Clinical characteristics and management of melanoma families

Being a member of a melanoma family is a major risk factor for cutaneous malignant melanoma. In this thesis clinical characteristics and management of melanoma families are discussed. In the first part of the thesis clinical and histological characteristics of melanoma (patients) from families with a (p16-Leiden) mutation in the high penetrance melanoma susceptibility gene CDKN2A were compared with the general population. Significant differences with respect to several characteristics are reported. In the second part of the thesis the yield, effectiveness, and causes for failure of surveillance of melanoma families are discussed. We report that surveillance is associated with a more favorable tumor stage. Several aspects of surveillance, including interval melanomas, surveillance interval, noncompliance, and overdiagnosis are discussed. Based on analyses of melanoma detection rates in families with different family and genetic characteristics, we propose a risk stratification for members of melanoma families. In the third part of the thesis we investigate the impact of dermoscopy on management decisions. It is demonstrated that dermoscopy by dermoscopy experts in the setting of melanoma family surveillance resulted in a considerable reduction of unnecessary excisions. This effect was considerably less in the setting of dermoscopy non-experts examining patients in general dermatology clinics.UBL - phd migration 201

The impact of dermoscopy on the management of pigmented lesions in everyday clinical practice of general dermatologists: a prospective study

Background Dermoscopy greatly improves the clinical diagnosis of pigmented lesions. Few studies have investigated, however, how dermoscopy is guiding management decisions in everyday clinical practice. In addition, most studies have been performed in the setting of dermoscopy experts working in pigmented lesion clinics. Objectives To assess the impact of dermoscopy on clinical diagnosis and management decisions for pigmented lesions in everyday practice of general dermatologists. Methods We performed a prospective study in general dermatology clinics in community hospitals run by dermatologists with intermediate dermoscopy experience and expertise. Each clinician independently included suspicious lesions from consecutive patients. Pre- and postdermoscopy diagnoses and management decisions were recorded. Pathology was used as reference diagnosis. Results In total, 209 suspicious lesions were included in the study by 17 dermatologists. Fourteen lesions were histologically proven in situ or invasive malignant melanomas. Based on clinical diagnoses, dermoscopy improved sensitivity from 0.79 to 0.86 (P = 1 0). All 14 melanomas were intended to be excised based on naked eye examination alone, independent of dermoscopic evaluation. Specificity increased from 0.96 to 0.98 (P = 0 22). Dermoscopy resulted in a 9% reduction of the number of excisions. Conclusions Dermoscopy reduced the number of excisions, but did not improve the detection of melanomas. Our results suggest that in everyday clinical practice of general dermatologists the main contribution of dermoscopy is a reduction of unnecessary excisions.Dermatology-oncolog

Impact of Dermoscopy on the Management of High-risk Patients From Melanoma Families: A Prospective Study

Few studies have investigated the impact of dermoscopy on the management of relatives from melanoma families. The objective of this study was to assess the impact of dermoscopy on clinical diagnosis and management decisions in high-risk familial melanoma patients. In a prospective study 132 consecutive patients were recruited from the pigmented lesions clinic of a tertiary reference centre for familial melanoma. Dermatologists expert in dermoscopy identified 49 suspicious pigmented lesions and recorded pre- and post-dermoscopy diagnoses and management decisions. Dermoscopy was performed in 37% of the patients. Two melanomas were identified. Dermoscopy did not influence sensitivity (1.0), but resulted in 42% fewer excisions, increasing specificity from 0.53 to 0.74 (p = 0.031). Dermoscopy resulted in a large reduction in the number of unnecessary excisions. These results suggest that the main effect of dermoscopy in clinical practice for this high risk population is a significant increase in specificity, rather than sensitivity

Iatrogenic melanoma. Comment on: Melanoma epidemic: a midsummer night's dream?

Dermatology-oncolog

Increasing time trends of thin melanomas in The Netherlands: What are the explanations of recent accelerations?

Dermatology-oncolog

Melanocortin 1 Receptor (MC1R) Variants in High Melanoma Risk Patients are Associated with Specific Dermoscopic ABCD Features

Hereditary cancer genetic

Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A

Background: About 10% of cutaneous malignant melanomas (CMM) occur in individuals with a family history of melanoma. In 20% to 40% of melanoma families germline mutations in CDKN2A are detected. Knowledge of the clinicohistologic characteristics of melanomas and patients from these families is important for optimization of management strategies, and may shed more light on the complex interplay of genetic and environmental factors in the pathogenesis of melanoma. Objective: We sought to investigate the clinical and histologic characteristics of CMM in CDKN2A-mutated Methods: Clinical and histologic characteristics of 182 patients with 429 CMM from families with a founder mutation in CDKN2A (p16-Leiden mutation) were compared with 7512 patients with 7842 CMM from a population-based cancer registry. Results: Patients with p16-Leiden had their first melanoma 15.3 years younger than control patients. The 5-year cumulative incidence of second primary CMM was 23.4% for patients with p16-Leiden compared with 2.3% for control patients. The risk of a second melanoma was twice as high for patients with p16-Leiden who had their first melanoma before age 40 years, compared with older patients with p16-Leiden. Unlike control patients, there was no body site concordance of the first and second melanoma in patients with p16-Leiden and multiple primary melanomas. Patients with p16-Leiden had significantly more superficial spreading, and less nodular and lentiginous melanomas. Limitations: Ascertainment of patients with p16-Leiden was family based. The study was performed in families with a founder mutation, the p16-Leiden mutation. Conclusion: Our findings are consistent with a pathogenic pathway of melanoma development from nevi, starting early and ongoing throughout life, and not related to chronic sun exposure. (J Am Acad Dermatol 2011;65:281-8.)Dermatology-oncolog

Lack of association between CDKN2A germline mutations and survival in patients with melanoma: A retrospective cohort study

Development and application of statistical models for medical scientific researc

Lack of association between CDKN2A germline mutations and survival in patients with melanoma: A retrospective cohort study

Development and application of statistical models for medical scientific researc