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Chromosome Abnormalities in Pediatric Solid Tumors

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Consistent chromosome abnormalities have been described in many pediatric solid tumors. These findings led to direct molecular investigation and a better understanding of tumor pathogenesis. Clinical correlation often produced useful prognostic information (Karnes et al. 1992).

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References

  • Aerts, I., Lumbroso-Le Rouic, L., Gauthier-Villars, M., et al. (2006). Retinoblastoma. Orphanet Journal of Rare Diseases, 1, 31–41.

    Article  PubMed  PubMed Central  Google Scholar 

  • Albertson, D. G., Collins, C., McCormick, F., et al. (2003). Chromosome aberrations in solid tumors. Nature Genetics, 34, 369–376.

    Article  CAS  PubMed  Google Scholar 

  • Barcus, M. E., Ferreira-Gonzalez, A., Buller, A. M., et al. (2000). Genetic changes in solid tumors. Seminars in Surgical Oncology, 18, 358–370.

    Article  CAS  PubMed  Google Scholar 

  • Barros, J. E. X. S., Soares-Ventura, D. M., Santos, N., et al. (2012). New cytogenetic aberrations found in a case of aggressive retinoblastoma. Genetics and Molecular Research, 11, 1666–1670.

    Article  CAS  PubMed  Google Scholar 

  • Bennicelli, J. L., & Barr, F. G. (1999). Genetics and the biologic basis of sarcomas. Current Opinion in Oncology, 11, 267–274.

    Article  CAS  PubMed  Google Scholar 

  • Betts, D. R., Cohen, N., Leibundgut, K. E., et al. (2005). Characterization of karyotypic events and evolution in neuroblastoma. Pediatric Blood Cancer, 44, 147–157.

    Article  PubMed  Google Scholar 

  • Brodeur, G. M., Maris, J. M., Yamashiro, D. J., et al. (1997). Biology and genetics of human neuroblastomas. Journal of Pediatric Hematology/Oncology, 19, 93–101.

    Article  CAS  PubMed  Google Scholar 

  • Carlson, E. A., & Desnick, R. J. (1979). Mutational mosaicism and genetic counseling in retinoblastoma. American Journal of Medical Genetics, 4, 365–381.

    Article  CAS  PubMed  Google Scholar 

  • Castel, V., Grau, E., Noguera, R., et al. (2007). Molecular biology of neuroblastoma. Clinical and Translational Oncology, 9, 478–483.

    Article  CAS  PubMed  Google Scholar 

  • Chen, X., Pappo, A., & Dyer, M. (2015). Pediatric solid tumor genomics and developmental pliancy. Oncogene, 34, 5207–5215.

    Google Scholar 

  • Chintagumpala, M., Chevez-Barrios, P., Paysse, E. A., et al. (2007). Retinoblastoma: Review of current management. The Oncologist, 12, 1237–1246.

    Article  PubMed  Google Scholar 

  • Cooley, L. D., Mascarello, J. T., Hirsch, B., et al. (2009). Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities. Genetics in Medicine, 11, 890–897.

    Article  PubMed  Google Scholar 

  • Cooper, C. S. (1996). Translocations in solid tumours. Current Opinion in Genetics and Development, 6, 71–75.

    Article  CAS  PubMed  Google Scholar 

  • Coppes, M. J., & Egeler, R. M. (1999). Genetics of Wilms tumor. Seminars in Urologic Oncology, 17, 2–10.

    CAS  PubMed  Google Scholar 

  • Davidoff, A. M., & Hill, D. A. (2001). Molecular genetic aspects of solid tumors in childhood. Seminars in Pediatric Surgery, 10, 106–118.

    Article  CAS  PubMed  Google Scholar 

  • Devesa, S. S. (1975). The incidence of retinoblastoma. American Journal of Ophthalmology, 80, 263–265.

    Article  CAS  PubMed  Google Scholar 

  • Dougherty, M. J., Tooke, L. S., Sullivan, L. M., et al. (2012). Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Genetics, 205, 42–54.

    Article  CAS  PubMed  Google Scholar 

  • Draper, G. J., Sanders, B. M., Brownbill, P. A., et al. (1992). Patterns of risk of hereditary retinoblastoma and applications to genetic counseling. British Journal of Cancer, 66, 211–219.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Esparza, S. D. (2012). Childhood cancer, genetics. eMedicine from WebMD. Updated March 5, 2012. Available at: http://emedicine.medscape.com/article/989983-overview

  • Horsthemke, B. (1992). Genetics and cytogenetics of retinoblastoma. Cancer Genetics and Cytogenetics, 63, 1–7.

    Article  CAS  PubMed  Google Scholar 

  • Ä°nandıklıoÄŸlu, N., Yılmaz, S., Demirhan, O., et al. (2012). Chromosome imbalances and alterations of AURKA and MYCN genes in children with neuroblastoma. Asian Pacific Journal of Cancer Prevention, 13, 5391–5397.

    Article  PubMed  Google Scholar 

  • Isidro, M. A., Roque, M. R., Aaberg, T. M. J., et al. (2011). Retinoblastoma. Medscape Reference. Updated 29 April 2011. Available at: http://emedicine.medscape.com/article/1222849-overview

  • Karnes, P. S., Tran, T. N., Cui, M. Y., et al. (1992). Cytogenetic analysis of 39 pediatric central nervous system tumors. Cancer Genetics and Cytogenetics, 59, 12–19.

    Article  CAS  PubMed  Google Scholar 

  • Kesrouani, A., Duchatel, F., Seilanian, M., et al. (1999). Prenatal diagnosis of adrenal neuroblastoma by ultrasound: A report of two cases and review of the literature. Ultrasound in Obstetrics & Gynecology, 13, 446–449.

    Article  CAS  Google Scholar 

  • Knudson, A. G. (1971). Mutation and cancer: Statistical study of retinoblastoma. Proceedings of National Academy Science USA, 68, 82–823.

    Article  Google Scholar 

  • Lee, K. L., Ma, J. F., & Shortliffe, L. D. (2003). Neuroblastoma: Management, recurrence, and follow-up. Urologic Clinics of North America, 30, 881. http://emedicine.medscape.com/article/988284-overview

  • Lohmann, D. R., & Gallie, B. L. (2013). Retinoblastoma. GeneReviews. Updated March 28, 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1452/

  • Maris, J. M., & Matthay, K. K. (1999). Molecular biology of neuroblastoma. Journal of Clinical Oncology, 17, 2264–2279.

    Article  CAS  PubMed  Google Scholar 

  • Mertens, F., Mandahl, N., Mitelman, F., et al. (1994). Cytogenetic analysis in the examination of solid tumors in children. Pediatric Hematology and Oncology, 11, 361–377.

    Article  CAS  PubMed  Google Scholar 

  • Paxton, C. N., Rowe, L. R., & South, S. T. (2015). Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma. Molecular Cytogenetics, 8, 60–66.

    Google Scholar 

  • Paulino, A. C. (2014). Wilms tumor. eMedicine from WebMD. Retrieved November 8, 2014. Available at: http://emedicine.medscape.com/article/989398-overview

  • Sandberg, A. A. (1988). Chromosomal lesions and solid tumors. Hospital Practice October, 15, 93–106.

    Article  Google Scholar 

  • Sandberg, A. A., & Turc-Carel, C. (1987). The cytogenetics of solid tumors. Relation to diagnosis, classification and pathology. Cancer, 59, 387–395.

    Article  CAS  PubMed  Google Scholar 

  • Schwab, M., Westermann, F., Hero, B., et al. (2003). Neuroblastoma: Biology and molecular and chromosomal pathology. The Lancet Oncology, 4, 472–480.

    Article  CAS  PubMed  Google Scholar 

  • Sippel, K. C., Faioli, R. E., Smith, G. D., et al. (1998). Frequency of somatic and germ-line mosaicism in retinoblastoma: Implications for genetic counseling. American Journal of Human Genetics, 62, 610–619.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tien, J. D. Y., Lau, L. C., Tien, S. L., et al. (2014). The clinical utility of conventional karyotyping in the detection of cytogenetic abnormalities in soft tissue tumours: An Asian institutional experience. Hong Kong Medical Journal, 20, 393–400.

    PubMed  Google Scholar 

  • Vadeyar, S., Ramsay, M., James, D., et al. (2000). Prenatal diagnosis of congenital Wilms’ tumor (nephroblastoma) presenting as fetal hydrops. Ultrasound in Obstetrics & Gynecology, 16, 80–83.

    Article  CAS  Google Scholar 

  • Varella-Garcia, M. (2003). Molecular cytogenetics in solid tumors: Laboratorial tool for diagnosis, prognosis, and therapy. The Oncologist, 8, 45–58.

    Article  CAS  PubMed  Google Scholar 

  • Vogel, F. (1979). Genetics of retinoblastoma. Human Genetics, 1, 1–54.

    Article  Google Scholar 

  • Zin, R., Pham, K., Ashleigh, M., et al. (2012). SNP-based arrays complement classic cytogenetics in the detection of chromosomal aberrations in Wilms’ tumor. Cancer Genetics, 205, 80–93.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Chromosome Abnormalities in Pediatric Solid Tumors. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_42

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_42

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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