Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

Marqui, Alessandra Bernadete Trovó de; Silva-Grecco, Roseane Lopes da; Balarin, Marly Aparecida Spadotto

doi:10.1016/j.rpped.2015.06.007

Cited by 13 publications

(5 citation statements)

References 33 publications

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“…Bianco et al observed that SRY or OCT4 gene expression increased the risk of developing gonadoblastoma, even in patients with Turner syndrome (31-33). De Marqui et al observed and described the prevalence of the Y chromosome with gonadoblastoma in Turner syndrome, and molecular analysis to determine Y chromosome sequences in Turner syndrome is indicated, regardless of karyotype (34).…”

Section: Gonadal Tumorsmentioning

confidence: 99%

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Germ Cell Tumors in Dysgenetic Gonads

Piazza

Urbanetz

2019

Clinics

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This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors.According to well-established methods, a PubMed systematic review was performed, to obtain relevant studies published in English and select those with the highest-quality data.Initially, the first search was performed using gonadal dysgenesis as the search term, resulting in 12,887 PubMed papers, published, from 1945 to 2017. A second search using ovarian germ cell tumors as the search term resulted in 10,473 papers, published from 1960 to 2017. Another search was performed in Medline, using germ cell neoplasia as the search term, and this search resulted in 7,560 papers that were published between 2003 to 2016, with 245 new papers assessing gonadoblastomas.The higher incidence of germ cell tumors in gonadal dysgenesis is associated with a chromosomal anomaly that leads to the absence of germ cells in these gonads and, consequently, a higher incidence of neoplasms when these tumors are located inside the abdomen. Several hypotheses suggest that increased incidence of germ cell tumors involves all or part of the Y chromosome or different genes.

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Section: Gonadal Tumorsmentioning

confidence: 99%

“…No factors have been associated with the etiology of dysgerminoma, apart from an increased incidence associated with dysgenetic gonads. A total of 5% of dysgerminomas are associated with cytogenetic abnormalities involving all or part of the Y chromosome or MGD, namely, 45,X/46,XY (34,38).…”

Section: Gonadal Tumorsmentioning

confidence: 99%

Germ Cell Tumors in Dysgenetic Gonads

Piazza

Urbanetz

2019

Clinics

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“…The last one, TSPY, has great relevance because it seems to be associated with the GBY region -an oncogenic locus found on the Y chromosomeand it showed high expression in some patients with gonadoblastoma. The SRY and DYZ3 genes, in turn, are the sequences most commonly used in studies, and play a role in sexual determination and chromosomal stability, respectively (8,15). Similar to Freriks's and cols.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, mosaicisms have proven to be more frequent than monosomy (1,6). Detecting Y-derived-material in TS is of great relevance for defining prognosis, for its presence increases risk of gonadal tumors, specially gonadoblastoma, as well as virilization and hyperandrogenism (7,8).…”

Section: Introductionmentioning

confidence: 99%

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

Soares¹,

Lago²,

Toralles³

et al. 2021

Archives of Endocrinology and Metabolism

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Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.

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“…Although SRY is important for other aspects of sexual differentiation, the SRY region of the Y chromosome has been found lacking in many patients with gonadoblastoma [19]. More recent literature suggests that FISH studies on patients with Turner syndrome should include probes that specifically target the SRY, TSPY, and DYZ3 gene regions to more adequately assess for the presence of cryptic Y chromosome material [7] [8] [9] [20]. In the present case, since the microarray analysis revealed that all regions of the Y chromosome were present in the dup(Y)(q11.21q11.23) cell line, the SRY probe was used as a marker for the presence of the aberrant Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

et al. 2017

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Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a duplicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

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Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

Abstract: according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated.

Cited by 13 publications

References 33 publications

Germ Cell Tumors in Dysgenetic Gonads

Germ Cell Tumors in Dysgenetic Gonads

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

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