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A Novel SRY Missense Mutation Affecting Nuclear Import in a 46,XY Female Patient with Bilateral Gonadoblastoma

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A Novel SRY Missense Mutation Affecting Nuclear Import in a 46,XY Female Patient with Bilateral Gonadoblastoma European Journal of Human Genetics (2009) 17, 1642 – 1649 & 2009 Macmillan Publishers Limited All rights reserved 1018-4813/09 $32.00 www.nature.com/ejhg ARTICLE A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma Remko Hersmus1, Bertie HCGM de Leeuw1, Hans Stoop1, Pascal Bernard2, Helena C van Doorn3, Hennie T Bru¨ggenwirth4, Stenvert LS Drop5, J Wolter Oosterhuis1, Vincent R Harley2 and Leendert HJ Looijenga*1 1Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands; 2Human Molecular Genetics Laboratory, Prince Henry’s Institute of Medical Research, Clayton, Victoria, Australia; 3Department of Gynaecologic Oncology, Erasmus MC-University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Department of Clinical Genetics, Erasmus MC-University Medical Center Rotterdam, Rotterdam, The Netherlands and 5Department of Pediatric Endocrinology, Erasmus MC-University Medical Center Rotterdam, Sophia, Rotterdam, The Netherlands Patients with disorders of sex development (DSD), especially those with gonadal dysgenesis and hypovirilization, are at risk of developing the so-called type II germ cell tumors (GCTs). Both carcinoma in situ and gonadoblastoma (GB) can be the precursor lesion, resulting in a seminomatous or non- seminomatous invasive cancer. SRY mutations residing in the HMG domain are found in 10–15% of 46,XY gonadal dysgenesis cases. This domain contains two nuclear localization signals (NLSs). In this study, we report a unique case of a phenotypical normal woman, diagnosed as a patient with 46,XY gonadal dysgenesis, with an NLS missense mutation, on the basis of the histological diagnosis of a unilateral GB. The normal role of SRY in gonadal development is the upregulation of SOX9 expression. The premalignant lesion of the initially removed gonad was positive for OCT3/4, TSPY and stem cell factor in germ cells, and for FOXL2 in the stromal component (ie, granulosa cells), but not for SOX9. On the basis of these findings, prophylactical gonadectomy of the other gonad was performed, also showing a GB lesion positive for both FOXL2 (ovary) and SOX9 (testis). The identified W70L mutation in the SRY gene resulted in a 50% reduction in the nuclear accumulation of the mutant protein compared with wild type. This likely explains the diminished SOX9 expression, and therefore the lack of proper Sertoli cell differentiation during development. This case shows the value of the proper diagnosis of human GCTs in identification of patients with DSD, which allows subsequent early diagnosis and prevention of the development of an invasive cancer, likely to be treated by chemotherapy at young age. European Journal of Human Genetics (2009) 17, 1642–1649; doi:10.1038/ejhg.2009.96; published online 10 June 2009 Keywords: disorders of sex development; germ cell tumors; gonadoblastoma; SRY *Correspondence: Professor LHJ Looijenga, Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Introduction Institute, Building Be, Room 430b, PO Box 2040, Rotterdam, 3000 CA, The Congenital conditions in which the development of Netherlands. chromosomal, gonadal or anatomical sex is atypical are Tel: þ 31 10 704 4329; Fax: þ 31 10 704 4365 referred to as disorders of sex development (DSD), E-mail: [email protected] 1 Received 20 February 2009; revised 15 April 2009; accepted 7 May 2009; previously known as intersex. DSD patients with 46,XY published online 10 June 2009 complete gonadal dysgenesis (previously referred to as SRY mutation affects nuclear import R Hersmus et al 1643 Swyer’s syndrome) have a high risk of developing a type II tive for OCT3/4, which is a reliable marker for type II GCTs malignant germ cell tumor (GCT) with gonadoblastoma with pluripotent potential.12 – 14 OCT3/4 is also known as (GB), often bilateral, as the precursor lesion (see Cools POU5F1, and is one of the transcription factors involved in et al2for a review). What these patients have in common is the regulation of pluripotency.14 – 16 In normal develop- that during early embryonic development, the initially ment, OCT3/4 is specifically found in primordial germ immature bi-potential gonads fail to differentiate along the cells/gonocytes, but is absent at later developmental stages. male (testicular) pathway. Pivotal to this process is the In cases of maturation delay, as can be observed in DSD sex-determining region on the Y chromosome (SRY)gene. patients with hypovirilization and gonadal dysgenesis, Typicallyduringmaledevelopment,expressionofSRYin this can lead to an overdiagnosis.17 Recently it was the gonadal stromal cells will upregulate the transcription of shown that stem cell factor (SCF) is an additional valuable another key DSD gene and transcription factor SOX9 marker, which distinguishes germ cells delayed in their through DNA binding to the testis enhancer of SOX9.3,4,5 maturation from malignant germ cells, being negative and This will subsequently lead to a cascade of signal transduc- positive, respectively.18 The development of a GB is tion with differentiation of the stromal cells into (pre-) dependent on the presence of part of the Y chromosome, Sertoli cells. The development of functional Sertoli cells known as the GBY region.19 One of the putative candidate produces anti-Mu¨llerian Hormone (AMH) and directs the genes for the involvement of this region is TSPY, which formation of testosterone-producing Leydig cells, ultimately denotes Testis Specific Protein on the Y chromosome.20 giving rise to male internal and external genitalia.6 In 10– The encoded protein is found to be highly expressed in CIS 15% of XY patients with male-to-female sex reversal (46,XY and GB.21 DSD), inactivating mutations in SRY have been identified, In this study, we report a unique case of GB in a with the majority residing in the HMG domain, and phenotypical adult woman of 26 years of age. In the DNA affecting the binding and bending of DNA.7,8 At the N- extracted from peripheral blood cells of this patient, a and C-terminal ends of this domain, two nuclear localiza- novel mutation was identified in the N-terminal NLS of tion signals (NLSs) are present. The biological effect of a SRY, resulting in reduced nuclear import, leading to number of the reported mutations can be explained by the gonadal dysgenesis. This was identified on the basis of fact that they reside in one of these NLSs, thereby disrupting the diagnosis of a unilateral GB. Subsequent prophylatic nuclear import. In general, mutations in SRY can lead to the removal of the remaining gonad indeed showed the failure of the bi-potential gonads to develop into testes with presence of another GB. This intervention prevented the the consequence that testosterone and AMH will not be development of an invasive type II GCT and the need of produced. Without testosterone, the external genitalia will chemotherapy for treatment. not virilize, and the Wolffian ducts fail to develop into epididymis, vas deferens and seminal vesicles. Without AMH, the Mu¨llerian ducts will not regress, and subsequently Materials and methods develop into female internal reproductive organs, namely Immunohistochemical staining the fallopian tubes, uterus and the upper portion of the Immunohistochemistry was performed on paraffin-em- vagina.6 At birth, these patients can show a phenotypical bedded slides of 3-mm thickness. The antibodies used female appearance, but they may present at puberty with directed against OCT3/4, SCF, TSPY, SOX9 and FOXL2 the absence of secondary sexual characteristics and primary have been described before.11,13,18,22,23 Briefly, after depar- amenorrhea. This is due to complete gonadal dysgenesis and affinization and 5 min incubation in 3% H2O2 for inacti- lack of ovarian function. Therefore, it is unusual to observe a vating endogenous peroxidase activity, antigen retrieval GB in a presumed normal female after puberty. was carried out by heating under pressure of up to 1.2 bar GB consists of a mixture of embryonic germ cells in an appropriate buffer. After blocking endogenous biotin (primordial germ cells/gonocytes) and supportive cells that using the Avidin/Biotin Blocking Kit (SP-2001; Vector resemble immature Sertoli/granulosa cells.9 It is recognized Laboratories, Burlingame, CA, USA), sections were incu- as the in situ germ cell malignancy, which in a substantial bated either overnight at 4 1C (SCF, TSPY) or for 2 h at room number of cases will develop into an invasive tumor temperature (OCT3/4, SOX9, FOXL2) and detected using (dysgerminoma or, less frequently, non-dysgerminoma). the appropriate biotinylated secondary antibodies and Carcinoma in situ (CIS), the precursor of the seminoma and visualized using the avidin–biotin detection and substrate non-seminomatous tumors in the testis, is the GB counter- kits (Vector Laboratories). Double staining for FOXL2 and part of the male gonad. It exists in close association with SOX9 was carried out as described before.11 Sertoli cells.10 The supportive cells in GB stain positive for the granulosa cell marker, FOXL2, and are (almost) always Fluorescent in situ hybridization negative for the Sertoli cell marker, SOX9.11 This reflects a Slides of 5-mm thickness were deparaffinized and heated blockage in testicular differentiation. CIS, GB and semi- under pressure as described above. The slides were digested noma, dysgerminoma and embryonal carcinoma are posi- using 0.01% Pepsin (Sigma Aldrich, St Louis, MO, USA) in European Journal of Human Genetics SRY mutation affects nuclear import R Hersmus et al 1644 0.02 M of HCl at 37 1C, with an optimal digestion time of drome. She had a history of treatment-resistant irregular 2.5 min. The slides were rinsed, dehydrated and the probes menstrual cycles after menarche at the age of 14 years. dissolved in a hybridization mixture were applied. Probes Echographic examination revealed an enlarged ovary of for centromere X (BamHI) and centromere Y (DYZ3) were 4.8 Â 3 cm on the right side, suspected to be a dermoid cyst.
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