Case report: an identical twin with Sertoli-Leydig cell tumor

Our report details the workup and management of a 43-year-old woman with an identical twin who presented with 2 years of virilization and secondary amenorrhea. Serum total testosterone was elevated. An MRI did not identify adnexal or adrenal pathology. Subsequent ovarian vein sampling demonstrated unilateral testosterone elevation. The patient underwent laparoscopic unilateral oophorectomy resulting in the diagnosis of Sertoli-Leydig cell tumor (SLCT). Although SLCT is a rare sex-cord ovarian tumor, it is associated with endometrial hyperplasia and malignancy. Our goals are to review the workup of androgen-secreting tumors and discuss the clinical importance of the DICER1 mutation in the context of SLCT. In this case, an identical twin underwent DICER1 testing which was one of the essential steps in her clinical management.     

Ovarian Sertoli-Leydig cell tumor: success with salvage therapy

A case of metastatic ovarian Sertoli-Leydig cell tumor is presented. The patient achieved a complete pathologic response with four courses of cisplatin, vinblastine and bleomycin chemotherapy. Recurrence of the tumor was detected with elevated serum alpha-fetoprotein. After surgical debulking, the recurrence was treated with intra-arterial cisplatin and intravenous etoposide with pelvic radiation therapy followed by intravenous doxorubicin and cyclophosphamide. The patient is alive and disease free 75 months after initial diagnosis, 4 years after salvage therapy.     

Ovarian Sertoli-Leydig cell tumor with heterologous gastrointestinal epithelium as a source of alpha-fetoprotein: a case report

Ovarian Sertoli-Leydig cell tumors (SLCT) are rare sex cord stromal neoplasms. To date there have been approximately 25 case reports of ovarian SLCT expressing alpha-fetoprotein (AFP). In such cases, AFP was immunohistochemically detected in the Sertoli cells, Leydig cells, or hepatocytes. This case report confirms heterologous gastrointestinal epithelium expression of AFP. A 20-year-old woman presented with complaints of abdominal enlargement and irregular menstrual cycles over one year. A right ovarian tumor was detected and the patient's serum AFP was elevated. A right salpingo-oophorectomy was performed. On microscopic examination, the tumor was composed of a fibrosarcoma-like area and a poorly differentiated SLCT area with heterologous gastrointestinal epithelium. Immunohistochemical analysis detected AFP in the gastrointestinal epithelium only. Postoperatively, serum AFP levels fell to normal. A recurrent tumor was discovered in the omentum after adjuvant chemotherapy, but serum AFP remained normal. A second laparotomy was performed and the recurrent tumor showed only fibrosarcoma-like features. The patient received second line chemotherapy and is currently in remission. This is the first case of AFP production by heterologous gastrointestinal epithelium in SLCT.     

Sertoli-Leydig cell tumor

Sertoli-Leydig cell tumors belong to the group of sex-cord stromal tumors of the ovary. They account for less than 0,5% of all ovarian neoplasms. The majority of these tumors are benign, and almost all are localised unilaterally. Herewith, we describe an ovarian Sertoli-Leydig cell tumor in an 11-year-old girl. Serum levels of estradiol and progesterone were mildly elevated, while testosterone and androstendion levels were raised to around three- and sevenfold upper normal limit respectively on presentation. A left salpingo-oophorectomy was performed. Microscopically, the tumor was intermediately differentiated. At 6 months follow-up, there was neither clinical nor sonographical evidence of recurrence, and almost all sex hormone levels had returned to within normal range. Treatment of this pathological entity has to be individualized according to patient age, stage of tumor and degree of differentiation. Received: 15 May 2000 / Accepted: 26 July 2000     

An ovarian Sertoli-Leydig cell tumor with heterologous mucinous gland and NSE-immunoreactive-cell

Summary A rare case of ovarian Sertoli-Leydig cell tumor with heterologous mucinous glands and tiny carcinoid-like foci in a 33-year-old female is reported. In addition to these heterologous elements, peculiar cells, which were oval, eosinophilic and neuron-specific enolase (NSE)-positive, were also observed and had not been described previously. These NSE-immunoreactive cells were different from argentaffin cells observed in mucinous glands and carcinoid-like foci, and seemed to play a significant role in the appearance of the heterologous mucinous gland. The nature of this peculiar NSE-immunoreactive cell is discussed.     

A clinicopathological analysis of 40 cases of ovarian Sertoli-Leydig cell tumors

Objective

To evaluate the clinicopathological features of ovarian Sertoli-Leydig cell tumors (SLCTs) and to explore the reasonable therapy.

Methods

A total of 40 cases of SLCTs were retrospectively reviewed.

Results

The incidence of SLCTs was 0.41%, with a median age of 28 years. All tumors were confined to one ovary. Four tumors were well differentiated, 14 were intermediately differentiated, 20 were poorly differentiated, and 2 were undefined; 2 cases had heterologous elements, and 3 had a retiform pattern. The patients were classified into 3 groups: androgen excess (25/40), estrogen excess (6/40), and no endocrine changes (9/40). The percentages of tumors > 10 cm in diameter were 8.0%, 16.7% and 40.0%, respectively; the percentages of poor differentiation were 40.0%, 50.0% and 77.8%, respectively; and the percentages of tumor rupture were 20.0%, 16.7% and 66.7%, respectively. One patient underwent cystectomy, 27 underwent unilateral salpingo-oophorectomy, and 12 underwent total hysterectomy and bilateral salpingo-oophorectomy. A total of 23 patients received postoperative chemotherapy. One patient died of diabetic nephropathy, and 3 were lost to follow up. The remaining 36 were followed up from 12 to 377 (average 70.4) months. Two patients with stage Ic tumors of poor differentiation had a recurrence within 13 and 21 months, and both obtained complete remission after the second surgery and chemotherapy.

Conclusions

The prognosis of SLCTs is good, although poorly differentiated tumors may recur. Conservative surgery is acceptable for young patients wishing to preserve fertility, and postoperative adjuvant chemotherapy and long-term follow up are recommended to those with high-risk factors.     

卵巢支持莱迪细胞瘤15例临床病理分析

目的:探讨卵巢支持莱迪细胞瘤的临床特点、病理特征、治疗及预后.方法:回顾性分析我院1962年至2009年诊治的15例卵巢支持莱迪细胞肿瘤患者的临床和病理资料.结果:15例术前均未考虑本病,其中13例有男性化、女性化及去女性化表现.6例女性化表现患者同时合并雌激素相关疾病(如子宫肌瘤、子宫内膜癌、子宫内膜增生).14例术中见大体肿瘤,1例因子宫内膜癌手术,术后病理检查发现本病.肿瘤高分化6例,中分化5例(含有网状及异型成分1例),低分化4例.2例低分化肿瘤术中冰冻病理检查分别误诊为卵巢癌及卵巢颗粒细胞瘤.5例患者保留生育功能,其中3例实现生育.8例患者接受分期手术,其中1例术中发现肿瘤大网膜转移.15例中,9例中、低分化者术后接受辅助化疗.随诊2 ～ 34年,14例患者无瘤存活,1例低分化肿瘤治疗后4年复发.结论:支持莱迪细胞瘤难以及时诊断,患者的内分泌表现是提示本病的重要线索.预后良好,对于本病患者可行保留生育功能手术,但需注意低分化肿瘤的复发问题.     

Ovarian Sertoli-Leydig cell tumors. a retrospective MITO study

Objective

To evaluate clinicopathologic features and to investigate the outcome of patients with ovarian Sertoli-Leydig cell tumors (SLCTs).

Methods

Data concerning 21 patients treated in 11 MITO centers were retrospectively reviewed.

Results

Median age was 37 (range 16-76). FIGO stage was: 17 (81%) IA, 1 (4.8%) IC, 1 (4.8%) IIB and 2 (9.5%) IIIC. Five patients (23.8%) had G1 tumor, ten (47.6%) had G2, and six (28.6%) had G3. Fertility-sparing operation was performed in 11 patients, while hysterectomy with bilateral salpingo-oophorectomy was executed in 10 patients; five patients received adjuvant chemotherapy (G2-3). Seven patients (33.3%) relapsed with a median time to recurrence of 14 months. Six recurrent patients had G2-3 disease, while one had G1. Four patients had stage IA disease, one IC and 2 stage IIIC. Patients with stage IA disease did not receive adjuvant chemotherapy. Two patients had pelvic recurrence, 4 abdominal (one with lymph nodal involvement), one on the contralateral ovary and the trocar access. Five patients underwent salvage surgery plus chemotherapy, while one received only salvage chemotherapy and one palliation.Five patients died of disease, four had received first treatment not in a MITO center. 5 year overall survival was 100% for patients with G1 disease and 77.8% for G2-3. 5 year overall survival was 92.3% for stage I and 33.3% for stage > I.

Conclusions

The prognosis of patients with grade 1 SLCT is excellent without adjuvant chemotherapy. Patients with advanced stage or grade 2-3 tumors appear to benefit from postoperative chemotherapy.     

Virilising ovarian tumour: a case associating a Sertoli-Leydig cell tumour and a Brenner tumour

Ovarian Sertoli-Leydig cell tumours (SLCT), also termed arrhenoblastomas, are the most frequent virilising tumours in women of reproductive age. Very rare secretory Brenner tumours (BT) have been described, generally after the menopause. A 31-year-old woman sought medical advice for secondary amenorrhoea, progressive hirsutism and a 5-year history of virilisation syndrome with clitoromegaly. Testosterone was markedly high (285 ng/dl, N<85) with moderate elevation of delta 4-androstenedione (D4AD) (311 ng/dl, N <270), dehydroepiandrosterone sulfate (DHEAS) (366 μg/dl, N <340) and 17-hydroxyprogesterone (17OHP) (275 ng/dl). LH was 9 IU/l, FSH 4.3 IU/l, estradiol 60 pg/ml and progesterone 314 ng/100?ml. Cortisol was decreased (1.3 μg/dl) after the dexamethasone suppression test. Pelvic MRI showed a 5-cm right ovarian tumour with a 2.5?cm nodular component and cystic areas, and two nodules measuring 11?mm and 15?mm above the right and left ovaries. After right ovariectomy by laparoscopy, pathological examination concluded on a 3-cm SLCT and a 2-cm BT; the nodules above the ovaries were dysembryoplastic cysts. Postoperatively, testosterone level was normal after 24?h (26 ng/dl), estradiol and progesterone rapidly decreased, cyclic secretion then resumed and the patient menstruated at day 27. To our knowledge, this is the first report of an ovarian tumour associating a Sertoli-Leydig cell tumour and a Brenner tumour in a patient with virilisation syndrome which resolved after ovariectomy.     

Complete Androgen Insensitivity Syndrome with a Sertoli-Leydig Cell Tumor

BackgroundThe complete androgen insensitivity (testicular feminization) syndrome was described in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or sparse pubic or axillary hair. Gonads consist usually of seminiferous tubules without spermatogenesis.CaseWe report the case of a 15-year-old girl with testicular feminization since age 4. She was admitted to surgically remove the testes from the inguinal canal. Microscopic examination of the left testis revealed a Sertoli-Leydig cell tumor and the draft of fallopian tube with adjacent seminiferous tubules.Summary and ConclusionThese patients have a 5%-10% risk of developing germ cell tumors. Sertoli-Leydig cell tumors are uncommon neoplasms, usually benign in testicular feminization syndrome.     

Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman

Abstract

Approximately, 5% of ovarian tumors have hormonal activity. Steroid cell tumors (SCTs) represent about 0.1% of all ovarian tumors. They cause hyperandrogenism associated with typical virilization. In this case report, we present 45-year-old women with unmalignant ovarian SCT-producing androgens which cause severe virilization and secondary amenorrhea lasting two years. Transvaginal ultrasound, computed tomography of adrenal glands, magnetic resonance imaging of small pelvis, laboratory tests (including serum concentration of FSH, LH, testosterone (T), androstenedione (A), dehydroepiandrosterone sulfate (DHEA-S), as well as ROMA index) were performed. During hormonal evaluation, elevated concentrations of serum T – on admission 1.72?ng/ml and one month later 3.75?ng/ml (normal range 0.08–0.82?ng/ml) and A – 24.90?ng/ml (normal range 0.40–3.40?ng/ml) were found. The ROMA index was within the normal range. Enlargement of the left ovary by solid mass 56?×?43?mm was found during ultrasound examination. Based on small pelvis MRI scan and hormonal finding, patient was qualified for laparotomy. During this procedure, the left salpingo-oophorectomy with removal of the tumor was performed. The histopathological examination identified SCT. During follow-up examination, one day after surgery, we found serum testosterone levels within normal ranges – 0.74?ng/ml (normal range 0.08–0.82?ng/ml). This case shows that hormone-producing ovarian tumors are rare but very important clinical causes of severe hyperandrogenism.     

Unusual location of ovarian mixed germ cell tumor

Intra-abdominal unusual location of mixed germ cell tumor of ovary, which consisted of endodermal sinus tumor and immature teratoma components, has been reported. Patient was a 21-year-old girl with a chief complaint of abdominal pain and mass. Ultrasound and computed tomography scan showed lobulated cystic mass. Laparotomy was performed, and due to specific localization, in which tumor localized as a tumoral bridge between two ovaries, we just performed maximal fertility-sparing surgery by preserving ovaries, tubes, and uterus. After that, four courses of chemotherapy (bleomycin, etoposide, and cis-platinum) were done to cure her. The alfa-fetoprotein became negative after three courses of chemotherapy, and she is under observation for the time being.     

早期成人型卵巢颗粒细胞瘤复发相关因素分析北大核心CSCD

目的探讨国际妇产科联盟(FIGO)(2014版)Ⅰ期成人型卵巢颗粒细胞瘤复发的相关高危因素。方法回顾性分析首都医科大学附属北京朝阳医院及中国医学科学院北京协和医院1995年1月至2010年1月收治的FIGOⅠ期成人型卵巢颗粒细胞瘤。分析患者临床及病理相关因素与肿瘤复发的关系。结果研究共纳入18例FIGOⅠ期成人型卵巢颗粒细胞瘤患者,患者中位年龄为43岁(31~69岁)。初始治疗中7例行单纯肿瘤剥除/单侧附件切除术,8例行子宫双附件切除术,3例行卵巢肿瘤全面分期术。患者术后5年和10年总生存率分别为94.4%和83.3%。共6例患者复发,中位复发时间为76个月。肿瘤直径>10cm、术中瘤体破裂是患者近期复发(<5年)的高危因素。低分化、术中瘤体破裂、高核分裂象(≥4/10HPF)是患者远期复发(≥5年)的高危因素。结论早期成人型卵巢颗粒细胞瘤整体预后好,高核分裂象、术中瘤体破裂可能是早期卵巢颗粒细胞瘤复发的潜在高危因素。     

卵巢颗粒细胞瘤预后影响因素的分析

目的 探讨卵巢颗粒细胞瘤临床、病理因素对预后的影响。方法 回顾性分析我院１９５８年至１９９５年收治的１００例卵巢颗粒细胞瘤患者的年龄、临床分期、核分裂相及早期患者的治疗方法选择等因素与预后的,并对复发与未复发患者,近期复发（〈１０年）与远期复发（≥１０年）患者进行比较。结果 全组总的５年和１０年生存率分别为８０％和７２％。不同年龄患者（≥４０岁,〈４０岁）的５年和１０年生存率,分别比较,差异无显著性（Ｐ〉０．０５）。临床分期为Ⅰ期者５年和１０年生存率分别为９８％和９６％,Ⅱ期分别为７０％和６０％,Ⅲ～Ⅳ期均为０％;外院治疗后复发或未控者５年和１０年生存率分别为５８％和４０％,分别比较,差异均有显著性（Ｐ均〈０．０５）。４７例有核分裂相计数的患者中,核分裂相〈５／１０高倍视野（ＨＰＦ）的５年和１０年生存率均为９６     

Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary

We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.     

Recurrent ovarian granulosa cell tumor: a case report of a dramatic response to Taxol

A case is described of a granulosa cell tumor (GCT) of the ovary that recurred 2 years after cessation of platin-based chemotherapy. In view of the extent and volume of the disease at recurrence, and because of the reported poor response rates to second-line chemotherapy, Taxol was given. There was a dramatic response and tumor shrinkage to single-agent therapy with Taxol.