Mutation Analysis of Renal Cell Carcinama

Sarcomatoid Transrormation of Chromophobe Renal Cell Carcinoma

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PURPOSE Familial renal cell carcinoma (RCC) is genetically heterogeneous. The most common histopathologic subtype of sporadic and familial RCC is clear cell (cRCC) and von Hippel-Lindau (VHL) disease is the most common cause of inherited cRCC. Familial cRCC may also be associated with chromosome 3 translocations and has recently been described in patients with Birt-Hogg-Dube (BHD) syndrome, cau...

I-Cell Disease with GNPTAB Gene Mutation

I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.

Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma.

BACKGROUND Inactivation of the Von Hippel-Lindau (VHL) tumour suppressor gene leading to overexpression of hypoxia-inducible transcription factors (HIF)-1alpha and -2alpha is a critical event in the pathogenesis of most clear cell renal cell carcinomas (RCC). HIF-1alpha and HIF-2alpha share significant homology and regulate overlapping repertoires of hypoxia-inducible target genes but may have ...

Lack of KRAS and BRAF mutation in renal cell carcinoma.

The epidermal growth factor receptor (EGFR) is a tyrosine kinase receptor belonging to the ErbB family, which is abnormally activated in many epithelial tumors. In renal cell carcinoma (RCC), the EGFR is strongly overexpressed in most primary tumors (83%) as well as in a large proportion of metastases (73%) [1] and has been shown to be associated with the development and progression of metastat...