L, Lastowska M, et al. MYCN amplification and 17q in neuroblastoma: evidence for structural association. Genes Chromosomes Cancer 2001, 30:87-90.
15. Mosse YP, Diskin SJ, Wasserman N, et al. Neuroblastomas have distinct genomic DNA profiles that predict clinical phenotype and regional gene expression. Genes Chromosomes Cancer 2007, 46:936-949.
16. Chen D, Gallie BL, Squire JA Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization. Cancer Genet Cytogenet 2001, 129:57-63.
17. Sampieri K, Amenduni M, Papa FT, et al. Array comparative genomic hybridization in retinoma and retinoblastoma tissues. Cancer Sci 2009, 100:465-471.
18. Spencer C, Pajovic S, Devlin H, Dinh QD, Corson TW, Gallie BL Distinct patterns of expression of the RB gene family in mouse and human retina. Gene Expr Patterns 2005, 5:687-694.
19. Templeton DJ, Park SH, Lanier L, Weinberg RA Nonfunctional mutants of the retinoblastoma protein are characterized by defects in phosphorylation, viral oncoprotein association, and nuclear tethering. Proc Natl Acad Sci USA 1991, 88:3033-3037.
20. Murakami A, Yajima T, Sakuma H, McLaren MJ, Inana G X-arrestin: a new retinal arrestin mapping to the X chromosome. FEBS Lett 1993, 334:203-209.
21. Terry J, Calicchio ML, Rodriguez-Galindo C, Perez-Atayde AR Immunohistochemical expression of CRX in extracranial malignant small round cell tumors. Am J Surg Pathol 2012, 36:1165-1169.
22. Tornoczky T, Semjen D, Shimada H, Ambros IM Pathology of peripheral neuroblastic tumors: significance of prominent nucleoli in undifferentiated/poorly differentiated neuroblastoma. Pathol Oncol Res 2007, 13:269-275.
23. Flexner S A peculiar glioma (neuroepithelioma?) of the retina. Johns Hopkins Hosp Bull 1891, 2:115.
24. Dimaras H, Kimani K, Dimba EAO, et al. Retinoblastoma. Lancet 2012, 379:1436-1446.
25. Chantada GL, Casco F, Fandino AC, et al. Outcome of patients with retinoblastoma and postlaminar optic nerve invasion. Ophthalmology 2007, 114:2083-2089.
26. Lillington DM, Goff LK, Kingston JE, et al. High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours. Br J Cancer 2002, 87:779-782.
27. Zhang J, Benavente CA, McEvoy J, et al. A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 2012, 481:329-334.
28. Manning AL, Longworth MS, Dyson NJ Loss of pRB causes centromere dysfunction and chromosomal instability. Genes Dev 2010, 24:1364-1376.
29. Kobayashi M, Takezawa S, Hara K, et al. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci USA 1999, 96:4814-4819.
30. Chen D, Pacal M, Wenzel P, Knoepfler PS, Leone G, Bremner R Division and apoptosis of E2f-deficient retinal progenitors. Nature 2009, 462:925-929.
31. Hook KE, Garza SJ, Lira ME, et al. An integrated genomic approach to identify predictive biomarkers of response to the aurora kinase inhibitor PF-03814735. Mol Cancer Ther 2012, 11:710-719.