Detection of Hidden Y Mosaicism in Turner's Syndrome: Importance in the Prevention of Gonadoblastoma

Bianco, Bianca; Lipay, Mônica Vannucci Nunes; Melaragno, Maria Isabel; Guedes, Alexis Dourado; Verreschi, Ieda Therezinha do Nascimento

doi:10.1515/jpem.2006.19.9.1113

Cited by 61 publications

(69 citation statements)

References 29 publications

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“…Thus, the use of molecular methods for identifying Y-chromosome-specific sequences has become an indispensable tool for detecting hidden mosaicism. [31][32][33][34] Nazarenko et al 35 also observed that cytogenetic analysis may not provide precise information on the presence of chromosomal mosaicism in patients with TS. Additional analysis of cells from tissues of different embryonic origins (mesodermal lymphocytes and ectodermal oral epithelium cells, for instance) allowed greater precision in defining the cytogenetic diagnosis.…”

Section: Detection Of Mosaicismmentioning

confidence: 99%

Y chromosome in Turner syndrome: review of the literature

Oliveira¹,

Verreschi

Lipay

et al. 2009

Sao Paulo Med. J.

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Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype.Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions. RESUMOA síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino.Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60% dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso.Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60% dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30%) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, indepen...

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Section: Detection Of Mosaicismmentioning

confidence: 99%

Y chromosome in Turner syndrome: review of the literature

Oliveira¹,

Verreschi

Lipay

et al. 2009

Sao Paulo Med. J.

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show abstract

“…1,3,9,10 Today, there is no consensus regarding the need to systematically look for Y material in Turner's syndrome cases with the 45,X karyotype, given the possibility of gonadoblastoma development. 11 Therefore, FISH takes on a very important role in identifying such cases. 5,12,13 Although further studies are needed in order to define the precise risk of gonadoblastoma development in cases of 45,X/46,XY mosaicism, 9 patients with Turner's syndrome or Y mosaicism should have their gonads removed because fertility is not an issue, surgery presents low risk, and there is potentially a high risk of malignant degeneration in gonadic bands.…”

Section: 2mentioning

confidence: 99%

Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

et al. 2008

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CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.

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“…Embora ainda controverso (53), nessas pacientes, o risco de câncer está associado, principalmente, à presença do cromossomo Y, íntegro ou não, que pode levar ao desenvolvimento de gonadoblastoma e/ou disgerminoma nas gônadas disgenéticas (55).…”

Section: Hormônio De Crescimento E Síndrome De Turnerunclassified

O hormônio de crescimento na síndrome de Turner: dados e reflexões

Guedes

Bianco

Callou

et al. 2008

Arq Bras Endocrinol Metab

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A baixa estatura é a principal característica na síndrome de Turner (ST). O agravo estatural na ST é precoce e torna-se mais evidente na puberdade. A haploinsuficiência do gene SHOX tem sido implicada como principal fator na definição da estatura de mulheres, no entanto, ainda que a maioria das pacientes não tenha deficiência do hormônio de crescimento, a terapia com GHr melhora a altura final. Recentemente, tem-se chamado a atenção para a associação entre GH e câncer. O risco de câncer nessas pacientes está associado à presença de fragmentos do cromossomo Y que pode levar ao desenvolvimento de gonadoblastoma. Dessa forma, a administração de GHr na ST deve ser feita com cautela. A investigação de seqüências do cromossomo Y deve ser realizada, bem como a gonadectomia profilática nos casos positivos, conferindo maior segurança ao tratamento.

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Detection of Hidden Y Mosaicism in Turner's Syndrome: Importance in the Prevention of Gonadoblastoma

Abstract: A systematic search for hidden Y chromosome mosaicism in patients with TS and 45,X karyotype is justified by the possibility of developing gonadoblastoma.

Cited by 61 publications

References 29 publications

Y chromosome in Turner syndrome: review of the literature

Y chromosome in Turner syndrome: review of the literature

Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

O hormônio de crescimento na síndrome de Turner: dados e reflexões

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