Association of novel MUC16, MAP3K15 and ABCA1 mutation with giant congenital melanocytic nevus

Background Giant congenital melanocytic nevus (GCMN) is the benign nevomelanocytic proliferation. Mutations in NRAS have been previously detected in GCMN, but mutations in BRAF are generally lacking in the Chinese population. Mutated genes in this disease can estimate the risk of malignant transform...

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Published inHereditas Vol. 159; no. 1; p. 33
Main Authors Zhou, Renpeng, Wang, Qirui, Hou, Jialin, Wang, Danru, Liang, Yimin
Format Journal Article
LanguageEnglish
Published Lund BioMed Central 09.09.2022
BMC
Subjects
ABCA1
ABCA1 protein
Adipose tissue
Algorithms
ATP-binding protein
Biomarkers
blood
Body fat
Brief Report
Genes
Genetic transformation
Giant congenital melanocytic nevus (GCMN)
histology
histopathology
Kinases
MAP3K15
Melanoma
MUC16
Mutation
Nevus
Patients
Proteins
risk assessment
Skin cancer
therapeutics
Whole-exome sequencing (WES)
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Summary:Background Giant congenital melanocytic nevus (GCMN) is the benign nevomelanocytic proliferation. Mutations in NRAS have been previously detected in GCMN, but mutations in BRAF are generally lacking in the Chinese population. Mutated genes in this disease can estimate the risk of malignant transformation in GCMN. Therefore, it is worth investigating the genetic information of GCMN. Methods Here, we presented two cases of GCMN of the upper extremities. The clinical and histological data were analyzed. The whole exome sequencing (WES) was performed to investigate the mutational profile of peripheral venous blood (PB), normal skin (NS), small melanocytic nevus (SMN), deep penetrating and non-penetrating GCMN (dPGCMN and nPGCMN). Results We showed a reduction in the circumference of involved upper extremities in both patients. The clinical and histopathological data indicated the reduction of adipose tissue associated with the invasion of GCMN. The WES data revealed that MUC16, MAP3K15 and ABCA1 were novel potential candidate genes for the disease as well as biomarkers for predicting malignant transformation. Conclusion The MUC16, MAP3K15 and ABCA1 may serve as novel biomarkers for predicting malignant transformation and targets for the diagnoses and therapy for the GCMN.
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ISSN:1601-5223
0018-0661
1601-5223
DOI:10.1186/s41065-022-00247-8