Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: International Ovarian & Testicular Stromal Tumor Registry

Summary: 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:
  1. to understand risk factors by studying age, pathologic subtype, histopathologic features, tumor invasiveness, degree of differentiation, presence of metastasis
  2. 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
  3. 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
  4. to determine optimal screening regimens
  5. to use clinical data obtained through the Registry to refine treatment algorithms
  6. to establish a collection of annotated biology specimens (tumor tissue and germline DNA) for future research

Detailed description: The Registry collects and analyzes case-by-case data on ovarian stromal tumors. Cases are identified:
  1. by referrals from clinicians or pathologists
  2. by families initiating contact with the Registry
  3. by Registry requests to authors of published cases to share further details
  The data collected include:
  1. clinical and laboratory findings
  2. family history
  3. imaging studies
  4. surgery records
  5. pathology records including review and study of pathology materials
  6. treatment (surgery, chemotherapy, radiation)
  7. recurrences or metastases
  8. 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. DICER1 testing is facilitated.
  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), and 3) paraffin blocks. 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.
  Participants interested in DICER1 testing arrange for phlebotomy services with their physicians. Biologic specimens will be banked and stored for future research.

Eligibility: Inclusion Criteria:
  -  Previous or current diagnosis of an ovarian sex cord stromal including but not limited to: Sertoli-Leydig cell tumor, gynandroblastoma, 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:
  -  No clinical or biologic material available for review
  -  Unable to provide informed consent/assent

Relevance to patient case: not relevant