Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients

Knauer-Fischer, Sabine; Besikoglu, B; Inta, Ioana; Kneppo, Carolin; Vogt, Peter H.; Bettendorf, Markus

doi:10.1055/s-0034-1387734

Cited by 15 publications

(28 citation statements)

References 20 publications

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“…In the case of a 46 XX karyotype, the necessity of bilateral gonadectomy is less clear and rareness of the situation makes it difficult to decide the appropriate treatment [14]. Chromosomal analysis is useful to diagnose androgen insensitivity/male pseudohermaphroditism (46,XY) and Turner syndrome (45,XO) [14,15]. In the present case, the recurrent tumor after 6 months was apparently more aggressive cyto-morphologically and was given adjuvant chemotherapy.…”

Section: Discussionmentioning

confidence: 80%

“…For the patients having dysgenetic gonads, bilateral oophorectomy and hysterectomy was recommended as treatment of choice. In the case of a 46 XX karyotype, the necessity of bilateral gonadectomy is less clear and rareness of the situation makes it difficult to decide the appropriate treatment [14]. Chromosomal analysis is useful to diagnose androgen insensitivity/male pseudohermaphroditism (46,XY) and Turner syndrome (45,XO) [14,15].…”

Section: Discussionmentioning

confidence: 99%

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Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

Haiyat¹,

Akhtar²,

Aden³

et al. 2018

Journal of Surgery and Medicine

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This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND 4.0) where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. AbstractGonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects patients with disorders of sexual development. The exact prevalence of gonadoblastoma is not known. The association of gonadoblastomas with dysgerminoma is seen in 50-60% of cases and with other malignant germ cell tumours like yolk sac tumour, embryonal carcinoma and choriocarcinoma in 10% of cases. We herewith report a rare case of recurrent unilateral gonadoblastoma in a 10 year old Indian male who presented with abnormal passage of urine since birth. Physical examination showed a phenotypic male with undescended right testis and ambiguous external genitalia. Computed tomography scan reported mixed density solid cystic mass in pelvis with peripherally enhancing solid component and a few punctuate foci of calcification. Histo-pathological examination showed a heterogeneous tumor comprising of malignant seminomatous, sertoli and leydig cell tumor along with yolk cell tumor component. Serum alpha fetoprotein was raised to 1210 ng/ml. Keywords: Gonadoblastoma, Seminoma, Yolk sac tumor, Ambiguous genitalia Öz Gonadoblastom, malign transformasyon potansiyeli olan ve cinsel gelişim bozukluğu olan hastaları etkileyen nadir bir benign tümördür. Gonadoblastomun kesin prevalansı bilinmemektedir. Gonadoblastomaların dysgerminoma ile ilişkisi olguların %50-60'ında ve vakaların %10'unda yolk kesesi tümörü, embriyonal karsinom ve koriokarsinom gibi diğer malign germ hücreli tümörlerde görülür. Bu yazıda, doğumdan beri idrarın anormal geçişi ile başvuran 10 yaşındaki bir Hintli erkeğin nadir bir tekrarlayan tek taraflı gonadoblastoma vakasını sunduk. Fizik muayenede inmemiş sağ testis ve belirsiz dış genital bölgede fenotipik bir erkek vardı. Bilgisayarlı tomografi taraması, pelviste periferik olarak gelişen katı bileşen ve birkaç noktalama kalsifikasyon odakları ile karışık yoğunluktaki katı kistik kitleyi bildirdi. Histo-patolojik inceleme, yumurta hücresi tümör bileşeniyle birlikte malign seminomatöz, sertoli ve leydig hücresi tümörünü içeren heterojen bir tümör gösterdi. Serum alfa fetoprotein 1210 ng/ml düzeyine çıktı.

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Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

Haiyat¹,

Akhtar²,

Aden³

et al. 2018

Journal of Surgery and Medicine

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“…The frequency of gonadoblastoma in TS patients with positive amplification for Y-chromosome is summarized in Table 3, with information on gonadectomy and gonadoblastoma in TS in 9 of 14 studies. The results of five studies3 , 14 , 15 , 17 , 21 are not included in Table 3 for the following reasons: (1) two studies had no information on gonadectomy and gonadoblastoma in the text3 , 21; (2) in two studies patients were scheduled for clinical follow-up17 or monitoring by a multidisciplinary team of biologist, psychologist, geneticist, endocrinologist, and gynecologist14; and (3) in one study prophylactic gonadectomy was offered to all patients with Y sequences, however, the same patients opted for regular monitoring by ultrasound and CT 15…”

Section: Resultsmentioning

confidence: 99%

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

Marqui

Silva-Grecco

Balarin

2016

Revista Paulista de Pediatria

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“…Knauer-Fischer et al [2015] identified the GBY locus in 7 patients (11.7%), including 4 patients without evidence for a Y chromosome in standard karyotype analysis. Clinical and auxological characteristics are similar in GBY -positive and GBY -negative patients.…”

Section: Discussionmentioning

confidence: 99%

“…The Y chromosome or Y-specific sequences have been detected in only a small number of TS cases (5%) by routine cytogenetic analyses; however, the true percentage of these cases may in fact be higher (8-12%) [Tsuchiya et al, 1995;Muroya et al, 1999;Cortés-Gutiérrez et al, 2012;Knauer-Fischer et al, 2015] as demonstrated in studies using more sensitive molecular techniques, such as FISH or PCR. Such studies are important for the proper clinical management of TS patients.…”

mentioning

confidence: 99%

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

Rojek

Obara-Moszynska

Kolesinska

et al. 2017

Sex Dev

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The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30.9%) were Y-positive, but only 7/17 had a Y chromosome in their karyotype and underwent gonadectomy. In 2 of these patients (28.6%), histopathologic examination revealed gonadoblastoma and dysgerminoma, respectively. In 8 patients in the studied group (8/55; 14.5%), the TSPY gene was detected, and the SRY gene (or a fragment) was identified in 9(3)/55 patients. No coding region mutations were observed in these SRY-positive patients. In conclusion, we have shown a high prevalence of Y chromosomal material in TS. Y markers were also observed in patients who had no Y chromosome in their karyotype, and PCR is very precise in detecting the presence of genetic material from the Y chromosome. Further follow-up of these Y-positive TS patients is mandatory.

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Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients

Abstract: Presence of the GBY locus in Turner patients with no indication of the Y chromosome in standard cytogenetic chromosome analysis can be revealed by sensitive molecular PCR assays screening for presence of the Y centromere and the GBY-candidate-genes in proximal Yp11 and Yq11, respectively.

Cited by 15 publications

References 20 publications

Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

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

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

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