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.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
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
Adhvaryu SG, Jani KH, Balar DB, Shah PM (1990) Klinefelter syndrome patient with chronic myelogenous leukemia. Cancer Genet Cytogenet 48:135–137
Arens R, Marcus D, Engelberg S, Findler G, Goodman RM, Passwell JH (1988) Cerebral germinoma and Klinefelter syndrome. A review. Cancer 61:1228–1231
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
Carroll PR, Morse MJ, Koduru PPK, Chaganti RSK (1988) Testicular germ cell tumor in patient with Klinefelter syndrome. Urology 31:72–74
Chaussain J-L, Lemerle J, Roger M, Canlorbe P, Job J-C (1980) Klinefelter syndrome, tumor, and sexual precocity. J Pediatr 97:607–609
Curry WA, McKay CE, Richardson RL, Greco FA (1981) Klinefelter's syndrome and mediastinal germ cell neoplasms. J Urol 125:127–129
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
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
Dehner LP (1983) Gonadal and extragonadal germ cell neoplasia of childhood. Hum Pathol 14:493–511
Dexeus FH, Logothetis CJ, Chong C, Sella A, Ogden S (1988) Genetic abnormalities in men with germ cell tumors. J Urol 140:80–84
Doll DC, Weiss RB, Evans H (1976) Klinefelter's syndrome and extragenital seminoma. J Urol 116:675–676
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
Feun LG, Samson MK, Stephens RL (1980) Vinblastine (VLB), bleomycin (BLEO), cis-diamminedichloroplatinum (DDP) in disseminated extragonadal germ cell tumors. Cancer 45:2543–2549
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
Floret D, Renaud H, Monnet P (1979) Sexual precocity and thoracic polyembryoma: Klinefelter syndrome? J Pediatr 94: 163
Fujimoto Y, Monden Y, Nakahara K, Kawashima Y (1985) Benign mediastianal teratoma associated with Klinefelter's syndrome. Jpn J Surg 15:221–224
Fujita K, Fujita HM (1976) Klinefelter's syndrome and bladder cancer. J Urol 116:836–837
Gerald PS (1976) Sex chromosome disorders. N Engl J Med 294:706–708
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
Hainsworth JD, Einhorn LH, Williams SD, Stewart M, Greco A (1982) Advanced extragonadal germ-cell tumors. Ann Intern Med 97:7–11
Kalifa G, Laniepce M, Chaussain JL, Bennet J (1983) Klinefelter's syndrome and mediastinal teratoma. Ann Radiol 26: 138–142
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
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
Lachman MF, Kim K, Koo B-C (1986) Mediastinal teratoma associated with Klinefelter's syndrome. Arch Pathol Lab Med 110:1067–1071
Lack EE, Weinstein HJ, Welch KJ (1985) Mediastinal germ cell tumors in childhood. J Thorac Cardiovasc Surg 89:826–835
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
Lee MW, Stephens RL (1987) Klinefelter's syndrome and extragonadal germ cell tumors. Cancer 60:1053–1055
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
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
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
Marsden HB, Birch JM, Swindell R (1981) Germ cell tumours of childhood: a review of 137 cases. J Clin Pathol 34:879–883
McKendrick JJ, Theaker J, Mead GM (1991) Nonseminomatous germ cell tumor with very high serum human chorionic gonadotropin. Cancer 67:684–689
McNeil MM, Leong AS-Y, Sage RE (1981) Primary mediastinal embryonal carcinoma in association with Klinefelter's syndrome. Cancer 47:343–345
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
Mullen B, Richardson JD (1986) Primary anterior mediastinal tumors in children and adults. Ann Thorac Surg 42:338–345
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
Nielsen HL, Frandsen F (1989) Klinefelter's syndrome associated with primary malignant mediastinal germinal cell tumour. Ugeskr Laeger 151:2897–2898
Nielsen J, Hansen J (1989) Chromosome abnormalities and varients in Denmark 1961–1988. Cytogenetic Laboratory, Aarhus
Penchansky L, Krause JR (1982) Acute leukemia following a malignant teratoma in a child with Klinefelter's syndrome. Cancer 50:684–689
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
Recondo J, Libshitz HI (1978) Mediastinal extragonadal germ cell tumors. Urology 11:369–375
Scheike O, Visfeldt J, Petersen B (1973) Male breast cancer. Acta Path Microbiol Scand A 81:352–358
Schimke RN, Madigan CM, Silver BJ, Fabian CJ, Stephens RL (1983) Choriocarcinoma, thyrotoxicosis, and the Klinefelter syndrome. Cancer Genet Gytogenet 9:1–7
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
Storm PB, Fallon B, Bunge RG (1976) Mediastinal choriocarcinoma in a chromatin-positive boy. J Urol 116:838–840
Turner AR, MacDonald RN, Gilbert JA, Petursson S (1981) Mediastinal germ cell cancers in Klinefelter's syndrome. Ann Intern Med 94:279
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
Vanfleteren E, Steeno O (1981) Klinefelter's syndrome and mediastinal teratoma. Andrologia 13:573–577
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
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
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01959079