XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.

We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.

Paediatric dysgerminoma: Results of three consecutive French germ cell tumours clinical studies (TGM-85/90/95) with late effects study.

METHODS: French patients (≤18years) treated for dysgerminoma between 1985 and 2005 in TGM-85, 90, 95 protocols were included. Treatment was based on primary unilateral oophorectomy followed by prophylactic lymph node irradiation (1985-1998) or a wait-and-see strategy (1998-2005) for localised completely resected tumours (pS1) or by platinum-based chemotherapy for advanced diseases. RESULTS: Forty-eight patients (median age 12.8 years) were included. Six patients had gonadal dysgenesis. Two had bilateral dysgerminoma. Twenty-eight patients had loco-regional dissemination, seven with para-aortic lymph nodes. None had distant metastases. Primary surgery was performed in 47/48 patients. Among the 15 patients with pS1 tumour: seven did not receive adjuvant treatment, six had lymph node irradiation and two received chemotherapy. Among the 32 patients with advanced tumour, 31 received cisplatinum-based (n = 25) or carboplatin-based (n = 8) regimen with lymph node irradiation for one of them and one did not receive adjuvant treatment. With a median follow-up of 14 years, all patients are alive in complete remission. Five events occurred: 2 contralateral dysgerminomas, 1 peritoneal relapse and 2 second neoplasms (teratoma and melanoma). Bilateral oophorectomy was necessary for 12 patients. Desire of pregnancy was expressed for 17/36 patients with unilateral oophorectomy, which succeeded in 13 cases (5 medically assisted). 2/17 had ovarian failure. The renal function was normal in 24/25 evaluated patients treated with platinum, ifosfamide or irradiation. The hearing function was evaluated on 17/36 patients treated with platinum: 12 Brock grade-0, 3 brock grade-1 and 2 grade-4. CONCLUSION: Dysgerminoma has an excellent prognosis even in advanced cases with conservative surgery and platinum-based chemotherapy. However the disease and/or treatment resulted in a high rate of bilateral oophorectomies and a significant impact on future fertility.

Ovarian dysgerminoma: a case report and literature review.

A 27-year-old nulligravida active duty U.S. Navy chief petty officer presented with right flank pain and recurrent urinary tract infections without any history of nocturnal sweating or unexplained weight loss. Her physical examination was remarkable for mild right costovertebral angle tenderness and urinalysis showed hematuria. Subsequent computed tomography urolithiasis protocol revealed a 5 × 13 × 7 cm right pelvic mass. Further evaluation of the mass with magnetic resonance imaging revealed a solid, enhancing right ovarian mass and para-aortic lymphadenopathy; additional samples were drawn demonstrating elevated serum lactate dehydrogenase, suggestive of malignancy. Dysgerminoma was suspected and subsequent salpingo-oophorectomy and lymph node biopsies confirmed the diagnosis. The prevalence, common presentation, diagnosis, clinical course, and prognosis--with specific attention to cooperative management of this patient in many aspects of military medicine: primary care, gynecology, oncology, and radiology--were explored.

Bilateral poorly differentiated Sertoli-Leydig ovarian tumor associated with dysgerminoma: case report.

Sertoli-Leydig cell tumors are rare stromal tumors of the ovary. They account for less than 0.5% of ovarian neoplasms. From a histological point of view, they show large diversity, making their clinical symptoms diverse as well. They are mostly unilateral, with average diameter 13.5 cm at the moment of diagnosis. Histologically, poorly-differentiated Sertoli-Leydig tumors pose a diagnostic problem, often being clinically asymptomatic which makes their detection relatively late, preventing efficient treatment, and resulting in worse prognosis. This article presents a rare case of bilateral poorly-differentiated Sertoli-Leydig ovarian tumor, characterized by heterologous histological structure, without hormonal unbalance, and without signs of defeminization and/or virilization, its diagnostics, and treatment.

[Malignant ovarian germ cell tumors--clinical characteristics and analysis of outcomes]. / Zlosliwe guzy germinalne jajnika--charakterystyka grupy chorych i analiza wyników leczenia.

OBJECTIVES: Presentation of a group of patients with diagnosed malignant ovarian germ cell tumors (MOGCT), determination of prognostic factors and outcome analysis. MATERIAL AND METHODS: We selected patients with diagnosed malignant ovarian germ cell tumors from the patient registry of Cancer Center in Warsaw from 1990 to 2001. We analyzed clinical and pathological features of the study group, as well as methods and results of treatment. RESULTS: We collected documentation of 83 patients. Most were diagnosed with dysgerminoma and immature teratoma in the early stages of development. 73 patients received adjuvant chemotherapy after surgery At the end of the first line of treatment complete response was achieved in 63 patients (75.9%). Time to recurrence ranged from 25 to 518 days (mean 176 days). The most common site of recurrence was the true pelvis. The five-year overall survival was 62.7%. Significant favorable prognostic factor was early stage of disease and the histological diagnosis of dysgerminoma. From the 46 women after fertility-sparing surgery, 8 became pregnant. CONCLUSIONS: MOGCT are a group of potentially curable, yet very aggressive malignant ovarian tumors. The main condition for obtaining good results is quick diagnosis and appropriate treatment, usually surgery associated with multidrug chemotherapy The stage of the disease remains the most important prognostic factor. Patients diagnosed with dysgerminoma are a separate group with very good prognosis.

Excision of extensive metastatic dysgerminoma to control refractory hypercalcaemia in a child at high risk for tumour-lysis syndrome.

Hypercalcaemia is a rare life-threatening complication of paediatric cancer that is commoner in haematological than solid malignancies and associated rarely with acute renal failure. Often refractory to medical therapy, control of hypercalcaemia in children with solid tumours may necessitate excision of localised tumours or urgent chemotherapy for metastatic ones. We present a child with refractory hypercalcaemia, bulky chemosensitive metastatic tumours and acute renal failure in whom chemotherapy posed high-risk of tumour lysis syndrome (TLS). Resection of the metastatic tumours successfully normalised the hypercalcaemia and represents a practical alternative control strategy in cases at high risk of TLS.

Atypical presentation and management dilemma of mixed gonadal dysgenesis.

OBJECTIVE: To describe a case of 45,X/46,XY mixed gonadal dysgenesis complicated by malignancy with possible metastasis. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 15-year-old female with primary amenorrhea, short stature, and a vaginal septum. INTERVENTION(S): Resection of transverse vaginal septum and laparoscopic bilateral gonadectomy. RESULT(S): The patient had dysgerminoma arising from gonadoblastoma in the left gonad and gonadoblastoma in the right gonad. No normal gonadal tissue could be identified. Postoperative computed tomography scan results were suspicious for lung metastases, but the patient opted for conservative management without chemotherapy. CONCLUSION(S): Mixed gonadal dysgenesis involves inherent malignancy risk and complex psychosocial issues, which necessitate a multidisciplinary approach to diagnosis and treatment.

FDG-PET probe-guided surgery for recurrent retroperitoneal testicular tumor recurrences.

AIM: Tumor marker based recurrences of previously treated testicular cancer are generally detected with CT scan. They sometimes cannot be visualized with conventional morphologic imaging. FDG-PET has the ability to detect these recurrences. PET probe-guided surgery, may facilitate the extent of surgery and optimize the surgical resection. METHODS: Three patients with resectable 2nd or 3rd recurrent testicular cancer based on elevated tumor markers after previous various chemotherapy schedules and resections of residual retroperitoneal tumor masses were included in this study. A diagnostic FDG-PET was performed and a hotspot in previously operated area of the retroperitoneal space in all three patients was visualized. PET probe-guided surgery was performed using a high-energy gamma probe 3 h post-injection of 500 MBq FDG. RESULTS: All patients showed extended adhesions and scar tissue in the retroperitoneal area due to the previous surgeries. Pre-operative PET/CT scan showed a good correlation with intra-operative PET probe-guided detection of recurrent lesions. There was a high target to background ratio (TGB) of 5:1 during the procedure. In one patient, a 2 cm large lesion, which did not show on pre-operative FDG-PET scan, was detected with the PET probe. Histopathologic tissue evaluation demonstrated recurrent vital tumor in all PET probe positive lesions. CONCLUSIONS: PET probe-guided surgery seems to be a promising tool to localize FDG-PET positive lesion in recurrent testicular cancer in hardly accessible surgical locations. PET probe-guided surgery might be a useful technique in surgical oncology for recurrent testicular cancer and has the potential to be applied in surgery of other malignant diseases.

Para-aortic lymph node metastasis in malignant dysgerminoma of the ovary.

Dysgerminomas comprise approximately 2-5% of all ovarian malignancies and mostly affect young adolescent women. Primary comprehensive surgery and adjuvant chemotherapy consisting of bleomycin, etoposide, and cisplatin (BEP) are the current recommended treatment options, the latter reserved for advanced stages (FIGO II-IV). We report two patients aged 20 and 26 years who presented with an initial FIGO stage IA, but inadequately assessed. Both were subsequently diagnosed with recurrent malignant dysgerminoma and para-aortic lymph node metastasis. Neither had received comprehensive staging at initial surgery nor adjuvant radio or chemotherapy. Both needed extensive surgery and multiagent chemotherapy for survival and belong to the small percentage of FIGO IA dysgerminoma patients showing a relapse. Comprehensive initial surgery including systematic para-aortic lymphadenectomy and adjuvant chemotherapy at tertiary referral centers is needed to minimize the treatment burden.

Nodular lung schistosomiais lesions after chemotherapy for dysgerminoma.

We report an unusual case of pulmonary schistosomiasis in a traveler to Mali that was diagnosed 16 months after primary infection, one month after she finished chemotherapy for a malignant tumor. Serologic analysis showed marked eosinophilia. Our case emphasizes the need to detect parasitic infections in cancer patients with unexplained eosinophilia, particularly in immigrants and travelers to tropical countries.

Expanding the clinical spectrum of Frasier syndrome.

Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature available on the precise spectrum and recommended treatment modalities of this syndrome. We present the clinicopathological findings in 4 patients: 3 phenotypically female adolescents presenting with proteinuria and primary amenorrhea and a 6-month-old baby girl presenting with nephrotic syndrome in whom this very unusual case of early onset was confirmed by molecular studies. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome is reviewed and discussed. Our observation of a case presenting with early clinical manifestations, in contrast with the classical presentation in adolescence, justifies the expansion of the clinical spectrum of Frasier syndrome and contributes to the understanding and appropriate clinical management of these patients.

Dysgerminoma in a patient with a tumor of the neck. Empiric treatment of stage IV dysgerminoma.

The evolution of therapy for malignant ovarian germ cell tumors is one of the true success stories in oncology. Treatment outcome has improved greatly thanks to cisplatin-based combination chemotherapy. According to the well-established treatment guidelines for advanced cases, we treated a case of stage IV undifferentiated germ cell tumor in which we were able to preserve the patient's fertility. We concluded that the PEP regimen is an effective treatment for the patient with metastatic germ cell tumor.

Intracranial metastases from an ovarian dysgerminoma in a 2-year-old dog.

A 2-year-old, intact female rottweiler was presented for signs of lethargy. A mass was ultrasonographically observed, cranial and lateral to the left kidney. Exploratory laparotomy revealed a mass in the left ovary that was diagnosed histopathologically as an ovarian dysgerminoma. Two weeks after surgery, the dog was readmitted with signs of peripheral vestibular disease that progressed to central vestibular disease. Magnetic resonance imaging of the brain revealed the presence of a mass in the caudal fossa. The histopathological diagnosis of the mass was metastases from the ovarian dysgerminoma.

Isolated duodeno-pancreatic involvement due to metastatic dysgerminoma ovary and its management by a modified pancreatico-duodenal resection.

Dysgerminomas of the ovary rarely metastasize to abdominal viscera and when they do, the involvement is a part of a disseminated disease. A 30-year-old woman developed isolated duodenopancreatic dysgerminoma 14 years after salpingo-oophorectomy. The clinical picture was complicated by the presence of tuberculous lesions in the liver which mimicked metastatic disease. Surgical excision was carried out using a modified pancreatic head resection.

Ovarian dysgerminoma with massive metastases to para-aortic lymph nodes.

We report on a 15-year-old female with left ovarian dysgerminoma accompanied by massive swelling of the para-aortic lymph nodes which was clearly demonstrated by preoperative magnetic resonance imaging (MRI). Metastasis to the para-aortic lymph nodes from dysgerminoma was confirmed by biopsies obtained during surgery. No study has previously reported dysgerminoma with massive para-aortic lymph node metastases clearly demonstrated by MRI. These preoperative MRI findings are presented here. The patient received six cycles of cisplatin-based combination chemotherapy with the BEP regimen (bleomycin, etoposide and cisplatin) after conservative surgery, and no residual para-aortic lymph nodes were detected by MRI or CT after the chemotherapy.

Paclitaxel and cisplatin as salvage treatment in patients with non-seminomatous germ cell tumour who failed to achieve a complete remission on induction chemotherapy.

The purpose of this study was to evaluate the efficacy and toxicity of paclitaxel and cisplatin combination chemotherapy as salvage treatment in patients with non-seminomatous germ cell tumour. Sixteen patients with histologically proven germ cell tumour, measurable disease and/or elevated serum tumour markers were eligible for the protocol. All patients had previously not achieved a complete remission (CR) to platinum-based induction chemotherapy and cytoreductive surgery. The treatment consisted of paclitaxel 175-225 mg/m2 as a 3-hour infusion, followed by cisplatin 100 mg/m2, repeated every 3 weeks for up to four cycles. Seven patients achieved a marker-positive partial remission (PR) by the end of the cisplatin-based induction chemotherapy; the remainder had disease progression at the start of the paclitaxel plus cisplatin treatment. One (6%) CR and 3 (19%) PRs were achieved, with an overall response rate of 25% (90% confidence interval 7-43). The duration of the CR is currently 9+ months; two PRs lasted 2 months. One patient with a PR has been lost to follow-up. During a median follow-up of 8 months (range 1-11), 12 patients died from the disease progression. The median survival for the whole group was 7 months. Toxicity was moderate, with neutropenia grade 3 occurring in 29% of patients, thrombocytopenia grade 1-3 in 29%, creatinine > 130 mmol/l in 36%, peripheral neuropathy grade 1-2 in 50%, and nausea and vomiting in 43%. Paclitaxel plus cisplatin showed modest activity, with an overall response rate of 31% in patients with poor prognosis who had not achieved a CR on induction chemotherapy.