International Ovarian & Testicular Stromal Tumor Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- DICER1 mutations in ovarian and testicular stromal tumors
研究概览
简要总结
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
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •Unable to provide informed consent/assent
- •Adult Granulosa cell tumor (unless otherwise specified by Medical Director)
结局指标
主要结局
DICER1 mutations in ovarian and testicular stromal tumors
时间窗: 3 years
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.
次要结局
- Clinical factors associated with outcome in ovarian and testicular stromal tumors(10 years)
- Pathologic and Genetic Correlations(5 years)
研究者
Kris Ann Schultz
Kris Ann P. Schultz, MD, MS
Children's Hospitals and Clinics of Minnesota