Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads

Gibbons, Barbara; Tan, Siang Yong; Yu, Cheng‐Ju; Cheah, E.; Tan, Hock Lim

doi:10.1046/j.1440-1754.1999.00319.x

Cited by 37 publications

(18 citation statements)

References 11 publications

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“…22 Data in the literature revealed 10 cases where the tumor developed during childhood, five of them had a 45,X/ 46,XY mixed gonadal dysgenesis and the diagnosis was performed only in one case at 9 months old while the rest were diagnosed around 10 years of age. [10][11][12][13][14][15] The other five patients had a 46,XY gonadal dysgenesis, one of them, a 3-year-old girl had campomelic dysplasia, sex reversal and bilateral gonadoblastoma while in the other four a WT1 mutation was observed. 16,[23][24][25][26] The presence of a suppress tumor mutation in these individuals could participate in early tumor development.…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis in infants is rare; [10][11][12] however, several cases were diagnosed around 10 year of age. [13][14][15][16][17] The presence of gonadoblastoma in young patients and the potential risk for malignant transformation is the main reason for early diagnosis and treatment in some cases of intersex patients. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis, who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age.…”

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confidence: 99%

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Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

et al. 2005

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Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/ seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

et al. 2005

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“…Evidence of Y-chromosomal material in the female karyotype is associated with a raised incidence of gonadoblastoma [6, 7]. Muroya et al [8]reported a patient with gonadoblatoma and mixed germ cell tumor, in whom Y-chromosomal material was found in the gonadoblastoma but absent in the mixed germ cell tumor, as a consequence of Y-chromosomal loss from rapidly proliferating gonadal cancer cells.…”

Section: Discussionmentioning

confidence: 99%

Ovarian Sertoli-Leydig Cell Tumor, Endometrioid-Like Yolk Sac Tumor, and Y-Chromosomal Material

Giorgi

Turci²,

Crisanti

et al. 2003

Oncology

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Sertoli-Leydig cell tumors (SLCTs) are rare neoplasms, accounting for less than 0.2% of ovarian tumors. The endometrioid-like variant of yolk sac tumor (YST) is very rare, and the most extensive series reported only 8 cases. We present a case of ovarian SLCT with endometrioid-like YST in a patient with a 46,XX karyotype with Y-chromosomal material. A 26-year-old woman had undergone a right salpingo-oophorectomy for SLCT with endometrioid-like YST. Chromosomal analysis revealed a 46,XX karyotype with Y-chromosomal material insertion into chromosome 1. The patient’s father and sister, and 7 other paternal relatives (4 male and 3 female) presented the same chromosome variant without evidence of cancer. The YST component relapsed to the right side of the uterine wall and then metastasized to the peritoneum and liver, while SLCT was eradicated with primary surgery. Several chemotherapeutic regimens were totally ineffective to control tumor progression. She died of disease progression 54 months after the diagnosis. We adopted the policy of a close surveillance for ovarian neoplasms for the 22-year-old sister of the patient, who presented the same Y-chromosomal material in her karyotype. In very rare tumors, new methods, based on molecular and cytogenetic models, are requested to define recommended management.

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“…Hence, it is recommended that the gonads should be removed before hormone treatment (Gibbons et al 1999;Gravholt et al 2000;Mazzanti et al 2005;Pena-Alonso et al 2005;Brant et al 2006).…”

Section: Molecular Genetic Analysismentioning

confidence: 99%

Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method

Semerci

Şatıroğlu-Tufan

Turan

et al. 2007

Tohoku J. Exp. Med.

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A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack of development of secondary sexual characteristics, webbed neck and cubitus valgus. This phenotype was described by Turner in 1938 and was called Turner syndrome (TS). About 40-60% of the patients with TS phenotype have a 45,X karyotype, the rest either have a structurally abnormal X or Y chromosome or mosaicism with a second cell line. Determination of Y chromosome derivatives in patients with a 45,X karyotype is important for the management of these patients due to increased risk of gonadoblastoma. Low level mosaicisim of Y chromosome may be missed by cytogenetic methods. The aim of our study is to analyze cryptic Y chromosome derivatives using Y specific sequences in 40 Turkish patients with a pure 45,X karyotype. Fourteen different Y specific sequences along the Y chromosome were selected for the detection of cryptic Y chromosome material by PCR analysis. The present study demonstrated that 2 patients with a 45,X karyotype (5%) have Y specific sequences except sex releated region Y (SRY). One of them had displayed enhanced virilisation whereas other showed no virilisation. In conclusion, it has been found by PCR analysis that 5% of patients with a 45,X karyotype have Y chromosome sequences in the absence of any marker chromosome by cytogenetic analysis. The data also suggest that the patients with a 45,X karyotype should be analyzed for the presence of Y chromosome derivatives by sensitive methods, such as PCR, in order to calculate the future risk of developing gonadoblastoma.

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Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads

Cited by 37 publications

References 11 publications

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Ovarian Sertoli-Leydig Cell Tumor, Endometrioid-Like Yolk Sac Tumor, and Y-Chromosomal Material

Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method

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