Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched

Cancer Research

Volumn 57, Issue 11, 1997, Pages 2085-2088

  Pietsch, Torsten ^a   Waha, Andreas ^a   Koch, Anke ^a   Kraus, Jürgen ^a   Albrecht, Steffen ^b   Tonn, Jörg ^c   Sörensen, Nils ^a,c   Berthold, Frank ^d   Henk, Bettina ^a   Schmandt, Nicole ^a,c   Wolf, Helmut K ^a   Von Deimling, Andreas ^a   Wainwright, Brandon ^e   Chenevix Trench, Georgia ^f   Wiestler, Otmar D ^a   Wicking, Carol ^e  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASAL CELL CARCINOMA; DROSOPHILA; EXON; GENE MUTATION; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; HUMAN CELL; MEDULLOBLASTOMA; MULTIGENE FAMILY; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ANIMALS; CEREBELLAR NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; INFANT; MALE; MEDULLOBLASTOMA; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TUMOR CELLS, CULTURED; VARIATION (GENETICS);

EID: 0030913169     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Stevens, M. C. G., Cameron, A. H., Muir, K. R., Parkes, S. E., Reid, H., and Whitwell, H. Descriptive epidemiology of primary central nervous system tumours in children: a population-based study. Clin. Oncol., 3: 323-329, 1991.
2. Evans, D. G., Farndon, P. A., Burnell, L. D., Gattamaneni, H. R., and Birch, J. M. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br. J. Cancer, 64: 959-961, 1991.
3. Gorlin, R. J. Nevoid basal cell carcinoma syndrome. Dermatol. Clin., 13: 113-125, 1995.
4. Gorlin, R. J. Nevoid basal-cell carcinoma syndrome. Med. Balt., 66: 98-113, 1987.
5. Gailini, M. R., Bale, S. J., Leffell, D. J., DiGiovanna, J. J., Peck, G. L., Poliak, S., Drum, M. A., Pastakia, B., McBride, O. W., Kase, R., Greene, M., Mulvihill, J. J., and Bale, A. E. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell, 69: 111-117, 1992.
6. Nüsslein-Volhard, C., and Wieschaus, E. Mutations affecting segment number and polarity in Drosophila. Nature (Lond.), 287: 795-801, 1980.
7. Johnson, R. L., Rothman, A. L., Xie, J., Goodrich, L. V., Bare, J. W., Bonifas, J. M., Quinn, A. G., Myers, R. M., Cox, D. R., Epstein, E. H., and Scott, M. P. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science (Washington DC), 272: 1668-1671, 1996.
8. Hahn, H., Wicking, C., Zaphiropoulos, P. G., Gailini, M. R., Shanley, S., Chidambaram, A., Vorechovsky, I., Holmberg, E., Unden, A. B., Gillies, S., Negus, K., Smyth, I., Pressman, C., Leffell, D. J., Gerrard, B., Goldstein, A. M., Dean, M., Toftgard, R., Chenevix-Trench, G., Wainwright, B., and Bale, A. E. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell, 85: 841-851, 1996.
9. Stone, D. M., Hynes, M., Armanini, M., Swanson, T. A., Gu, Q., Johnson, R. L., Scott, M. P., Pennica, D., Goddard, A., Phillips, H., Noll, M., Hooper, J. E., de Sauvage, F., and Rosenthal, A. The tumor suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature (Lond.), 384: 129-134, 1996.
10. Marigo, V., Davey, R. A., Zuo, Y., Cunningham, J. M., and Tabin, C. J. Biochemical evidence that Patched is the Hedgehog receptor. Nature (Lond.), 384: 176-179, 1996.
11. Unden, A. B., Holmberg, E., Lundh-Rozell, B., Stahle-Bäckdahl, M., Zaphiropoulos, P. G., Toftgard, R., and Vorechovsky, I. Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation. Cancer Res., 56: 4562-4565, 1996.
12. Chidambaram, A., Goldstein, A. M., Gailini, M. R., Gerrard, B., Bale, S. J., DiGiovanna, J. J., Bale, A. E., and Dean, M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res., 56: 4599-4601, 1996.
13. Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Dean, M., Wainwright, B., and Chenevix-Trench, G. Most mutations in the nevoid basal cell carcinoma syndrome lead to premature termination of the PATCHED protein and no genotype-phenotype correlations are evident. Am. J. Hum. Genet., 60: 21-26, 1997.
14. Gailini, M. R., Stahle-Bäckdahl, M., Leffell, D. J., Glynn, M., Zaphiropoulos, P. G., Pressman, C., Unden, A. B., Dean, M., Brash, D. E., Bale, A. E., and Toftgard, R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat. Genet., 14: 78-81, 1996.
15. Albrecht, S., von Deimling, A., Pietsch, T., Giangaspero, F., Brandner, S., Kleihues, P., and Wiestler, O. D. Microsatellite analysis of loss of heterozygosity on chromosomes 9q, 11p and 17p in medulloblastomas. Neuropathol. Appl. Neurobiol., 20: 74-81, 1994.
16. Schofield, D., West, D. C., Anthony, D. C., Marshal, R., and Sklar, J. Correlation of loss of heterozygosity at chromosome 9q with histological subtype in medulloblastoma. Am. J. Pathol., 146: 472-480, 1995.
17. Pietsch, T., Scharmann, T., Fonatsch, C., Schmidt, D., Öckler, R., Freihoff, D., Albrecht, S., Wiestler, O. D., Zeltzer, P., and Riehm, H. Characterization of five new cell lines derived from human primitive neuroectodermal tumors of the central nervous system. Cancer Res., 54: 3278-3287, 1994.
18. Kleihues, P., Burger, P. C., and Scheithauer, B. W. Histological typing of tumours of the central nervous system. Berlin: Springer Verlag, 1993.
19. Kraus, J. A., Koch, A., Albrecht, S., von Deimling, A., Wiestler, O. D., and Pietsch, T. Loss of heterozygosity at the locus F13B on chromosome 1q in human medulloblastoma. Int. J. Cancer, 67: 11-15, 1996.
20. Koch, A., Tonn, J., Kraus, J. A., Sörensen, N., Albrecht, S., Wiestler, O. D., and Pietsch, T. Molecular analysis of the lissencephaly gene 1 (LIS-I) in human medulloblastomas. Neuropathol. Appl. Neurobiol., 22: 233-242, 1996.
21. Horton, R. M., and Pease, L. R. Recombination and mutagenesis of DNA sequences using PCR. In: M. J. McPherson (ed.), Directed Mutagenesis - A Practical Approach, pp. 217-247. Oxford: IRL Press, 1991.
22. Weinberg, R. A. The molecular basis of oncogenes and tumor suppressor genes. Ann. NY Acad. Sci., 758: 331-338, 1995.
23. Hahn, H., Christiansen, J., Wicking, C., Zaphiropoulos, P. G., Chidambaram, A., Gerrard, B., Vorechovsky, I., Bale, A. E., Toftgard, R., Dean, M., and Wainwright, B. A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J. Biol. Chem., 271: 12125-12128, 1996.
24. Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Seherer, S. W., Tsui, L-C., and Muenke, M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat. Genet., 14: 357-360, 1996.
25. Belloni, E., Muenke, M., Roessler, E., Traverso, G., Siegel-Bartelt, J., Frumkin, A., Mitchell, H. F., Donis-Keller, H., Helms, C., Hing, A. V., Heng, H. H. Q., Koop, B., Martindale, D., Rommens, J. M., Tsui, L-C., and Scherer, S. W. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat. Genet., 14: 353-356, 1996.
26. Rorke, L. B. The cerebellar medulloblastoma and its relationship to primitive neuroectodermal tumors. J. Neuropathol. Exp. Neurol., 42: 1-15, 1983.
27. Rubinstein, L. J. The cerebellar medulloblastoma: its origin, differentiation, morphological variants and biological behavior. In: P. J. Vincken and G. W. Bruyn (eds.), Tumors of the Brain and Skull, Part III, pp. 167-194. New York: Elsevier, 1977.
28. Yokota, N., Aruga, J., Takai, S., Yamada, K., Hamazaki, M., Iwase, T., Sugimura, H., and Mikoshiba, K. Predominant expression of human zic in cerebellar granule cell lineage and medulloblastoma. Cancer Res., 56: 377-383, 1996.
29. Kozmik, Z., Sure, U., Ruedi, D., Busslinger, M., and Aguzzi, A. Deregulated expression of PAX-5 in medulloblastoma. Proc. Natl. Acad. Sci. USA, 92: 5709-5713, 1995.
30. Dean, M. Polarity, proliferation and the hedgehog pathway. Nat. Genet., 14: 245-247, 1996.