Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences?a Children's Cancer Group study

Bussey, Kimberly J.; Lawce, Helen J.; Olson, Susan B.; Arthur, Diane C.; Kalousek, Dagmar K.; Krailo, Mark; Giller, Roger; Heifetz, Stephen A.; Womer, Rick; Magenis, R. Ellen

doi:10.1002/(sici)1098-2264(199906)25:2<134::aid-gcc9>3.0.co;2-y

Cited by 134 publications

(68 citation statements)

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“…While age-dependent differences become clearly apparent, there is no obvious correlation with either site or histologic subtype of malignant germ cell tumor. 13,14,46 In particular, our meta-analysis unequivocally indicates that there is no apparent difference in the chromosomal constitution of testicular and CNS-GCTs (Figure 4). In accordance with the observation that the vast majority of CNS-germ cell tumors develop in adolescents and adults, 1 CNSGCTs also display CGH profiles characteristic of malignant germ cell tumors of this age group.…”

Section: Discussionmentioning

confidence: 55%

“…Characteristically, the vast majority of teratomas indeed do not show chromosomal aberrations on cytogenetic, CGH or array CGH analyses. 13,16,17,47 Nevertheless, it is very important to note that two of the teratomas included in our study (and both immature central nervous system teratomas analyzed by Rickert et al) show chromosomal imbalances resembling those of malignant germ cell tumors. This might indicate that in contrast to teratomas in infants, teratomas of adolescents and adults might be related to a maturational differentiation of malignant germ cell tumors with a preservation of genetic aberrations that may result in a potentially malignant clinical presentation (accordingly, patient no.…”

Section: The Role Of Gain Of 12p In Cns-gctsmentioning

confidence: 63%

“…[10][11][12] Notably, testicular germ cell tumors that arise during infancy and childhood show a divergent genetic profile that is characterized by loss of 1p and 6q, and gain of 1q and 20, while gain of 12p11-12 is not detectable. [13][14][15][16] In extragonadal germ cell tumors, similar age-dependent cytogenetic and moleculargenetic patterns have been identified. 13,17 There are only limited data regarding cytogenetic and molecular genetic patterns of intracranial germ cell tumors.…”

mentioning

confidence: 80%

“…[13][14][15][16] In extragonadal germ cell tumors, similar age-dependent cytogenetic and moleculargenetic patterns have been identified. 13,17 There are only limited data regarding cytogenetic and molecular genetic patterns of intracranial germ cell tumors. The largest genetic study published to date includes 15 pineal germ cell tumors analyzed with comparative genomic hybridization (CGH).…”

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confidence: 85%

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Molecular genetic analysis of central nervous system germ cell tumors with comparative genomic hybridization

et al. 2006

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The limited information available to date regarding the genetic alterations in germ cell tumors of the central nervous system has raised concerns about their biologic relationship to other germ cell tumor entities. We investigated fresh-frozen or archival tumor samples from 19 patients with central nervous system germ cell tumors (CNS-GCTs), including seven germinomas, eight malignant nongerminomatous germ cell tumors and four teratomas, using chromosomal comparative genomic hybridization to determine recurrent chromosomal imbalances. All 15 malignant CNS-GCTs and two of four teratomas showed multiple chromosomal imbalances. Chromosomal gains (median: 4 gains/tumor, range: 0-9 gains/tumor) were observed more frequently than losses (median: 1.6 losses/tumor, range: 0-6 losses/tumor). Gain of 12p, which is considered characteristic for germ cell tumors of the adult testis, was detected in 11 of 19 tumors and 10 of 15 malignant CNS-GCTs. In one tumor, gain of 12p was confined to an amplicon at 12p12, corresponding to the commonly amplified region on 12p. Other common gains were found on chromosome arms 1q and 8q (n ¼ 9, each). Among the chromosomal losses, parts of chromosome 11 (n ¼ 5), 18 (n ¼ 4), and 13 (n ¼ 3) were deleted most frequently. Notably, we observed no difference in the genetic profiles of germinomatous and nongerminomatous CNS-GCTs; however, the average number of imbalances was higher in the latter group. A meta-analysis comparing 116 malignant gonadal and extragonadal germ cell tumors revealed that the genomic alterations in CNS-GCTs are virtually indistinguishable from those found in their gonadal or other extragonadal counterparts of the corresponding age group. These data strongly argue in favor of common pathogenetic mechanisms in gonadal and extragonadal germ cell tumors. Keywords: germ cell tumor; central nervous system; extragonadal; chromosomal profile; isochromosome 12p; meta-analysis During childhood and adolescence, the majority of germ cell tumors arise outside of the gonads, and beyond early childhood, the central nervous system and the mediastinum constitute the most frequent sites of extragonadal germ cell tumors. 1 The vast majority of central nervous system germ cell tumors (CNS-GCTs) develop in the pineal gland or the suprasellar region, and approximately 10% of all CNS-GCTs present as bifocal tumors. 2,3 The extragonadal appearance of germ cell tumors is likely related to errors in germ cell migration during early embryonal development. Accordingly, imprinting studies of gonadal and extragonadal germ cell tumors show loss of the methylation imprint at imprinting control regions, correlating with the methylation status within early stages of primordial germ cell development. [4][5][6] However, the molecular mechanisms that interfere with normal homing of germ cells to the gonadal ridge and that allow for a

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Section: Discussionmentioning

confidence: 55%

Section: The Role Of Gain Of 12p In Cns-gctsmentioning

confidence: 63%

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confidence: 80%

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confidence: 85%

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Molecular genetic analysis of central nervous system germ cell tumors with comparative genomic hybridization

et al. 2006

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“…Prepubertal testicular teratomas represent approximately 30% of testicular germ cell tumors in children, 28 are typically pure, have a diploid DNA content 29 and normal 46,XY karyotype, 30 show normal findings by comparative genomic hybridization studies, 31 often have organoid tissue arrangements (Figure 3), lack cytological atypia and widespread mitotic activity, are not associated with IGCNU, 21 and are clinically benign. 28 These features are all similar to those mentioned above for mature ovarian teratomas.…”

Section: Mature Prepubertal Gonadal Teratomasmentioning

confidence: 99%