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Background  Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous disorder and it is associated with an elevated risk for malignant tumors of tissues derived from neural crest cells. The  NF1  gene is considered a tumor suppressor gene and inactivation of both copies can be found in NF1-associated benign and malignant tumors. Melanocytes also derive from neural crest cells but melanoma incidence is not markedly elevated in NF1. In this study we could analyze a typical superficial spreading melanoma of a 15-year-old boy with NF1 for loss of heterozygosity (LOH) within the  NF1  gene. Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation  NF1  c. 5546 G/A.    Results  Melanoma cells were isolated from formalin-fixed tissue by liquid coverslip laser microdissection. In order to obtain statistically significant LOH data, digital PCR was performed at the intragenic microsatellite IVS27AC28 with DNA of approx. 3500 melanoma cells. Digital PCR detected 23 paternal alleles and one maternal allele. Statistical analysis by SPRT confirmed significance of the maternal allele loss.    Conclusion  To our knowledge, this is the first molecular evidence of inactivation of both copies of the  NF1  gene in a typical superficial spreading melanoma of a patient with NF1. The classical double-hit inactivation of the  NF1  gene suggests that the NF1 genetic background promoted melanoma genesis in this patient.

Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.