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Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma

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Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma ANTICANCER RESEARCH 37 : 3975-3979 (2017) doi:10.21873/anticanres.11782 Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome KAZUNORI HASHIMOTO 1, YU HORIBE 1, JIRO EZAKI 2, TOSHIYUKI KANNO 1, NOBUKO TAKAHASHI 1, YOSHIKA AKIZAWA 1, HIDEO MATSUI 1, TOMOKO YAMAMOTO 2 and NORIYUKI SHIBATA 2 Departments of 1Obstetrics and Gynecology, and 2Pathology, Faculty of Medicine, Tokyo Women’s Medical University, Tokyo, Japan Abstract. Background: Frasier syndrome (FS) is case of primary amenorrhea with nephropathy. Prophylatic characterized by gonadal dysgenesis and progressive gonadectomy is recommended due to the high risk of nephropathy caused by mutation in the Wilm’s tumor gene gonadoblastoma in the dysgenetic gonad. (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically- Frasier syndrome (FS) is characterized by male removed streak gonad which revealed gonadoblastoma. Case pseudohermaphroditism and nephropathy, and was first Report: At the age of 3 years, the patient developed described in 46, XY monozygotic twins in 1964 (1). FS is nephrotic syndrome. This later became steroid-resistant and, caused by heterozygous de novo intronic splice site mutations by the age of 16 years, had progressed to end-stage renal in the Wilms’ tumor suppressor gene ( WT1 ), which is a failure with peritoneal dialysis. At the age of 17 years, the regulator of early gonadal and renal development (2). patient presented primary amenorrhea and was referred to We report here a case of FS diagnosed based on our department. Physical examination was consistent with amenorrhea with nephropathy, and laparoscopically removed Tanner 1 development and external genitalia were female streak gonad which revealed gonadoblastoma. This report phenotype. Speculum examination showed uterine cervix and was approved by the Institutional Review Board of Tokyo uterine body and bilateral ovaries were not palpable on Women’s Medical University and informed consent was pelvic examination. Multi-sliced computed tomography of given by the patient and her parents. abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic Case Report uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing A 16-year-old girl was referred for consultation by a hormone with low concentrations of estradiol and nephrologist for the evaluation of primary amenorrhea. At testosterone. The patient underwent genetic counseling with the age of 4 she was suffering from infectious her parents. Chromosomal status was 46XY karyotype and mononucleosis and found to have proteinuria; a renal DNA sequencing confirmed FS due to a heterozygous WT1 biopsy specimen diagnosed membranous nephropathy. She mutation (IVS9+5G>A). Elective laparoscopic bilateral developed nephrotic syndrome that was resistant to salpingo-oophorectomy was performed to avoid increased corticosteroid therapy. At 16 years of age, the patient had risk for gonadoblastoma. Pathological examination revealed progressed to end-stage renal failure and peritoneal gonadoblastoma in the right gonad. Conclusion: Although a dialysis had started. Before awaiting kidney rare disease, the diagnosis of FS should be considered in the transplantation, she was referred to our Department for consultation. Physical examination was consistent with Tanner stage 1 development and external genitalia were female phenotype. Speculum examination showed uterine Correspondence to: Kazunori Hashimoto, Department of Obstetrics cervix and uterine body and bilateral ovaries were not and Gynecology, Faculty of Medicine, Tokyo Women’s Medical palpable on pelvic examination. Multi-sliced computed University, Tokyo, Japan. Tel: +81 0333538111, Fax: +81 352697350, e-mail: [email protected] tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at the Key Words: Fraiser syndrome, gonadoblastoma, streak gonad, WT1 pelvic wall and hypoplastic uterus. Serum testing revealed gene mutation, case report. a pattern of primary hypogonadism, with elevated follicle- 3975 ANTICANCER RESEARCH 37 : 3975-3979 (2017) stimulating hormone (346.7 mIU/ml) and luteinizing Discussion hormone (165.7 mIU/ml), with low concentrations of estradiol (<10 pg/ml), testosterone (8.6 ng/dl). The patient The WT1 gene is located on the short arm of chromosome 11, had counseling with her parents at our Center for Medical band p13 (3), which consist of 10 exons, and encodes a Genetics. The patient’s chromosomal status was 46XY transcriptional factor that is a zinc-finger protein. FS and karyotype and DNA sequencing confirmed FS due to a Denys-Drash syndrome (DDS) are both caused by specific heterozygous WT1 gene mutation (IVS9+5G>A). mutations in WT1 and have similarities. However, the two The patient underwent laparoscopic surgery which syndromes have clinical and genetic differences. In DDS, a revealed a hypoplastic uterus, and bilateral long slender dominant negative mutation in exons 8 or 9 of WT1 leads to fallopian tube-like structures (Figure 1). There was a small production of abnormal WT protein. The nephropathy is amount of ascites and no peritoneal dissemination. Bilateral defined by diffuse mesangial sclerosis and manifests generally gonadectomy and salpingectomy was performed. The in the first year of life. Patients with DDS have a high risk of cytology of the ascites was negative and histopathological Wilms’ tumor of the kidney (4). In contrast, in FS, a point examination revealed gonadoblastoma in the right gonad. mutation on donor splice site on intron 9 [intervening The patient’s growth in stature had already halted. After the sequence (IVS 9)] of WT1 leads to nephropathy which appears surgery, she received cyclic hormone therapy (HT) using later in life and is due to focal segmental glomerulosclerosis. conjugated equine estrogen at a dosage of 0.625 mg/day for Progression to renal failure is slower. The renal pathology of 30 days and dydrogesterone at a dosage of 10 mg/day for 10 our case is not typical. There is no predisposition to Wilms’ days. Withdrawal bleeding occurred following HT. Bone tumor in FS but patients have a higher risk of mineral density (BMD) was measured using dual energy X- gonadoblastoma, which can be the presenting feature (5). ray absorptiometry (Hologic QDR 4500; Bedford, MA, WT1 is a regulator of early gonadal and renal USA). BMD of lumbar spine (L2-L4) before HT and 1 year development (2). Two major WT1 isoforms are produced by after HT was 0.743 g/cm 2 (T-score 71%) and 0.792 g/cm 2 alternative splicing of the lysine-threonine-serine (KTS) (T-score 75%), respectively. domain, including an insertion (+KTS) and a deletion (–KTS) (3). In the normal situation, approximately twice as Pathological findings. Specimens from the gonads were many +KTS as –KTS isoforms are produced. Intron 9 splice fixed in phosphate-buffered formaldehyde and processed into mutation affects the production of +KTS isoform and impairs paraffin blocks. Paraffin sections were routinely stained with the 2:1 ratio for +KTS and –KTS isoforms, respectively, hematoxylin and eosin (H-E). which are important for the normal development of the Histopathological examination revealed a tumor in the glomerular podocytes and for male sex determination (6). right gonad consisting of cellular nests of tumor cells The +KTS isoform of WT1 participates in RNA processing, surrounded by fibrous stroma and with foci of calcification and has been shown to play a crucial role in the regulation (Figure 2). The nests consisted of an admixture of large, of sex-determining region Y (SRY) in vivo in mice (2, 3). round germ cells with pale cytoplasm and large vesicular Thus it can be surmised that WT1 or SRY mutations can nuclei, and smaller oval cells with deeply staining nuclei of induce early errors in the process of sex determination granulosa or Sertoli cells. Some of the cells enclosed mediated by preventing proper formation of the testis. eosinophilic material forming Call-Exner-like bodies (Figure Furthermore, sex reversal is observed in male mice deficient 3). A histopathological examination of the left gonad in the +KTS isoform of WT1 (2). In human patients with FS, revealed only a microscopic focus of ovarian fibrotic stroma a point mutation on IVS 9 brings about down-regulation of with no germ cells the +KTS isoform of WT1, which in turn diminishes SRY Immunohistochemical staining of α- inhibin (Clone R1, expression levels (7), thereby impairing testicular M3609, 1:50; Dako, Glostrup, Denmark) and placental development (2). Thus, male to female sex reversal will alkaline phosphatase (A268, 1:100; Dako) was performed on occur in pediatric patients with FS with 46, XY (8). 3- μm-thick sections cut from the paraffin-embedded The diagnosis of FS is often suspected upon evaluation of specimen. Microwave antigen retrieval with Tris-EDTA primary amenorrhea in patients with end-stage renal disease (pH 9.0) was performed for α- inhibin. awaiting kidney transplantation and it is confirmed by In the immunohistochemistry of gonadoblastoma cells, demonstrating mutation in the WT1 gene, as in our case. smaller cells of sex cord origin positive for α- inhibin, as an The gonadoblastoma, composed of germ cells and stromal ovarian stromal marker, and the large germ cells were cells, which is the in situ source of germ cell malignancy of negative for α- inhibin (Figure 4A). On
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