A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report.

摘要: Von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing the patient to variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic tumors. VHL caused by mutations tumor suppressor gene on short arm chromosome 3, clinical manifestations develop if both alleles are inactivated according two-hit hypothesis. more frequent in coding region occur occasionally splicing gene. Previously, we reported that loss heterozygosity (LOH) common squamous carcinoma tissues tongue. We describe case tongue point mutation discuss its association with disease. Sequence analysis DNA extracted from peripheral blood revealed heterozygous germline (c. 340 + 5 G > C) splice donor sequence intron 1 RT-PCR exon1/intron1 junction RNA tissue detected an unspliced transcript. Analysis LOH using marker nucleotides (G or deletion mutant C allele tissues. The fifth nucleotide site important for efficiency at site. development this was not associated because occurred only single deleted cells.