Congenital melanocytic nevi

Moustafa, Danna; Blundell, Andrew R; Hawryluk, Elena B.

doi:10.1097/mop.0000000000000924

Cited by 26 publications

(20 citation statements)

References 59 publications

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“…The most commonly implicated mutations are in NRAS. Constant monitoring and mole resection by an interdisciplinary team is recommended, and trials are currently evaluating prophylactic MEK inhibitors for CMN patients [ 42 ].…”

Section: Risk Factorsmentioning

confidence: 99%

Epidemiology of Melanoma

Saginala¹,

et al. 2021

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Melanoma accounts for 1.7% of global cancer diagnoses and is the fifth most common cancer in the US. Melanoma incidence is rising in developed, predominantly fair-skinned countries, growing over 320% in the US since 1975. However, US mortality has fallen almost 30% over the past decade with the approval of 10 new targeted or immunotherapy agents since 2011. Mutations in the signaling-protein BRAF, present in half of cases, are targeted with oral BRAF/MEK inhibitor combinations, while checkpoint inhibitors are used to restore immunosurveillance likely inactivated by UV radiation. Although the overall 5-year survival has risen to 93.3% in the US, survival for stage IV disease remains only 29.8%. Melanoma is most common in white, older men, with an average age of diagnosis of 65. Outdoor UV exposure without protection is the main risk factor, although indoor tanning beds, immunosuppression, family history and rare congenital diseases, moles, and obesity contribute to the disease. Primary prevention initiatives in Australia implemented since 1988, such as education on sun-protection, have increased sun-screen usage and curbed melanoma incidence, which peaked in Australia in 2005. In the US, melanoma incidence is not projected to peak until 2022–2026. Fewer than 40% of Americans report practicing adequate protection (sun avoidance from 10 am–4 pm and regular application of broad-spectrum sunscreen with an SPF > 30). A 2-4-fold return on investment is predicted for a US sun-protection education initiative. Lesion-directed skin screening programs, especially for those at risk, have also cost-efficiently reduced melanoma mortality.

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Section: Risk Factorsmentioning

confidence: 99%

Epidemiology of Melanoma

Saginala¹,

et al. 2021

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“…patients have an increased risk to develop melanoma which may appear within the cutaneous CMN lesion or in the central nervous system (Kinsler et al, 2017;Moustafa et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Oncogenic properties via MAPK signaling of the SOX5‐RAF1 fusion gene identified in a wild‐typeNRAS/BRAF giant congenital nevus

Vinyals

Ferreres

Calbet-Llopart

et al. 2022

Pigment Cell Melanoma Res

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We recently reported an RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusion involves the 5′‐end of the promoter‐containing N terminus of the SOX5 gene fused to exons 7–16 of the 3′‐end of RAF1 gene leading to a SOX5‐RAF1 fusion transcript which loses the auto‐inhibitory CR1 domain but retains the complete in‐frame coding sequence for the C‐Terminal kinase domain of the RAF1. Stable expression of SOX5‐RAF1 fusion induced growth factor‐independent cell growth in murine hematopoietic Ba/F3 cells and melan‐a immortalized melanocytes. Besides, it led to the transformation of both Ba/F3 and NIH 3T3 cells as revealed by colony formation assays. Furthermore, its expression results in MAPK activation assessed by increased levels of p‐ERK protein in the cytosol of transduced cells. Treatment with Sorafenib and UO126 inhibited proliferation of Ba/F3‐SOX5‐RAF1 cells in the absence of IL3 but not the PLX 4720, a specific inhibitor of BRAF. Moreover, the tumorigenic and metastatic capacities of SOX5‐RAF1 were assessed in vivo. These results indicate that SOX5‐RAF1, a driver event for CMN development, has oncogenic capacity. Thus, sequencing of CMN transcriptomes may lead to the identification of this druggable fusion and interfere with the progression toward melanoma.

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“…Of the complications seen in previous studies, the most serious and rare is neurocutaneous melanosis (NCM). It is characterized by the presence of melanocytic proliferations in the central nervous system (CNS), which may be benign or malignant [3,11].…”

Section: Discussionmentioning

confidence: 99%

Giant Congenital Melanocytic Nevi in a Pakistani Newborn

Hashmi¹,

Shamim²,

Kumar³

et al. 2021

Cureus

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Congenital melanocytic nevi arise from overgrowth or disrupted migration of melanocyte precursor in the neural crest. They are also known as coat-sleeve, stocking, bathing trunk or garment nevi. The colour ranges from brown to black, with the lesions presenting as flat to raised nevi. Lesions presenting at birth with a diameter greater than 20cm are labelled giant congenital melanocytic nevi. Risk increases with an increase in the number of satellite lesions near the giant nevus. Management includes regular clinical follow-up monitoring of changes in the lesion and surgical procedures in cases with risk of melanoma and psychological support. The purpose of this case presentation is to describe a rare issue of giant congenital melanocytic nevi in a newborn, along with a literature review and discussion on possible management options.

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Congenital melanocytic nevi

Cited by 26 publications

References 59 publications

Epidemiology of Melanoma

Epidemiology of Melanoma

Oncogenic properties via MAPK signaling of the SOX5‐RAF1 fusion gene identified in a wild‐typeNRAS/BRAF giant congenital nevus

Giant Congenital Melanocytic Nevi in a Pakistani Newborn

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