Giant Congenital Melanocytic Nevus Treated With Trametinib

Mir, Adnan; Agim, Nnenna G.; Kane, Alex A.; Josephs, Shellie C.; Park, Jason; Ludwig, Kathleen F.

doi:10.1542/peds.2018-2469

Cited by 42 publications

(48 citation statements)

References 14 publications

(19 reference statements)

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“…Another study found a gain of function mutation in the NRAS gene associated with GCMN, ultimately leading to an abnormal proliferation of melanoblasts [9]. Some literature reports BRAFactivating mutations (single-nucleotide variants and fusions) activate the MAPK pathway [5].…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…CMN are usually categorized depending on the adult size of maximum diameter of the lesion into small, medium, large or giant nevi. Small CMNs are usually <1.5cm, medium 1.5-19.9cm, large 20-40cm and giant >40cm in maximal diameter [4,5]. This classification is also accepted and stated by the University of New York [6].…”

Section: Introductionmentioning

confidence: 99%

Giant Congenital Melanocytic Nevi in a Pakistani Newborn

Hashmi¹,

Shamim²,

Kumar³

et al. 2021

Cureus

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“…Genetic studies provide information for a comprehensive understanding of CMN, and molecular targeted therapies also provide new management strategies, especially for large to giant CMN, since traditional treatment relies heavily on surgical excision procedures. In 2019, Mir A et al [21] reported the first targeted therapy in a BRAF-mutated giant CMN with trametinib, a MEK inhibitor. Later, Rouille et al [22] reported that the proliferative potential of CMN could be limited by local administration of MEK and Akt inhibitors in a xenograft model.…”

Section: Discussionmentioning

confidence: 99%

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation

Zou¹,

Sun²,

Zeng

et al. 2020

Hereditas

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Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis. CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. A recent study reported mutation of MAP2K1, a downstream effector of the RAS-RAF-MEK pathway, in melanoma with an overall frequency of 8%. Later, in 2019, Jansen P detected one activating MAP2K1 mutation in acral nevi. However, it is unknown whether MAP2K1 mutations are common in CMN, and how MAP2K1 contributes to the pathogenesis of CMN remains to be determined. In this study, we report one patient clinically and histologically diagnosed with CMN, with the MAP2K1 germline mutation and a BRAF p.Val600Glu somatic hit in the lesion. To the best of our knowledge, this is the first report of the coexistence of mutated BRAF and MAP2K1 in CMN, which may suggest that MAP2K1 mutations contribute to the occurrence and development of nevus expanding our knowledge of the genetics of CMN.

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“…Genetic studies add information for the diagnosis and evaluation of malignant potential, and the subsequent molecular targeted drugs also provide new management strategies for giant CMNs since traditional treatment relies heavily upon iterative surgical procedures, such as excision and curettage. Mir A et al [28] reported the first BRAF-mutated giant CMN treated with trametinib, an MEK inhibitor. The color and extent of the nevus lesion improved, and the patient's intractable pain and pruritus rapidly resolved.…”

Section: Discussionmentioning

confidence: 99%

Giant congenital melanocytic nevus of the scalp: from clinical-histological to molecular diagnosis

et al. 2020

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Congenital melanocytic nevus (CMN) is a benign proliferative skin disease in the epidermis and dermis. Large to giant CMNs are estimated to be associated with an increased lifetime risk of malignancy. It is necessary to estimate and monitor the risk of malignant transformation for giant CMNs. To date, the clinical "ABCD" criteria and immunohistochemistry studies can be confusing and, to some extent, subjective. Accordingly, the elucidation of genomic analyses of nevi is required to better understand the malignant transformation of CMNs. Here, we describe two large to giant CMNs of the scalp with opposite clinical-histological and molecular evaluations of potential malignancy risk. To our knowledge, this is the first description of a genetic study of large to giant CMNs of the scalp in East Asia. We recommend reviewing the molecular diagnosis together with careful medical history and histological information to facilitate the evaluation of the potential malignancy risk.

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Giant Congenital Melanocytic Nevus Treated With Trametinib

Cited by 42 publications

References 14 publications

Giant Congenital Melanocytic Nevi in a Pakistani Newborn

Giant Congenital Melanocytic Nevi in a Pakistani Newborn

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation

Giant congenital melanocytic nevus of the scalp: from clinical-histological to molecular diagnosis

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