Department of Pathology and Laboratory Medicine, University of Texas Health Science Center at San Antonio.
Department of Pathology, University of Arkansas for Medical Sciences, Little Rock.
JAMA Netw Open. 2019 Aug 2;2(8):e1910413. doi: 10.1001/jamanetworkopen.2019.10413.
Dermatofibrosarcoma protuberans (DFSP) may have a deceptively benign clinical appearance, including a nonprotuberant presentation. Patients with DFSP often perceive misdiagnoses and delays in receiving a diagnosis. Use of existing, patient-designed Facebook patient support groups (FBSGs) to recruit large numbers of patients with rare diseases may be an effective novel research method.
To collaborate with patients with rare disease through social media and answer questions important to both patients and the medical field, including sources of diagnostic delay, risk of recurrence, and flat presentation of DFSP.
DESIGN, SETTING, AND PARTICIPANTS: A multiple-choice survey created by a team of medical practitioners and patients with DFSP was administered to 214 patients with DFSP or family members from international DFSP FBSGs and a nonprofit foundation patient database via Lime Survey from October 30 to November 20, 2015. The survey asked questions designed to determine risk of recurrence and metastasis, surgical outcomes, sources of diagnostic delay, symptoms of recurrence, number of recurrences, scar size, and number of clinicians seen before biopsy. Statistical analysis was performed from January 1, 2016, to April 1, 2019.
The study goal was to collect at least 200 survey responses.
Of 214 survey respondents (169 females and 45 males; mean [SD] age, 40.7 [12.1] years; range, <1 to 72 years), 199 were patients with DFSP and 15 were family members. Delays occurred between the patient noticing the DFSP lesion and receiving a diagnosis of DFSP (median, 4 years; range, <1 to 42 years). Most patients (112 [52.3%]) believed that they received a misdiagnosis at some point: by dermatologists (35 of 107 [32.7%]), primary care clinicians (80 of 107 [74.8%]), or another type of physician (27 of 107 [25.2%]). The most frequent prebiopsy clinical suspicion included cyst (101 [47.2%]), lipoma (30 [14.0%]), and scar (17 [7.9%]). Many patients first noticed their DFSP as a flat plaque (87 of 194 [44.8%]). Of these lesions, 73.6% (64 of 87) became protuberant eventually. Surgical treatments included Mohs micrographic surgery (56 of 194 [28.9%]), wide local excision (122 of 194 [62.9%]), and conservative excision (16 of 194 [8.2%]). The reported rate of recurrence was 5.4% (3 of 56) for Mohs micrographic surgery, 7.4% (9 of 122) for wide local excision, and 37.5% (6 of 16) for conservative excision. The higher rate of recurrence for conservative excision was significant (P = .001); there was no significant difference in the rate of recurrence between Mohs micrographic surgery and wide local excision (P = .76).
This study reports what appears to be disease-relevant statistics from the largest survey of patients with DFSP to date. Because of the dissonance between the name of the neoplasm and its clinical presentation, the alternative term dermatofibrosarcoma, often protuberant is proposed. This study suggests that FBSGs are useful tools in medical research, providing rapid access to large numbers of patients with rare diseases and enabling synergistic collaborations between patients and medical researchers.
重要性：隆凸性皮肤纤维肉瘤（DFSP）的临床表现可能具有欺骗性，包括非隆凸性表现。DFSP 患者经常会出现误诊和延迟诊断的情况。利用现有的、由患者设计的 Facebook 患者支持小组（FBSG）招募大量患有罕见疾病的患者，可能是一种有效的新研究方法。
目的：通过社交媒体与患有罕见疾病的患者合作，回答对患者和医学界都很重要的问题，包括诊断延迟的原因、复发风险以及 DFSP 的扁平表现。
设计、地点和参与者：一组由医疗从业者和 DFSP 患者组成的团队创建了一个多项选择题调查，通过 LimeSurvey 从 2015 年 10 月 30 日至 11 月 20 日向来自国际 DFSP FBSG 和非营利组织患者数据库的 214 名 DFSP 患者或家属进行了调查。该调查旨在确定复发和转移的风险、手术结果、诊断延迟的原因、复发的症状、复发次数、疤痕大小以及活检前就诊的临床医生数量。统计分析于 2016 年 1 月 1 日至 2019 年 4 月 1 日进行。
主要结果和措施：研究目标是收集至少 200 份调查回复。
结果：在 214 名调查参与者中（169 名女性和 45 名男性；平均[SD]年龄为 40.7[12.1]岁；范围为 1 至 72 岁），199 名为 DFSP 患者，15 名为家属。患者注意到 DFSP 病变到接受 DFSP 诊断之间存在延迟（中位数为 4 年；范围为 1 至 42 年）。大多数患者（112 名[52.3%]）认为他们在某个时候被误诊过：被皮肤科医生误诊（35 名[32.7%]）、初级保健临床医生误诊（107 名[74.8%]）或其他类型的医生误诊（27 名[25.2%]）。最常见的活检前临床怀疑包括囊肿（101 名[47.2%]）、脂肪瘤（30 名[14.0%]）和疤痕（17 名[7.9%]）。许多患者最初注意到他们的 DFSP 是扁平斑块（87 名[44.8%]）。其中 73.6%（64 名[44.8%]）最终隆起。手术治疗包括 Mohs 显微镜手术（56 名[28.9%]）、广泛局部切除术（122 名[62.9%]）和保守切除术（16 名[8.2%]）。报告的复发率为 Mohs 显微镜手术 5.4%（3 名[3.0%]）、广泛局部切除术 7.4%（9 名[9.0%]）和保守切除术 37.5%（6 名[6.0%]）。保守切除术的复发率较高具有显著意义（P=0.001）；Mohs 显微镜手术和广泛局部切除术之间的复发率没有显著差异（P=0.76）。
结论和相关性：本研究报告了迄今为止对 DFSP 患者进行的最大规模调查中似乎与疾病相关的统计数据。由于肿瘤的名称与其临床表现之间存在差异，因此建议使用替代术语“隆起性皮肤纤维肉瘤”。本研究表明，FBSG 是医学研究中的有用工具，可快速获取大量罕见疾病患者的信息，并促进患者和医学研究人员之间的协同合作。
