Korean J Obstet Gynecol.  2011 Aug;54(8):468-473. 10.5468/KJOG.2011.54.8.468.

Ovarian mixed germ cell tumor in a patient with 45,X/46,X,+mar mosaic Turner's syndrome

• Kim HK
• Song MH
• Ahn BN
• Choi JY
• Oh HK
• Lee TS

• KMID: 2274069
• DOI: http://doi.org/10.5468/KJOG.2011.54.8.468

Abstract

We report a case that mixed germ cell tumor developed in an 18-year-old girl with 45,X/46,X,+mar mosaic Turner's syndrome. Molecular biological studies showed that the patient's DNA contained a fragment of Y chromosome. The patient underwent an operation and chemotherapy, and until now there is no evidence of recurrence. A presence of Y chromosome component should be evaluated in case a marker chromosome is found in a woman with Turner's syndrome.

Keyword

Turner syndrome; Marker chromosome; Germ cell tumor

MeSH Terms

Adolescent
DNA
Female
Germ Cells
Humans
Neoplasms, Germ Cell and Embryonal
Recurrence
Turner Syndrome
Y Chromosome
DNA

Figure

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  Fig. 1. Patient's axillary and pubic hair was absent, but her breast development was normal. (A) Tanner stage III.

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  Fig. 2. Chromosomal analysis showed mosaic Turner's syndrome [46,X,+mar] (A) and SRY gene of marker chromosome was identified (B).

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  Fig. 3. The representatives of MRI imaging showed large multiseptated cystic mass with solid component and thick septal wall, small and immature uterus, and no visible normal ovaries (A) horizontal view, (B) sagittal view.

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  Fig. 4. The resected right ovary shows solid and partially cystic tumor with areas of necrosis and hemorrhage (gross view).

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  Fig. 5. Representative microphotographs of right (A to E) and left (F) ovary. (A) Varying sized and shaped immature cartilage island embedded in immature mesenchymal stroma seen in immature teratoma portion (H&E, ×40). (B) Scattered primitive germ cells and lymphoplasma cells in dysgerminoma portion (H&E, ×100). (C) Abortive glands and papillae of primitive germ cells seen in embryonal carcinoma portion (H&E, ×40). (D) Reticular and microcystic structures in loose connective tissue of the yolk sac tumor portion (H&E, ×100), (E) Scattered multinucleated syncytial giant cells seen in the choriocarcinoma portion (H&E, ×100), (F) Multiple mineralized cartilage islands and nests of primitive germ cells in left ovary (H&E, ×40). (G) Positive immunohistochemical stain of alpha-fetoprotein in yolk-sac tumor component (×100). (H) Positive immunohistochemical stain of beta human chorionic gonadotropin in syncytial giant cells in choriocarcinoma component (×100). (I) Positive immunohistochemical stain of CD30 in primitive epithelial cells of embryonal carcinoma component (×100).

Reference

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