BackgroundWhile the somatic mutation profiles of renal cell carcinoma (RCC) have been revealed by several studies worldwide, the overwhelming majority of those were not derived from Chinese patients. The landscape of somatic alterations in RCC from Chinese patients still needs to be elucidated to determine whether discrepancies exist between Chinese patients and sufferers from other countries and regions.MethodsWe collected specimens from 26 Chinese patients with primary RCC, including 15 clear cell renal cell carcinoma (ccRCC) samples, 5 papillary renal cell carcinoma (PRCC) samples and 6 chromophobe renal cell carcinoma (ChRCC) samples. Genomic DNAs were isolated from paired tumor-normal tissues and subjected to whole exome sequencing (WES). Immunohistochemistry analysis was performed to detect the programmed death ligand 1 (PD-L1) expression in tumor tissues.ResultsA total of 1920 nonsynonymous somatic variants in exons and 86 mutations at splice junctions were revealed. The tumor mutation burden of ccRCC was significantly higher than that of ChRCC (P < 0.05). For both ccRCC and PRCC, the most frequent substitution in somatic missense mutations was T:A > A:T, which was different from that recorded in the COSMIC database. Among eight significantly mutated genes in ccRCC in the TCGA database, six genes were verified in our study including VHL (67%), BAP1 (13%), SETD2 (13%), PBRM1 (7%), PTEN (7%) and MTOR (7%). All the mutations detected in those genes had not been reported in ccRCC before, except for alterations in VHL and PBRM1. Regarding the frequently mutated genes in PRCC in our study, DEPDC4 (p.E293A, p.T279A), PNLIP (p.N401Y, p.F342L) and SARDH (p.H554Q, p.M1T) were newly detected gene mutations predicted to be deleterious. As the most recurrently mutated gene in ChRCC in the TCGA dataset, TP53 (p.R81Q) was somatically altered only in one ChRCC case in this study. The HIF-1 signaling pathway was the most affected pathway in ccRCC, while the PI3K-Akt signaling pathway was altered in all of the three RCC types. Membranous PD-L1 expression was positive in tumor cells from 6/26 (23%) RCC specimens. The PD-L1-positive rate was higher in RCC samples with the somatically mutated genes CSPG4, DNAH11, INADL and TMPRSS13 than in specimens without those (P < 0.05).ConclusionsUsing WES, we identified somatic mutations in 26 Chinese patients with RCC, which enriched the racial diversity of the somatic mutation profiles of RCC subjects, and revealed a few discrepancies in molecular characterizations between our study and published datasets. We also identified numerous newly detected somatic mutations, which further supplements the somatic mutation landscape of RCC. Moreover, 4 somatically mutated genes, including CSPG4, DNAH11, INADL and TMPRSS13, might be promising predictive factors of PD-L1-positive expression in RCC tumor cells.Electronic supplementary materialThe online version of this article (10.1186/s12935-018-0661-5) contains supplementary material, which is available to authorized users.

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BackgroundDiscordant lymphoma is defined by the simultaneous presence of two or more distinct types of lymphomas at different anatomic sites. With fewer than 20 studies reporting cases of discordant lymphoma to date, the incidence of this condition is believed to be very low.Case PresentationHere, we report a case of discordant lymphoma in a 34-year-old female patient that involved mediastinal large B-cell lymphoma and nodular sclerosis Hodgkin lymphoma in the right supraclavicular lymph nodes. The patient presented with a mass in the mediastinum and enlargement of the right supraclavicular lymph nodes, but no obvious signs of lymphoma. Histological examination revealed that the encapsulated mediastinal mass contained medium- or large-size tumor cells with lightly stained cytoplasm and round vesicular nuclei as well as a high percentage of mitotic cells; strongly positive immunohistochemical staining for PAX5, CD20, and CD79a also was observed. Examination of biopsied right supraclavicular lymph node tissues revealed separation by collagen fibers, extensive inflammatory cell infiltration, and large-size tumor cells, such as Reed–Sternberg cells. These tissues stained strongly positive for PAX5 and CD30, weakly positive for CD15, and negative for Epstein-Barr viral RNA. We also found monoclonal gene rearrangement in the immunoglobulin heavy chain gene in the mediastinal large B-cell lymphoma, but no monoclonal gene rearrangement in the nodular sclerosis Hodgkin lymphoma. These findings suggested that these two lymphomas were not of a common clonal origin. The patient was treated by surgical excision of the mediastinal mass followed by radio-chemotherapy, and no metastasis or recurrence occurred during a follow-up period of 32 months.ConclusionA review of previously reported cases indicated that the clinical manifestations and pathological features of discordant lymphoma are diverse due to variation in the types of lymphomas involved. Physicians must have an awareness of discordant lymphoma to avoid incorrect and missed diagnoses, especially considering that the true incidence may not be as low as previously believed.Electronic supplementary materialThe online version of this article (doi:10.1186/s13000-015-0450-6) contains supplementary material, which is available to authorized users.

Objective. The data of lung adenocarcinoma- (LUAD-) related gene expression profiles were mined from the Cancer Genome Atlas (TCGA) database using bioinformatics methods and potential biomarkers related to the occurrence, development, and prognosis of LUAD were screened out to explore the key prognostic genes and clinical significance. Methods. Following the LUAD gene expression profile data that were initially exported from the TCGA database, R software DESeq2 was employed to analyze the difference between the expression profiles of LUAD and normal tissues. The R package “clusterProfiler” was subsequently utilized to perform gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses of the differential genes. A protein-protein interaction (PPI) network was constructed via the String database, and cytohubba, a plugin of Cytoscape, was applied to screen hub genes using the MCC algorithm. The Gene Expression Profile Data Interactive Analysis (GEPIA) was used to analyze expressions of 10 candidate genes in LUAD samples and healthy lung samples, and the selected genes were employed for survival analysis. Results. A total of 1,598 differential genes were identified through differential analyses and data mining, with 1,394 genes upregulated and 204 downregulated. A total of 10 hub genes CCNA2, CDC20, CCNB2, KIF11, TOP2A, BUB1, BUB1B, CENPF, TPX2, and KIF2C were obtained using the cytohubba plugin. The results of the GEPIA analysis indicated that compared with normal lung tissue, the mRNA expression level of the described hub genes in LUAD tissue was significantly increased ( P < 0.05 ). Survival analysis revealed that these genes had a significant impact on the overall survival time of LUAD patients ( P < 0.05 ). Conclusion. The previously described key genes related to LUAD identified in the TCGA database may be used as potential prognostic biomarkers, which will contribute to further comprehension of the occurrence and development of LUAD and provide references for its diagnosis and treatment.

RESULTS:Immunocytochemical staining indicated the expression of KDR antigen in HUVEC. Under adenovirus infection index of 100, with increasing GCV concentration from 0 up to 50 mg/L, the survival rate of AdKDR-tktransfected HUVEC and HepG2 decreased from 100% to (28.94 ± 5.67)% and (75.45 ± 2.91)% at proper order, respectively (P < 0.01), while the survival rate of AdCMVtk-transfected HUVEC and HepG2 declined from 100% to (17.56 ± 2.48)% and (23.15 ± 5.72)%, respectively (P > 0.05). Compared with groupⅠ, there was a decrease of tumor weight by 14.7% in group Ⅲ and by 23.6% in group Ⅳ. And there was a distinct difference between group Ⅲ and Ⅳ (P < 0.05). The median MVD for all groups was 37.4 ± 8.6, 30.6 ± 7.8, 27.6 ± 7.1, and 10.7 ± 4.1 (microvessels/mm 2 ) in groupⅠ, Ⅱ, Ⅲ and Ⅳ, respectively. And there was a marked difference between group Ⅲ and Ⅱ (P < 0.05), Ⅳ and Ⅱ (P < 0.01), and Ⅳ and Ⅲ (P < 0.01). CONCLUSION: INTRODUCTIONHepatocellular carcinoma (HCC) is the third leading cause of cancer death, with over a million new cases annually [1] . Because the success of the conventional therapies is limited, Gene and immunotherapy using a variety of strategies are in development at present. HCC possesses several characteristics that make it an attractive target for these therapies [2,3] .