Dermoscopic features of melanomas associated with<i>MC1R</i>variants in Spanish<i>CDKN2A</i>mutation carriers

Cuéllar, Francisco; Puig, Susana; Kolm, Isabel; Puig‐Butillé, J.A.; Zaballos, Pedro; Martí-Laborda, R.M.; Badenas, Cèlia; Malvehy, Josep

doi:10.1111/j.1365-2133.2008.08826.x

Cited by 53 publications

(59 citation statements)

References 27 publications

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“…A report on the dermoscopic features of primary melanomas in nine high-risk CDKN2A mutation carrier patients from the Spanish population found that the mean ABCD total dermoscopy score was significantly higher in those with MC1R non-RHC genotype (Cuellar et al, 2009) compared with those who carried two MC1R RHC variant alleles. Although the melanomas in CDKN2A patients homozygous for MC1R RHC alleles were more difficult to diagnose, with less color and fewer structures, atypical vessels were observed.…”

Section: Discussionmentioning

confidence: 98%

Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients

Sturm

Fox

McClenahan

et al. 2014

Journal of Investigative Dermatology

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A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.

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Section: Discussionmentioning

confidence: 98%

Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients

Sturm

Fox

McClenahan

et al. 2014

Journal of Investigative Dermatology

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“…From our own experience, we are of the opinion that the pigmented lesions in many of these high-risk patients are more difficult to diagnose because many of their benign nevi manifest clinical and/or dermoscopic features of melanoma or their melanomas manifest subtle features that make their detection a challenge. Cuellar et al recently reported that in fair-skinned individuals early melanomas can be difficult to diagnose [20]. Thus, the MelaFind® database is biased towards lesions with a higher degree of diagnostic difficulty as compared to lesions encountered in the setting of a general dermatology office.…”

Section: Discussionmentioning

confidence: 99%

Agreement of Dermatopathologists in the Evaluation of Clinically Difficult Melanocytic Lesions: How Golden Is the ‘Gold Standard’?

et al. 2012

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Background: The ‘gold standard’ for the diagnosis of melanocytic lesions is dermatopathology. Although most of the diagnostic criteria are clearly defined, the interpretation of histopathology slides may be subject to interobserver variability. Objectives: The aim of this study was to determine the variability among dermatopathologists in the interpretation of clinically difficult melanocytic lesions. Methods: This study used the database of MelaFind®, a computer-vision system for the diagnosis of melanoma. All lesions were surgically removed and sent for independent evaluation by four dermatopathologists. Agreement was calculated using kappa statistics. Results: A total of 1,249 pigmented melanocytic lesions were included. There was a substantial agreement among expert dermatopathologists: two-category kappa was 0.80 (melanoma vs. non-melanoma) and three-category kappa was 0.62 (malignant vs. borderline vs. benign melanocytic lesions). The agreement was significantly greater for patients ≥40 years (three-category kappa = 0.67) than for younger patients (kappa = 0.49). In addition, the agreement was significantly lower for patients with atypical mole syndrome (AMS) (kappa = 0.31) than for patients without AMS (kappa = 0.76). Limitations: The data were limited by the inclusion/exclusion criteria of the MelaFind® study. This might represent a selection bias. The agreement was evaluated using kappa statistics. This is a standard method for evaluating agreement among pathologists, but might be considered controversial by some statisticians. Conclusions: Expert dermatopathologists have a high level of agreement when diagnosing clinically difficult melanocytic lesions. However, even among expert dermatopathologists, the current ‘gold standard’ is not perfect. Our results indicate that lesions from younger patients and patients with AMS may be more problematic for the dermatopathologists, suggesting that improved diagnostic criteria are needed for such patients.

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“…This finding may confirm the presence of a correlation between genetic background and the clinical and dermoscopic appearance of melanocytic lesions, as already found in previous studies. In particular, Cuéllar et al [7] evaluated the possibility of a correlation between particular dermoscopic patterns and variants of the MC1R gene, a gene responsible for much of the diversity in human pigmentation due to its important role in determining the ratio of eumelanin and pheomelanin production. They found that the mean ABCD total dermoscopy score of the suspect melanocytic lesions excised was significantly higher in noncarriers of red hair MC1R polymorphisms than in carriers of two MC1R gene red hair variants.…”

Section: Discussionmentioning

confidence: 99%

Dermoscopy of Melanocytic Lesions in Patients Affected by Oculocutaneous Albinism: A Case Series

Caldarola¹,

Fania²,

Fossati³

et al. 2013

Dermatology

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Background: Although the majority of skin cancers in albino patients consists of squamous and basal cell carcinomas, malignant melanomas have also been described, albeit less frequently. Objective: The aim of our study was to evaluate melanocytic lesions in albino patients to look for any recurrent dermoscopic pattern. Methods: We enrolled 12 consecutive albino patients presenting to our department and examined each patient for the presence of melanocytic nevi with the unaided eye and then with dermoscopy. Melanocytic lesions with suspicious clinical or dermoscopic features were excised and histopathologically evaluated. Results: Analysis of the recorded images permitted us to find two main dermoscopic patterns in this group of patients. The first one was represented by a homogeneous light-brown yellowish pattern associated with comma-like and dotted vessels; the second one consisted of a classical brown reticular pattern frequently associated with central depigmentation and with comma-like vessels. Moreover, based on some atypical dermoscopic features, in 2 patients we excised 3 melanomas in situ (in the same patient) and a thick melanoma (3.2 mm). Conclusions: Dermoscopy may represent a useful tool for the evaluation of melanocytic lesions in albino patients, permitting an early diagnosis of melanoma.

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Dermoscopic features of melanomas associated withMC1Rvariants in SpanishCDKN2Amutation carriers

Cited by 53 publications

References 27 publications

Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients

Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients

Agreement of Dermatopathologists in the Evaluation of Clinically Difficult Melanocytic Lesions: How Golden Is the ‘Gold Standard’?

Dermoscopy of Melanocytic Lesions in Patients Affected by Oculocutaneous Albinism: A Case Series

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