Dataset Information

Targeted genetic therapy for congenital melanocytic naevi

ABSTRACT: Targeted genetic therapy for congenital melanocytic naevi

PROVIDER: PRJEB64644 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	ERR11774914.fastq.gz	Fastqsanger.gz
	ERR11774915.fastq.gz	Fastqsanger.gz
	ERR11774916.fastq.gz	Fastqsanger.gz
	ERR11774917.fastq.gz	Fastqsanger.gz
	ERR11774918.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 66

Similar Datasets

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

Targeted genetic therapy for congenital melanocytic naevi

Dataset's files

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets