Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

Ribero, Simone; Carrera, Cristina; Tell‐Martí, Gemma; Pastorino, Carlotta; Badenas, Cèlia; García, Adriana; Malvehy, Josep; Puig, Susana

doi:10.1111/bjd.15687

Cited by 10 publications

(11 citation statements)

References 7 publications

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“…We found only one patient with malignant melanoma and another patient reporting previous melanoma, despite the presence of nevi in 51.4% of the patients. Those findings may be due to the overall young age of our population, but are also corroborated by the literature, since melanoma in OCA is rarely described in albino patients 18,19 .…”

Section: Discussionsupporting

confidence: 89%

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Ramos

Fernandes

2021

Rev. Assoc. Med. Bras.

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OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims:To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer.METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS:Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions.Limitations: Unicentric, non-aleatory sample.CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

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Section: Discussionsupporting

confidence: 89%

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Ramos

Fernandes

2021

Rev. Assoc. Med. Bras.

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“…In total, 62 articles were included in this systematic review, reporting on 433 melanoma cases. Of these articles, 30 reported on amelanotic melanoma (275 cases), 6 on animal-type or pigmented epithelioid melanocytoma (PEM) (7 cases), 4 on balloon cell melanoma (5 cases), 4 on desmoplastic melanoma (66 cases), 1 on follicular melanoma (1 case), 4 on nested melanoma (6 cases), 5 on nevoid melanoma (31 cases), 1 on primary dermal melanoma (1 case), 3 on spitzoid melanoma (28 cases), and 4 on verrucous melanoma (4 cases) . One study reported both amelanotic and spitzoid melanoma cases .…”

Section: Resultsmentioning

confidence: 99%

Clinical and Dermoscopic Features Associated With Difficult-to-Recognize Variants of Cutaneous Melanoma

et al. 2020

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The clinical and dermoscopic features of the vast majority of uncommon variants of cutaneous melanoma have been rarely reported, leading to difficulty in making accurate diagnoses.OBJECTIVE To define the main clinical and dermoscopic features of the most frequently reported but uncommon histologic variants of cutaneous melanoma.EVIDENCE REVIEW A 2-step systematic review of the literature was performed (from inception to November 2018) using PubMed, Embase, and Cochrane Central Register of Controlled Trials databases. The first step identified those uncommon variants of melanoma for which at least 1 case reporting dermoscopy was described in the literature. The keywords searched were melanoma, uncommon, rare, dermoscopy, and dermatoscopy. In the second step, each previously identified uncommon variant was searched for in the same databases by combining the following terms with melanoma, dermoscopy, and dermatoscopy: amelanotic, hypopigmented, animal, melanocytoma, balloon, desmoplastic, follicular, nested, nevoid, dermal, spitz*, spindle, and verrucous. The institution's database was also searched from January 2012 to September 2019 for histopathologically confirmed cases of the same melanoma variants. Each reviewer also assessed the quality of reporting in the included articles based on previously described guidelines.FINDINGS In total, 62 articles met the inclusion criteria, reporting 433 melanoma cases. An additional 56 cases of uncommon melanoma variants were retrieved from the institution's database for a total of 489 cases: 283 cases of amelanotic superficial spreading melanoma, 18 cases of animal-type and pigmented epithelioid melanocytoma, 7 cases of balloon cell melanoma, 71 cases of desmoplastic melanoma, 3 cases of follicular melanoma, 10 cases of nested melanoma, 33 cases of nevoid melanoma, 2 cases of primary dermal melanoma, 57 cases of spitzoid melanoma, and 5 cases of verrucous melanoma. These variants of melanoma occurred more frequently in women than men (147 cases vs 132 cases). Clinically, these tumors were mainly palpable (162 of 217 [74.7%]) or amelanotic (283 of 489 [57.9%]) lesions that could resemble other benign or malignant skin conditions; dermoscopy typically revealed a homogeneous pinkish background, white structures, and polymorphic vessels. The mean age of all included was 58 years (range, 1-89 years).CONCLUSIONS AND RELEVANCE Uncommon melanoma variants may resemble both inflammatory disorders and other cutaneous neoplasms, representing a diagnostic pitfall even for the most experienced dermatologist. The purpose of this systematic review was to provide an extensive and detailed overview of specific clinical and dermoscopic features of each uncommon melanoma variant, highlighting the main criteria for differentiating these variants from other benign or malignant skin lesions.

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“…Although melanoma in albinism patients is rare, it is almost invariably presents as amelanotic melanoma as seen in TYR-mutated OCA1 patients [55]. Deleterious variants in TYR/ OCA1 were more common in AHM melanoma cases than in PM cases and the same was true for the OCA2 hypomorphic allele p.V443I.…”

Section: Discussionmentioning

confidence: 95%

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

et al. 2020

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Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. Exome sequencing was available for 28 individuals with amelanotic/ hypomelanotic melanoma and 303 individuals with pigmented melanoma, which were compared to whole exome data from 1144 Australian controls. Microarray genotyping was available for a further 17 amelanotic/hypomelanotic melanoma, 86 pigmented melanoma, 147 melanoma cases (pigmentation unknown) and 652 unaffected controls. Rare deleterious variants in TYR/OCA1 were more common in amelanotic/hypomelanotic melanoma cases than pigmented melanoma cases (set mixed model association tests P = 0.0088). The OCA2 hypomorphic allele p.V443I was more common in melanoma cases (1.8%) than controls (1.0%, X 2 P = 0.02), and more so in amelanotic/hypomelanotic melanoma (4.4%, X 2 P = 0.007). No amelanotic/hypomelanotic melanoma cases carried an eye and skin darkening haplotype of OCA2 (including rs7174027), present in 7.1% of pigmented melanoma cases (P = 0.0005) and 9.4% controls. Variants in TYR and OCA2 may play a role in amelanotic/ hypomelanotic melanoma susceptibility. We suggest that somatic loss of function at these loci could contribute to the loss of tumor pigmentation, consistent with this we found a higher rate of somatic mutation in TYR/OCA2 in amelanotic/hypomelanotic melanoma vs pigmented melanoma samples (28.6% vs 3.0%; P = 0.021) from The Cancer Genome Atlas Skin Cutaneous Melanoma collection.

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Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

Cited by 10 publications

References 7 publications

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Clinical and Dermoscopic Features Associated With Difficult-to-Recognize Variants of Cutaneous Melanoma

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

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