Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience

Coyle, David; Kutasy, Balázs; Suyin, Kathleen Han; Antao, Brice; Lynch, Sally Ann; McDermott, Michael; O’Çonnell, Susan; Quinn, Feargal

doi:10.1016/j.jpurol.2016.02.009

Cited by 47 publications

(33 citation statements)

References 25 publications

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“…She was diagnosed with TS mosaicism (45,X mosaicism to develop a gonadoblastoma between 2 and 16 years of age; 11 however, gonadoblastoma has been reported in a patient as young as 5 months of age. [11][12][13] Intraoperative imprint cytology of our patient's neoplasm revealed two characteristic types of cells consistent with histopathological findings, suggesting a tumor including elements of both gonadoblastoma and dysgerminoma. 7,12 Our patient received her medical care from pediatricians until she was referred to us at 19 years of age; the timing of her bilateral gonadectomy was therefore somewhat late compared with patients reported in the literature.…”

Section: Case Reportsupporting

confidence: 76%

“…12 Despite discussion based on many retrospective studies, 10-12 the appropriate timing of prophylactic gonadectomy has not been established. She was diagnosed with TS mosaicism (45,X mosaicism to develop a gonadoblastoma between 2 and 16 years of age; 11 however, gonadoblastoma has been reported in a patient as young as 5 months of age.…”

Section: Case Reportmentioning

confidence: 99%

“…The gonadoblastoma Y (GBY) locus, located on the pericentromeric region of the short arm of the Y chromosome, predisposes to tumor development 9. Gonadoblastoma can undergo transformation into invasive dysgerminoma in 60% of patients; it can also transform into other malignant forms of germ cell tumors, 10 such as embryonic carcinoma, immature teratoma, yolk sac tumor, and choriocarcinoma, and so preventive gonadal resection is recommended [10][11][12]. It is possible for children with TS and Y-chromosomeF I G U R E 3 Macroscopic findings.…”

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confidence: 99%

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Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review

Nagai

Hasegawa

Motegi

et al. 2019

Diagnostic Cytopathology

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Section: Case Reportsupporting

confidence: 76%

Section: Case Reportmentioning

confidence: 99%

mentioning

confidence: 99%

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Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review

Nagai

Hasegawa

Motegi

et al. 2019

Diagnostic Cytopathology

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“…The age at which the tumors are detected varies, and they are often observed in the second decade of life [de Marqui et al, 2016] but can also be observed in young children [Saenger, 2008]. An Irish study analyzed 14 children with 45,X/46,XY mosaicism [Coyle et al, 2016], and GB was diagnosed in 4 patients aged 5, 48, and 71 months, and 13 years, respectively. GB arose in 1 patient with genital virilization and in 2 patients without virilization.…”

Section: Discussionmentioning

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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“…A recent report on GB in TMSY showed evidence of GB in a patient as young as 5 months and postulates that GB is diagnosed more commonly in the second decade of life due to later diagnoses of TMSY and consequent later elective gonadectomy procedures, rather than later new onset of GB. It also raises the question of whether GB could be present antenatally or perinatally in some cases [23]. …”

Section: Discussionmentioning

confidence: 99%

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

MacMahon

O’Sullivan²,

McDermott³

et al. 2016

Horm Res Paediatr

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Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB.

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Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience

Cited by 47 publications

References 25 publications

Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review

Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review

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

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

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