PDF(Sci-hub)
Abstract：
Desmoid tumors are locally invasive sarcoma, affecting 5-6 individuals out of 1,000,000 per year. The desmoid tumors have high rates of recurrence after resection and can lead to significant deterioration of the quality of life of patients. There is a need for a better understanding of the desmoid tumors\' patient experience from first symptoms through diagnosis, disease monitoring, and clinical treatment options. With the National Organization of Rare Disorders, the Desmoid Tumor Research Foundation Natural History Study was designed to be collected through the registry. This article describes the protocol for the Desmoid Tumor Research Foundation Natural History Study and some initial findings. The Desmoid Tumor Research Foundation Natural History Study Advisory Committee developed a series of questionnaires and longitudinal surveys, in addition to those from the National Organization of Rare Disorders for all of the rare diseases. These 13 surveys are designed to uncover initial symptoms, diagnosis process, disease monitoring, quality of life, treatments, as well as socioeconomic information. Since launching the Desmoid Tumor Research Foundation Registry and Natural History Study (https://dtrf.iamrare.org), more than 300 desmoid tumor patients have consented to the Desmoid Tumor Research Foundation Natural History Study and completed the Participant Profile. The majority of the respondents are between the ages of 21 and 50 years (76%), female (81.2%), White (91.5%), and live in the United States (47.1%). The majority of tumors are in the lower or upper extremity, (22.9%) followed closely by abdominal desmoid tumors (21.5%). Most are willing to donate specimens (89.9%) and participate in trials (97.2%). Ongoing efforts are addressing the demographic differences between the respondents and non-respondents and any selection bias based on access to the registry and study. The Desmoid Tumor Research Foundation Natural History Study is built on the largest desmoid tumors registry and has recruited more desmoid tumors participants since launching in September 2017. It will serve to fill desmoid tumors knowledge gaps and assist other researchers in their recruitment efforts for additional studies.
摘要：
纤维瘤是局部浸润性肉瘤,每年影响1,000,000中的5-6个人。纤维瘤切除术后复发率高，可导致患者生活质量显著恶化。从最初的症状到诊断，需要更好地了解纤维瘤患者的经历，疾病监测,和临床治疗选择。全国罕见疾病组织，纤维瘤研究基金会自然史研究旨在通过注册表进行收集。本文介绍了Desmoid肿瘤研究基金会自然史研究的方案和一些初步发现。骨样肿瘤研究基金会自然史研究咨询委员会编制了一系列问卷调查和纵向调查,除了来自国家罕见疾病组织的所有罕见疾病。这13项调查旨在揭示最初的症状，诊断过程,疾病监测,生活质量,治疗,以及社会经济信息。自启动Desmoid肿瘤研究基金会注册和自然史研究（https://dtrf。iamrere.org),300多名纤维瘤患者已同意纤维瘤研究基金会自然史研究，并完成了参与者简介。大多数受访者年龄在21至50岁之间(76%)，女性（81.2%），白色（91.5%），居住在美国（47.1%）。大多数肿瘤在下肢或上肢，（22.9%）紧随其后的是腹部硬纤维瘤（21.5%）。大多数人愿意捐赠标本（89.9％）并参加试验（97.2％）。正在进行的努力正在解决受访者和非受访者之间的人口统计学差异以及基于访问注册表和研究的任何选择偏见。纤维瘤研究基金会自然历史研究建立在最大的纤维瘤注册基础上，自2017年9月启动以来，招募了更多的纤维瘤参与者。它将有助于填补硬纤维瘤的知识空白，并协助其他研究人员招募其他研究人员。
