International Ovarian & Testicular Stromal Tumor Registry

Study Overview
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Brief Summary
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Rare tumors are understudied, yet have the potential to shed light on vast areas of cancer research. Ovarian sex cord-stromal tumors, rare tumors of childhood and young adulthood, have recently been found to be associated with a lung cancer of early childhood called pleuropulmonary blastoma (PPB). The cause of these ovarian tumors is unknown. DICER1 mutations are seen in the majority of children with PPB. Research shows DICER1 mutations are also seen in some patients with ovarian tumors. Like PPB, ovarian stromal tumors are highly curable when found in early stage; however, later forms of the disease are aggressive and often fatal. The International Ovarian Stromal Tumor Registry collects clinical and biologic data to understand why these tumors occur and how to treat them. Current work involves the study of the role of DICER1 and miRNA expression in ovarian stromal tumors. Understanding the clinical history, predisposing factors and DICER1 and miRNA expression in these ovarian tumors of childhood will lead to targeted screening and risk stratification for evidence-based treatment and biologically rational therapies. These efforts will improve the lives of children by increasing survival and reducing late effects. The specific goals of the International Ovarian and Testicular Stromal Tumor Registry are: to understand risk factors by studying age, pathologic subtype, histopathologic features, tumor invasiveness, degree of differentiation, presence of metastasis to collect information on personal and family history in order to refine the clinical characteristics of patients and families with and without germline DICER1 mutations and other genetic predisposing factors to determine whether there is a pattern of gene expression or DNA alterations that correlate with predisposition to ovarian tumors, biologic behavior and clinical outcome to determine optimal screening regimens to use clinical data obtained through the Registry to refine treatment algorithms to establish a collection of annotated biology specimens (tumor tissue and germline DNA) for future research

Detailed Description
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The Registry collects and analyzes case-by-case data on ovarian and testicular stromal tumors. Cases are identified: by referrals from clinicians or pathologists by families initiating contact with the Registry by Registry requests to authors of published cases to share further details The data collected include: clinical and laboratory findings family history imaging studies surgery records pathology records including review and study of pathology materials treatment (surgery, chemotherapy, radiation) recurrences or metastases long-term follow-up The demographic and clinical data are abstracted into a database secured by password protection. Each record in the database has a unique Registry number. Enrollment in the OTST Registry is based on local diagnosis, but central pathology review is offered as a part of Registry procedures. For each patient enrolled, the Registry will request 1) whole blood for DNA extraction and lymphoblastoid cell line generation 2) slides or snap frozen tumor tissue (if available), 3) paraffin blocks and/or scrolls and 4) fresh tissue. In some cases, saliva samples, buccal swabs or urine samples will be obtained for DNA extraction. Pathology materials are centrally reviewed when available. Any discrepancies in the diagnostic interpretation are discussed with the submitting pathologist or clinician. When the central review pathologist cannot confirm diagnosis of a stromal tumor, the referring physician is notified. The local pathologist retains responsibility for the final pathological diagnosis. It is the responsibility of the referring physician to notify the patient regarding any discrepancy found. Biologic specimens will be banked and stored for future research.

Official Title
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International Ovarian & Testicular Stromal Tumor Registry

Conditions
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Ovarian Sex-cord Stromal Tumor, Testicular Stromal Tumors, Ovarian Small Cell Carcinoma

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Previous or current diagnosis of an ovarian sex cord stromal including but not limited to: Sertoli-Leydig cell tumor, gynandroblastoma (now enrolling these patients on PPB/DICER1 Registry), juvenile granulosa cell tumor, Sertoli cell tumor, sex cord-stromal tumor with annular tubules or undifferentiated stromal tumor Previous or current diagnosis of a testicular stromal tumor including but not limited to: juvenile granulosa cell tumor, Sertoli cell tumor, Leydig cell tumor or undifferentiated stromal tumor Exclusion Criteria: Unable to provide informed consent/assent Adult Granulosa cell tumor (unless otherwise specified by Medical Director)

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ovarian Stromal Tumors<br> | |
| Testicular Stromal Tumors<br> | |
| Ovarian Small Cell Carcinoma<br> | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| DICER1 mutations in ovarian and testicular stromal tumors | We will analyze germline DNA from patients with gonadal stromal tumors to determine the presence of DICER1 mutations. The tumor tissue will also be sequenced. mRNA and miRNA expression will be analyzed on tumor tissue. Results of the above will be correlated with clinical outcome. | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Clinical factors associated with outcome in ovarian and testicular stromal tumors | We will analyze the clinical records to determine which factors influence prognosis | 10 years | 
| Pathologic and Genetic Correlations | We will correlate the pathologic and genetic data with clinical data to describe factors associated with poor prognosis. | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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juvenile granulosa cell tumor, ovarian, testicular, stromal, sertoli, leydig, gynandroblastoma