Discipline of Dermatology, University of Sydney at the Sydney Cancer Centre, Sydney, New South Wales, Australia2Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia3Sydney Melanoma Diagnostic Centre, Sydney Cancer Centre, Sydney, New South.
Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia3Sydney Melanoma Diagnostic Centre, Sydney Cancer Centre, Sydney, New South Wales, Australia.
JAMA Dermatol. 2014 Aug;150(8):819-27. doi: 10.1001/jamadermatol.2014.514.
The clinical phenotype and certain predisposing genetic mutations that confer increased melanoma risk are established; however, no consensus exists regarding optimal screening for such individuals. Early identification remains the most important intervention in reducing melanoma mortality.
To evaluate the impact of full-body examinations every 6 months supported by dermoscopy and total-body photography (TBP) on all patients and sequential digital dermoscopy imaging (SDDI), when indicated, on detecting primary melanoma in an extreme-risk population.
DESIGN, SETTING, AND PARTICIPANTS: Prospective observational study from February 2006 to February 2011, with patients recruited from Sydney Melanoma Diagnostic Centre and Melanoma Institute Australia who had a history of invasive melanoma and dysplastic nevus syndrome, history of invasive melanoma and at least 3 first-degree or second-degree relatives with prior melanoma, history of at least 2 primary invasive melanomas, or a CDKN2A or CDK4 gene mutation.
Six-month full-body examination compared with TBP. For equivocal lesions, SDDI short term (approximately 3 months) or long term (≥6 months), following established criteria, was performed. Atypical lesions were excised.
New primary melanoma numbers, characteristics, and cumulative incidence in each patient subgroup; effect of diagnostic aids on new melanoma identification.
In 311 patients with a median (interquartile range [IQR]) follow-up of 3.5 (2.4-4.2) years, 75 primary melanomas were detected, 14 at baseline visit. Median (IQR) Breslow thickness of postbaseline incident melanomas was in situ (in situ to 0.60 mm). Thirty-eight percent were detected using TBP and 39% with SDDI. Five melanomas were greater than 1 mm Breslow thickness, 3 of which were histologically desmoplastic; the other 2 had nodular components. The benign to malignant excision ratio was 1.6:1 for all lesions excised and 4.4:1 for melanocytic lesions. Cumulative risk of developing a novel primary melanoma was 12.7% by year 2, with new primary melanoma incidence during the final 3 years of follow-up half of that observed during the first 2 years (incidence density ratio, 0.43 [95% CI, 0.25-0.74]; P = .002).
Monitoring patients at extreme risk with TBP and SDDI assisted with early diagnosis of primary melanoma. Hypervigilance for difficult-to-detect thick melanoma subtypes is crucial.
临床表型和某些增加黑色素瘤风险的易感性遗传突变已经确定；然而，对于此类人群的最佳筛查方法尚未达成共识。早期发现仍然是降低黑色素瘤死亡率的最重要干预措施。
评估每 6 个月进行一次全身检查，辅以皮肤镜检查和全身摄影（TBP），以及在有侵袭性黑色素瘤病史和发育不良痣综合征、侵袭性黑色素瘤病史且至少有 3 位一级或二级亲属有黑色素瘤病史、至少有 2 次原发性侵袭性黑色素瘤病史或 CDKN2A 或 CDK4 基因突变的情况下，进行序贯数字皮肤镜检查（SDDI）对检测高危人群原发性黑色素瘤的影响。
设计、设置和参与者：这是一项从 2006 年 2 月至 2011 年 2 月进行的前瞻性观察性研究，招募对象来自悉尼黑色素瘤诊断中心和澳大利亚黑色素瘤研究所，他们有侵袭性黑色素瘤病史和发育不良痣综合征、侵袭性黑色素瘤病史且至少有 3 位一级或二级亲属有黑色素瘤病史、至少有 2 次原发性侵袭性黑色素瘤病史或 CDKN2A 或 CDK4 基因突变。
每 6 个月进行一次全身检查与 TBP 相比。对于可疑病变，如果符合既定标准，在短期（约 3 个月）或长期（≥6 个月）内进行 SDDI。对不典型病变进行切除。
每位患者亚组中新原发性黑色素瘤的数量、特征和累积发生率；诊断辅助工具对新黑色素瘤识别的影响。
在中位（四分位间距[IQR]）随访 3.5（2.4-4.2）年的 311 名患者中，发现了 75 例原发性黑色素瘤，其中 14 例在基线检查时发现。基线后新发黑色素瘤的中位（IQR） Breslow 厚度为原位（原位至 0.60mm）。38%通过 TBP 发现，39%通过 SDDI 发现。5 例黑色素瘤的 Breslow 厚度大于 1mm，其中 3 例组织学呈促结缔组织增生型；其余 2 例有结节成分。所有切除的病变的良性到恶性的切除比为 1.6:1，黑素细胞病变为 4.4:1。到第 2 年，新原发性黑色素瘤的累积风险为 12.7%，随访的最后 3 年中新原发性黑色素瘤的发病率是前 2 年的一半（发病率密度比，0.43[95%CI，0.25-0.74]；P=0.002）。
用 TBP 和 SDDI 监测高危患者有助于早期诊断原发性黑色素瘤。对难以发现的厚黑色素瘤亚型保持高度警惕至关重要。
