Ovarian-type epithelial tumours of the testis: immunohistochemical and molecular analysis of two serous borderline tumou

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Ovarian-type epithelial tumours of the testis: immunohistochemical and molecular analysis of two serous borderline tumours of the testis Tobias Bürger1, Hans-Ulrich Schildhaus1, Reinhard Inniger3, Joachim Hansen3, Peter Mayer4, Stefan Schweyer2, Heinz Joachim Radzun1, Philipp Ströbel1 and Felix Bremmer1*

Abstract Tumours of ovarian-epithelial type of the testis, including serous borderline tumours, represent very rare entities. They are identical to the surface epithelial tumours of the ovary and have been reported in patients from 14 to 68 years of age. We describe two cases of a 46- and a 39-year old man with incidental findings of intratesticular masses of the left respectively right testis. Under the assumption of a malignant testicular tumour the patients were subjected to inguinal orchiectomy. Histologically, the tumours were identical to their ovarian counterparts: They showed a cystic configuration with a fibrous wall and irregular papillary structures lined by partially multistratified columnar cells and areas of hobnail cells. Furthermore, there was mild cytological atypia with a proliferative activity of below 5 % as proved by Ki67 staining; mitoses could not be detected. Immunohistochemically, the tumour cells displayed expression of pan-cytokeratin AE3, progesterone receptor, Wilms’ tumour protein (WT1), and PAX8 (Paired box gene 8). Estrogen receptor was expressed in one case. Octamer-binding transcription factor-4 (OCT4), calretinin, thrombomodulin, and D2-40 were not expressed. Mutation testing of BRAF revealed a BRAF V600E mutation in one case, while testing for KRAS mutations proved to be negative in both. The BRAF mutated tumour showed strong cytosolic and membranous positivity for B-Raf also on immunohistochemical analysis. Comparative genomic hybridization of one case could not reveal any chromosomal aberrations. Keywords: Serous borderline tumour, Testis, Immunohistochemistry, KRAS, BRAF-V600E, CGH

Background Tumours of ovarian epithelial types of the testis represent rare entities, which histologically resemble their ovarian counterparts [1–3]. They have been reported in patients from 14 to 68 years of age and usually present as a scrotal enlargement [4]. In this case report we describe two cases of serous borderline tumours of the testis in a 46- and a 39-year old patient. We will illustrate the clinicopathologic characteristics and the results of BRAF and KRAS mutation analysis. In addition we performed comparative genomic hybridization (CGH) of one case.

Case presentations Case 1

A 46-year-old man presented in the urological clinic with painless heaviness of the left testis. Urological examinations showed an intratesticular mass of approximately 2 cm in diameter. On ultrasonography this mass proved to be cystic and solid. The tumour markers were not increased. Under the assumption of a malignant testicular tumour an inguinal orchiectomy was performed. The macroscopic inspection of the surgical specimen, which consisted of testis and testicular appendages, prese