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Case Report
Embryonal Carcinoma of the Pineal Gland Developed in an Adolescent Boy with Klinefelter Syndrome
Clin Pediatr Hematol Oncol 2019;26:105-9.
Published online October 31, 2019
© 2019 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Hyo Jin Choi1, Eun Ah Kim1, Jae Min Lee1, Kyung Mi Jang1 and Joon Hyuk Choi2

Departments of 1Pediatrics and 2Pathology, Yeungnam University Hospital, Daegu, Korea
Correspondence to: Kyung Mi Jang
Department of Pediatrics, Yeungnam University College of Medicine, 170 Hyeonchung-ro, Nam-gu, Daegu 42415, Korea
Tel: +82-53-620-3532
Fax: +82-53-629-2252
E-mail: fortune001j@gmail.com
ORCID ID: orcid.org/0000-0002-2226-9268
Jae Min Lee
Department of Pediatrics, Yeungnam University College of Medicine, 170 Hyeonchung-ro, Nam-gu, Daegu 42415, Korea
Tel: +82-53-620-3536
Fax: +82-53-629-2252
E-mail: mopic@hanmail.net
ORCID ID: orcid.org/0000-0001-6822-1051
Received July 16, 2019; Revised September 12, 2019; Accepted October 5, 2019.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose individuals to the development of several cancers. Moreover, there are many case reports that show KS patients to have a higher relative risk for the development of malignancy. However, incracranial germ cell tumor (ICGCT) associated with KS is very uncommon. Herein, we report delayed diagnosis of KS in a 15-year-old boy with ICGCT, embryonal carcinoma of the pineal gland, after multimodality treatment in Korea.
Keywords: Klinefelter syndrome, Aneuploidy, Intracranial germ cell tumor
References
  1. Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism, and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab 1942;2:615-27.
    CrossRef
  2. Bonomi M, Rochira V, Pasquali D, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest 2017;40:123-34.
    Pubmed KoreaMed CrossRef
  3. Hanks S, Rahman N. Aneuploidy-cancer predisposition syndromes:a new link between the mitotic spindle checkpoint and cancer. Cell Cycle 2005;4:225-7.
    Pubmed CrossRef
  4. De Sanctis V, Fiscina B, Soliman A, Giovannini M, Yassin M. Klinefelter syndrome and cancer: from childhood to adulthood. Pediatr Endocrinol Rev 2013;11:44-50.
    Pubmed
  5. Hasle H, Mellemgaard A, Nielsen J, Hansen J. Cancer incidence in men with Klinefelter syndrome. Br J Cancer 1995;71:416-20.
    Pubmed KoreaMed CrossRef
  6. Gao Y, Jiang J, Liu Q. Extragonadal malignant germ cell tumors:a clinicopathological and immunohistochemical analysis of 48 cases at a single Chinese institution. Int J Clin Exp Pathol 2015;8:5650-7.
    Pubmed KoreaMed
  7. Queipo G, Aguirre D, Nieto K, et al. Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies. Cytogenet Genome Res 2008;121:211-4.
    Pubmed CrossRef
  8. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364:273-83.
    Pubmed CrossRef
  9. 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.
    Pubmed CrossRef
  10. Aguirre D, Nieto K, Lazos M, et al. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Hum Pathol 2006;37:477-80.
    Pubmed CrossRef
  11. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Cytogenetics Group. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. J Natl Cancer Inst 2005;97:1204-10.
    Pubmed CrossRef
  12. Okada Y, Nishikawa R, Matsutani M, Louis DN. Hypomethylated X chromosome gain and rare isochromosome 12p in diverse intracranial germ cell tumors. J Neuropathol Exp Neurol 2002;61:531-8.
    Pubmed CrossRef
  13. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome-a clinical update. J Clin Endocrinol Metab 2013;98:20-30.
    Pubmed CrossRef
  14. Fennoy I. Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): a review. Acta Paediatr 2011;100:846-50.
    Pubmed CrossRef
  15. Jang MA, Jung CW, Jung CW. Extra X chromosome in mosaic Klinefelter syndrome is associated with a hematologic malignancy. Ann Lab Med 2013;33:297-9.
    Pubmed KoreaMed CrossRef


October 2019, 26 (2)
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Author ORCID Information
  • Jae Min Lee 
  • Kyung Mi Jang