CT features and comparative study of the rare pathological subtypes of renal cell carcinoma / 解放军医学杂志

Objective To investigate the differential MSCT diagnostic features and comparative study of subtypes of renal cell carcinoma (RCC). Methods All of the renal cell carcinomas including 14 chromophobe RCCs (ChRCC), 10 papillary RCCs type 1(PRCC Ⅰ), 15 papillary RCCs type 2 (PRCC Ⅱ), 7 mucinous tubular and spindle cell carcinomas (MTSCCs) were investigated except for clear cell RCC. Dynamic contrast-enhanced CT was conducted in each case after intravenous administration of contrast agent, and the data including all the CT manifestations and the enhancement features were analyzed and contrasted together. Results The indexes including enhancement homogeneity, border of the tumor, renal pelvis violation, blood vessel in tumor showed statistically significant difference between the 4 subtypes (P<0.05), but no difference in the calcification of the tumor. Only the enhancement degree of MTSCC was lower than the kidney medulla in all of the three enhancement scanning phases, while the other 3 tumors' enhancement degree was higher than the kidney medulla in the cortical phase. Peak contrast enhancement of ChRCC was located in the cortical phase, however, peak contrast enhancement of the others did in the nephrographic phase. Conclusions Enhancement characteristics combined CT features is of great help in differential diagnosis of 4 subtypes of RCC.

Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.

Von Hippel‑Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear‑cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). The sequence analysis revealed the presence of novel missense mutations c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c. 337 C > G leading to the following variations p.Ala 65 Val, p.Gly 80 Asp, p.Gly 93 Glu, p.Gln 107 Glu, p.Gln 113 Glu in the protein.

Microsatellite instability and loss of heterozygosity on chromosome 3p,9p and 14q in renal cell carcinoma / 第二军医大学学报

Objective:To investigate frequencies of microsatellite instability(MSI)and loss of heterozygosity(LOH)in renal ceil carcinoma(RCC),and to discuss the relationship of clinicopathological characteristics of RCC with MSI and LOH. Methods:Twelve microsatellite markers located at chromosomes 3p,9p and 14q were selected to investigate microsatellite alterations(MSI and LOH)in 31 RCC specimens and their paired metastasis specimens by polymerase chain reaction- polyacrylamide gel elect rophoresis-ethylene dibromide(PCR-PAGE-EB)staining and sequencing.Results:The frequency of MSI could reached 61.3% and that of LOH could reach 54.8%.The highest frequency of MSI was at locus of D9S168(32.3%);the highest frequency of LOH was at locus of D3S1289(21.4%).No correlation was found between MSI or LOH and the patients' age,sex,pathology type and metastastis,except that MSI was correlated with TNM stage of RCC(P