Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

Esthesioneuroblastoma in a boy with 47, XYY karyotype

  • Jo, Hee Cheol (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Lee, Seong Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Jung, Hyun Joo (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Park, Jun Eun (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine)
  • Received : 2015.07.20
  • Accepted : 2015.10.12
  • Published : 2016.11.15
Download PDF
⟨ Previous Next ⟩

Abstract

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

Keywords

References

  1. Hecht F. Risks of hematologic malignancy with constitutional chromosome abnormalities. Cancer Genet Cytogenet 1987;24:375-7. https://doi.org/10.1016/0165-4608(87)90123-3
  2. Harnden DG, Maclean N, Langlands AO. Carcinoma of the breast and Klinefelter's syndrome. J Med Genet 1971;8:460-1. https://doi.org/10.1136/jmg.8.4.460
  3. Hasle H, Jacobsen BB, Asschenfeldt P, Andersen K. Mediastinal germ cell tumour associated with Klinefelter syndrome: a report of case and review of the literature. Eur J Pediatr 1992;151:735-9. https://doi.org/10.1007/BF01959079
  4. Miller RW. Neoplasia and downs syndrome. Ann NY Acad Sci 1970;171:637-44. https://doi.org/10.1111/j.1749-6632.1970.tb39373.x
  5. Xavier AC, Ge Y, Taub JW. Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology. J Mol Diagn 2009;11:371-80. https://doi.org/10.2353/jmoldx.2009.080132
  6. Gravholt CH. Sex-chromosome abnormalities. In: Pyeritz RE, Rimoin DL, Korf BR, Emery AE, editors. Emery and Rimoin's principles and practice of medical genetics. 6th ed. San Diego: Elsevier Academic Press, 2013:1038-57.
  7. Welborn J. Constitutional chromosome aberrations as pathogenetic events in hematologic malignancies. Cancer Genet Cytogenet 2004;149:137-53. https://doi.org/10.1016/S0165-4608(03)00301-7
  8. Benitez J, Valcarcel E, Ramos C, Ayuso C, Cascos AS. Frequency of constitutional chromosome alterations in patients with hematologic neoplasias. Cancer Genet Cytogenet 1987;24:345-54. https://doi.org/10.1016/0165-4608(87)90117-8
  9. Krossnes BK, Wester K, Moen G, Mork SJ. Multifocal dysembryoplastic neuroepithelial tumour in a male with the XYY syndrome. Neuropathol Appl Neurobiol 2005;31:556-60. https://doi.org/10.1111/j.1365-2990.2005.00680.x
  10. Satge D, Moore SW, Stiller CA, Niggli FK, Pritchard-Jones K, Bown N, et al. Abnormal constitutional karyotypes in patients with neuroblastoma: a report of four new cases and review of 47 others in the literature. Cancer Genet Cytogenet 2003;147:89-98. https://doi.org/10.1016/S0165-4608(03)00203-6
  11. Honma T, Kanegane H, Shima T, Otsubo K, Nomura K, Miyawaki T. Neuroblastoma in an XYY male. Cancer Genet Cytogenet 2006;168:83-4. https://doi.org/10.1016/j.cancergencyto.2005.11.011
  12. Maris JM. The biologic basis for neuroblastoma heterogeneity and risk stratification. Curr Opin Pediatr 2005;17:7-13. https://doi.org/10.1097/01.mop.0000150631.60571.89
  13. Oguma N, Shigeta C, Kamada N. XYY male and hematologic malignancy. Cancer Genet Cytogenet 1996;90:179-81. https://doi.org/10.1016/S0165-4608(96)00094-5
  14. Xiao H, Dadey B, Block AW, Han T, Sandberg AA. Extra Y chromosome in chronic lymphoproliferative disorders. Cancer Genet Cytogenet 1991;51:207-13. https://doi.org/10.1016/0165-4608(91)90133-F
  15. Palanduz S, Aktan M, Ozturk S, Tutkan G, Cefle K, Pekcelen Y. 47,XYY karyotype in acute myeloid leukemia. Cancer Genet Cytogenet 1998;106:76-7. https://doi.org/10.1016/S0165-4608(98)00032-6