Detection of primary melanoma in individuals at extreme high risk: a prospective 5-year follow-up study

Moloney, Fergal J., Guitera, Pascale, Coates, Elliot, Haass, Nikolas K., Ho, Kenneth, Khoury, Ritta, O'Connell, Rachel L., Raudonikis, Leo, Schmid, Helen, Mann, Graham J. and Menzies, Scott W. (2014) Detection of primary melanoma in individuals at extreme high risk: a prospective 5-year follow-up study. JAMA Dermatology, 150 8: 819-827. doi:10.1001/jamadermatol.2014.514

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Author Moloney, Fergal J.
Guitera, Pascale
Coates, Elliot
Haass, Nikolas K.
Ho, Kenneth
Khoury, Ritta
O'Connell, Rachel L.
Raudonikis, Leo
Schmid, Helen
Mann, Graham J.
Menzies, Scott W.
Title Detection of primary melanoma in individuals at extreme high risk: a prospective 5-year follow-up study
Journal name JAMA Dermatology   Check publisher's open access policy
ISSN 2168-6068
Publication date 2014-08-01
Year available 2014
Sub-type Article (original research)
DOI 10.1001/jamadermatol.2014.514
Open Access Status File (Publisher version)
Volume 150
Issue 8
Start page 819
End page 827
Total pages 9
Place of publication Chicago IL, United States
Publisher American Medical Association
Language eng
Formatted abstract

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.

Main Outcomes and Measures

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).

Conclusions and Relevance

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.
Keyword Dermatology
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
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