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Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis.

ABSTRACT: UNLABELLED: BACKGROUND:A giant congenital melanocytic nevus (GCMN) is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN. RESULTS:Proteomic differences between GCMN (n?=?3) and normal skin samples (n?=?3) were analyzed by one-dimensional-liquid chromatography-tandem mass spectrometry Relative levels of the selected proteins were validated using western blot analysis. The biological processes associated with the abundance modified proteins were analyzed using bioinformatic tools. Among the 46 abundance modified proteins, expression of 4 proteins was significantly downregulated and expression of 42 proteins was significantly upregulated in GCMN compared to normal skin samples (p?

SUBMITTER: Kim HK

PROVIDER: S-EPMC3575290 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

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Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis.

Kim Hyoung Kyu HK Kim Yong Kyu YK Song In-Sung IS Lee Sung-Ryul SR Jeong Seung Hun SH Kim Min Hee MH Seo Dae Yun DY Kim Nari N Rhee Byoung Doo BD Ko Kyoung Soo KS Tark Kwan Chul KC Park Chul Gyoo CG Cho Je-Yoel JY Han Jin J

Proteome science 20120820 1

<h4>Unlabelled</h4><h4>Background</h4>A giant congenital melanocytic nevus (GCMN) is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN.<h4>Results</h4>Proteomic diff ...[more]

PMID: 22906024

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Project description:We present a 6-month-old male patient, who was consulted with dermatologist by his parents, because of a pigmented lesion, present since birth, covering almost the all skin of the back and buttocks. A sharply bordered, unequally coloured congenital pigmented nevus, measuring approximately 21 cm in diameter was observed in the whole body skin examination. The lesion was affecting the lower 2/3 of the skin of the back and the top half of the gluteus area, extending to the lateral part of the tors, forward the abdomen and the upper lateral part of the hips, composed by multiple darker-pigmented nests and several lighter areas, with single depigmented zones, hairy surface, irregularly infiltrated on palpation. Congenital melanocytic nevi are presented in approximately 1% of newborns, while giant congenital melanocytic nevi (GCMN) are the most uncommon subtype of them; with occurrence rate 1 in 50,000 births. They affect 2% of a total body surface or presenting in a diameter larger than 20 cm in older children. Although not common, the possible malignant transformation remains one of the most important considerations related to them, as the related lifetime risk of melanoma is 4% to 10%. Treatment recommendations include non-surgical methods as dermabrasion only within the first two weeks of life, for prevention the possible melanocytic deeper migration, while serial surgical excisions or tissue expanders could be useful treatment tool even in later stages. Nevertheless, cosmetic result is not always satisfactory, and the risk of malignant changes remains, in cases of previous melanocytic migration in deeper layer. Recent article suggests the potential role in the treatment of GCMN with NRAS inhibitor trametinib, approved for treatment of advanced melanoma, associated with underlying NRAS mutations. Although promising, the drug could be useful in paediatric patients, only with associated NRAS gene mutation. It is still unclear whether it could be helpful, independent of the NRAS status.

Dataset Information

Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis.

Publications

Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis.

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