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Mediastinal germ cell tumour associated with Klinefelter syndrome

A report of case and review of the literature

  • Hematology/Oncology
  • Published:
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Abstract

A 14-year-old boy with Klinefelter syndrome (KS) and a large mediastinal tumour is presented. Human chorionic gonadotropin and oestradiol were markedly increased. An attempt at radical resection was performed. Histological examination revealed a malignant germ cell tumour of mixed histologic pattern composed of choriocarcinoma and components of mature teratoma. Four courses of cisplatin, bleomycin, and etoposide were given. The patient is without any evidence of tumour recurrence 20 months after diagnosis. A review of the literature revealed another 40 cases of primary mediastinal germ cell tumour (PMGCT) associated with KS. Compiled data from larger series demonstrate that at least 8% of male patients with PMGCT have KS, 50 times the expected frequency. In contrast to PMGCT in patients without KS, all tumours were of nonseminomatous histology, and the average age was considerably lower, Tumours in prepubertal boys were associated with precocious puberty.

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Abbreviations

AFP:

alpha-foetoprotein

HCG:

human chorionic gonadotropin

FSH:

follicle stimulating hormone

KS:

Klinefelter syndrome

LH:

luteinizing hormone

PMGCT:

primary mediastinal germ cell tumour

References

  1. Adhvaryu SG, Jani KH, Balar DB, Shah PM (1990) Klinefelter syndrome patient with chronic myelogenous leukemia. Cancer Genet Cytogenet 48:135–137

    Google Scholar 

  2. Arens R, Marcus D, Engelberg S, Findler G, Goodman RM, Passwell JH (1988) Cerebral germinoma and Klinefelter syndrome. A review. Cancer 61:1228–1231

    Google Scholar 

  3. Beasley SW, Tiedemann K, Howat A, Werther G, Auldist AW, Tuohy P (1987) Precocious puberty associated with malignant thoracic teratoma and malignant histiocytosis in a child with Klinefelter's syndrome. Med Pediatr Oncol 15:277–280

    Google Scholar 

  4. Carroll PR, Morse MJ, Koduru PPK, Chaganti RSK (1988) Testicular germ cell tumor in patient with Klinefelter syndrome. Urology 31:72–74

    Google Scholar 

  5. Chaussain J-L, Lemerle J, Roger M, Canlorbe P, Job J-C (1980) Klinefelter syndrome, tumor, and sexual precocity. J Pediatr 97:607–609

    Google Scholar 

  6. Curry WA, McKay CE, Richardson RL, Greco FA (1981) Klinefelter's syndrome and mediastinal germ cell neoplasms. J Urol 125:127–129

    Google Scholar 

  7. Danon M, Weintraub BD, Kim SH, Scully RE, Crawford JD (1978) Sexual precocity in a male due to thoracic polyembryo J Pediatr 92:51–54

    Google Scholar 

  8. Davis RD, Oldham HN, Sabiston DC (1987) Primary cysts and neoplasms of the mediastinum: recent changes in clinical presentation, methods of diagnosis, management, and results. Ann Thorac Surg 44:229–237

    Google Scholar 

  9. Dehner LP (1983) Gonadal and extragonadal germ cell neoplasia of childhood. Hum Pathol 14:493–511

    Google Scholar 

  10. Dexeus FH, Logothetis CJ, Chong C, Sella A, Ogden S (1988) Genetic abnormalities in men with germ cell tumors. J Urol 140:80–84

    Google Scholar 

  11. Doll DC, Weiss RB, Evans H (1976) Klinefelter's syndrome and extragenital seminoma. J Urol 116:675–676

    Google Scholar 

  12. Economou JS, Trump DL, Holmes EC, Eggleston JE (1982) Management of primary germ cell tumors of the mediastinum. J Thorac Cardiovasc Surg 83:643–649

    Google Scholar 

  13. Feun LG, Samson MK, Stephens RL (1980) Vinblastine (VLB), bleomycin (BLEO), cis-diamminedichloroplatinum (DDP) in disseminated extragonadal germ cell tumors. Cancer 45:2543–2549

    Google Scholar 

  14. Floret D, Chapard A, Scherrer M, Phillipe N, Chappuis JP, Bouvier R, Claustrat B, Forest M, Monnet P (1981) Klinefelter's syndrome associated with precocious puberty due to tumoral secretion of chorionic gonadotropins. Arch Fr Pediatr 38:129–132

    Google Scholar 

  15. Floret D, Renaud H, Monnet P (1979) Sexual precocity and thoracic polyembryoma: Klinefelter syndrome? J Pediatr 94: 163

    Google Scholar 

  16. Fujimoto Y, Monden Y, Nakahara K, Kawashima Y (1985) Benign mediastianal teratoma associated with Klinefelter's syndrome. Jpn J Surg 15:221–224

    Google Scholar 

  17. Fujita K, Fujita HM (1976) Klinefelter's syndrome and bladder cancer. J Urol 116:836–837

    Google Scholar 

  18. Gerald PS (1976) Sex chromosome disorders. N Engl J Med 294:706–708

    Google Scholar 

  19. Gohji K, Goto A, Takenaka A, Arakawa S, Matumoto O, Hikosaka K, Kamidono S (1989) Extragonadal germ cell tumor in the retrovesical region associated with Klinefelter's syndrome: A case report and review of the literature. J Urol 141:133–136

    Google Scholar 

  20. Hainsworth JD, Einhorn LH, Williams SD, Stewart M, Greco A (1982) Advanced extragonadal germ-cell tumors. Ann Intern Med 97:7–11

    Google Scholar 

  21. Kalifa G, Laniepce M, Chaussain JL, Bennet J (1983) Klinefelter's syndrome and mediastinal teratoma. Ann Radiol 26: 138–142

    Google Scholar 

  22. Knapp RH, Hurt RD, Payne WS, Farrow GM, Lewis BD, Hahn RG, Muhm JR, Earle JD (1985) Malignant germ cell tumors of the mediastinum. J Thorac Cardiovasc Surg 89:82–89

    Google Scholar 

  23. König R, Schönberger W, Grimm W (1990) Mediastinal teratocarcinoma and pituitary stalk germinoma in a patient with Klinefelter's syndrome. Klin Pädiatr 202:53–56

    Google Scholar 

  24. Lachman MF, Kim K, Koo B-C (1986) Mediastinal teratoma associated with Klinefelter's syndrome. Arch Pathol Lab Med 110:1067–1071

    Google Scholar 

  25. Lack EE, Weinstein HJ, Welch KJ (1985) Mediastinal germ cell tumors in childhood. J Thorac Cardiovasc Surg 89:826–835

    Google Scholar 

  26. Ladanyi M, Samaniego F, Reuter VE, Motzer RJ, Jhanwar SC, Bosl J, Chaganti RSK (1990) Cytogenetic and immunohistochemical evidence for the germ cell origin of a subset of acute leukemias associated with mediastinal germ cell tumors. J Natl Cancer Inst 82:221–227

    Google Scholar 

  27. Lee MW, Stephens RL (1987) Klinefelter's syndrome and extragonadal germ cell tumors. Cancer 60:1053–1055

    Google Scholar 

  28. Liang R, Woo E, Ho F, Collins R, Choy D, Ma J (1990) Klinefelter's syndrome and primary central nervous system lymphoma. Med Pediatr Oncol 18:236–239

    Google Scholar 

  29. Malogolowkin MH, Mahour GH, Krailo M, Ortega JA (1990) Germ cell tumors in infancy and childhood: a 45-year experience. Pediatr Pathol 10:231–241

    Google Scholar 

  30. Mann BD, Sparkes RS, Kern DH, Morton DL (1983) Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47, XXY Klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor. Cancer Genet Cytogenet 8:191–196

    Google Scholar 

  31. Marsden HB, Birch JM, Swindell R (1981) Germ cell tumours of childhood: a review of 137 cases. J Clin Pathol 34:879–883

    Google Scholar 

  32. McKendrick JJ, Theaker J, Mead GM (1991) Nonseminomatous germ cell tumor with very high serum human chorionic gonadotropin. Cancer 67:684–689

    Google Scholar 

  33. McNeil MM, Leong AS-Y, Sage RE (1981) Primary mediastinal embryonal carcinoma in association with Klinefelter's syndrome. Cancer 47:343–345

    Google Scholar 

  34. Mukerjee D, Bowen J, Anderson DE (1970) Simian papovavirus 40 transformation of cell from cancer patient with XY/XXY mosaic Klinefelter's syndrome. Cancer Res 30:1769–1772

    Google Scholar 

  35. Mullen B, Richardson JD (1986) Primary anterior mediastinal tumors in children and adults. Ann Thorac Surg 42:338–345

    Google Scholar 

  36. Nichols CR, Heerema NA, Palmer C, Loehrer PJ, Williams SD, Einhorn LH (1987) Klinefelter's syndrome associated with mediastinal germ cell neoplasms. J Clin Oncol 5:1290–1294

    Google Scholar 

  37. Nielsen HL, Frandsen F (1989) Klinefelter's syndrome associated with primary malignant mediastinal germinal cell tumour. Ugeskr Laeger 151:2897–2898

    Google Scholar 

  38. Nielsen J, Hansen J (1989) Chromosome abnormalities and varients in Denmark 1961–1988. Cytogenetic Laboratory, Aarhus

    Google Scholar 

  39. Penchansky L, Krause JR (1982) Acute leukemia following a malignant teratoma in a child with Klinefelter's syndrome. Cancer 50:684–689

    Google Scholar 

  40. Pierson M, Gilgenkrantz S, Saborio M, Worms A-M (1975) Syndrome de Klinefelter — trilogie de Fallot tératome du médiastin et puberté précoce. Pédiatrie 30:185–192

    Google Scholar 

  41. Recondo J, Libshitz HI (1978) Mediastinal extragonadal germ cell tumors. Urology 11:369–375

    Google Scholar 

  42. Scheike O, Visfeldt J, Petersen B (1973) Male breast cancer. Acta Path Microbiol Scand A 81:352–358

    Google Scholar 

  43. Schimke RN, Madigan CM, Silver BJ, Fabian CJ, Stephens RL (1983) Choriocarcinoma, thyrotoxicosis, and the Klinefelter syndrome. Cancer Genet Gytogenet 9:1–7

    Google Scholar 

  44. Sogge MR, McDonald SD, Cofold PB (1979) The malignant potential of the dysgenetic germ cell in Klinefelter's syndrome. Am J Med 66:515–518

    Google Scholar 

  45. Storm PB, Fallon B, Bunge RG (1976) Mediastinal choriocarcinoma in a chromatin-positive boy. J Urol 116:838–840

    Google Scholar 

  46. Turner AR, MacDonald RN, Gilbert JA, Petursson S (1981) Mediastinal germ cell cancers in Klinefelter's syndrome. Ann Intern Med 94:279

    Google Scholar 

  47. Valdés-Dapena MA, Huff DS, DiGeorge AM (1974) The association of congenital malformations and malignant tumors in infants and children. Ann Clin Lab Sci 4:363–371

    Google Scholar 

  48. Vanfleteren E, Steeno O (1981) Klinefelter's syndrome and mediastinal teratoma. Andrologia 13:573–577

    Google Scholar 

  49. Whitcomb RW, Schimke RN, Kyner JL, Lukert BP, Johnson DC (1986) Endocrine studies in a male patient with choriocarcinoma and gynecomastia. Am J Med 81:917–920

    Google Scholar 

  50. Wollner N, Ghavimi F, Wachtel A, Luks E, Exelby P, Woodruff J (1991) Germ cell tumors in children: Gonadal and extragonadal. Med Pediatr Oncol 19:228–239

    Google Scholar 

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Authors and Affiliations

  1. Department of Paediatrics, Odense University Hospital, DK-5000, Odense C, Denmark

    H. Hasle & B. B. Jacobsen

  2. Department of Pathology, Odense University Hospital, DK-5000, Odense C, Denmark

    P. Asschenfeldt

  3. Department of Thoracic Surgery, Odense University Hospital, DK-5000, Odense C, Denmark

    K. Andersen

Authors
  1. H. Hasle
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  2. B. B. Jacobsen
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  3. P. Asschenfeldt
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  4. K. Andersen
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Hasle, H., Jacobsen, B.B., Asschenfeldt, P. et al. Mediastinal germ cell tumour associated with Klinefelter syndrome. Eur J Pediatr 151, 735–739 (1992). https://doi.org/10.1007/BF01959079

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  • DOI: https://doi.org/10.1007/BF01959079

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