The following paragraphs describe the biologically distinct subtypes of GCTs found in children and adolescents. It should be emphasized that very few pediatric GCT specimens have been analyzed to date. Biologic distinctions between GCTs in children versus adults may not be absolute.[1,2]
Family caregivers may be spouses, partners, children, relatives, or friends who help the patient with activities of daily living and health care needs at home.
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Children: These GCTs typically present during early childhood. The tumors are commonly composed of pure yolk sac tumor (also known as endodermal sinus tumor), are generally diploid or tetraploid, and usually lack the isochromosome of the short arm of chromosome 12 that characterizes testicular cancer in young adults.[1,3,4,5,6] Deletions of chromosomes 1p, 4q, and 6q and gains of chromosomes 1q, 3, and 20q are reported as recurring chromosomal abnormalities for this group of tumors.[5,6,7]
Adolescents and young adults: These tumors typically possess an isochromosome of the short arm of chromosome 12 [8,9,10,11] and are aneuploid.[3,11] Although adolescent testicular germ cell patients may be best treated at pediatric oncology centers, the treatment regimens for adolescents older than 14 years follow regimens used in adults. (Refer to the PDQ summary on Testicular Cancer Treatment for more information.)
Ovarian GCTs occur primarily in adolescent and young adult females. While the majority of ovarian GCTs are benign mature teratomas, a heterogeneous group of malignant GCTs occur in females, including immature teratomas, dysgerminomas, yolk sac tumors, and mixed GCTs. Patients with pediatric ovarian GCTs have an excellent prognosis. One series of 66 patients followed over 44 years reported recurrence and mortality rates of 4.5% and 3%, respectively. The malignant ovarian GCT commonly shows increased copies of the short arm of chromosome 12. (Refer to the PDQ summary on Ovarian Germ Cell Tumors Treatment for more information.)
Extragonadal Extracranial GCTs
Children: These tumors typically present at birth or during early childhood. The majority of these tumors are benign teratomas occurring in the sacrococcygeal region, and hence SEER data do not include them.[14,15] Malignant yolk sac tumor histology occurs in a minority of these tumors, however, with cytogenetic abnormalities similar to those observed for tumors occurring in the testes of young males.[4,5,6,7]
Older children, adolescents, and young adults: The mediastinum is the most common primary site for extragonadal GCTs in older children and adolescents. Mediastinal GCTs in children younger than 8 years share the same genetic gains and losses as sacrococcygeal and testicular tumors in young children.[17,18,19] The gain in chromosome 12p has been reported in mediastinal tumors in children aged 8 years and older.[19,20]
There is very little data about the potential genetic or environmental factors associated with childhood extracranial GCTs. Patients with Klinefelter syndrome [21,22,23] are at increased risk for mediastinal GCTs, while patients with Swyer syndrome [24,25] are at increased risk for gonadoblastomas and germinomas.
Palmer RD, Foster NA, Vowler SL, et al.: Malignant germ cell tumours of childhood: new associations of genomic imbalance. Br J Cancer 96 (4): 667-76, 2007.
Palmer RD, Barbosa-Morais NL, Gooding EL, et al.: Pediatric malignant germ cell tumors show characteristic transcriptome profiles. Cancer Res 68 (11): 4239-47, 2008.
Oosterhuis JW, Castedo SM, de Jong B, et al.: Ploidy of primary germ cell tumors of the testis. Pathogenetic and clinical relevance. Lab Invest 60 (1): 14-21, 1989.
Silver SA, Wiley JM, Perlman EJ: DNA ploidy analysis of pediatric germ cell tumors. Mod Pathol 7 (9): 951-6, 1994.
Perlman EJ, Cushing B, Hawkins E, et al.: Cytogenetic analysis of childhood endodermal sinus tumors: a Pediatric Oncology Group study. Pediatr Pathol 14 (4): 695-708, 1994 Jul-Aug.
Schneider DT, Schuster AE, Fritsch MK, et al.: Genetic analysis of childhood germ cell tumors with comparative genomic hybridization. Klin Padiatr 213 (4): 204-11, 2001 Jul-Aug.
Perlman EJ, Valentine MB, Griffin CA, et al.: Deletion of 1p36 in childhood endodermal sinus tumors by two-color fluorescence in situ hybridization: a pediatric oncology group study. Genes Chromosomes Cancer 16 (1): 15-20, 1996.
Rodriguez E, Houldsworth J, Reuter VE, et al.: Molecular cytogenetic analysis of i(12p)-negative human male germ cell tumors. Genes Chromosomes Cancer 8 (4): 230-6, 1993.
Bosl GJ, Ilson DH, Rodriguez E, et al.: Clinical relevance of the i(12p) marker chromosome in germ cell tumors. J Natl Cancer Inst 86 (5): 349-55, 1994.
Mostert MC, Verkerk AJ, van de Pol M, et al.: Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults. Oncogene 16 (20): 2617-27, 1998.
van Echten J, Oosterhuis JW, Looijenga LH, et al.: No recurrent structural abnormalities apart from i(12p) in primary germ cell tumors of the adult testis. Genes Chromosomes Cancer 14 (2): 133-44, 1995.
De Backer A, Madern GC, Oosterhuis JW, et al.: Ovarian germ cell tumors in children: a clinical study of 66 patients. Pediatr Blood Cancer 46 (4): 459-64, 2006.
Riopel MA, Spellerberg A, Griffin CA, et al.: Genetic analysis of ovarian germ cell tumors by comparative genomic hybridization. Cancer Res 58 (14): 3105-10, 1998.
Malogolowkin MH, Mahour GH, Krailo M, et al.: Germ cell tumors in infancy and childhood: a 45-year experience. Pediatr Pathol 10 (1-2): 231-41, 1990.
Marsden HB, Birch JM, Swindell R: Germ cell tumours of childhood: a review of 137 cases. J Clin Pathol 34 (8): 879-83, 1981.