ABSTRACT
OBJECTIVE@#To investigate the clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma (FH-RCC).@*METHODS@#Immunohistochemical (IHC) staining was used to detect the expression of fumarate hydratase (FH) in tumor tissues of 109 different types of renal cell carcinoma (RCC) patients aged 60 years and younger from the Department of Urology of Peking University First Hospital from January 2013 to December 2019. The clinicopathological data and prognosis of FH-RCC were collected and analyzed.@*RESULTS@#There were eleven patients with FH-negative expression. Seven were males and four females. The age of onset ranged 16-53 years (mean age: 36.7 years), and four female patients all had a history of uterine leiomyoma. Only one first-degree relative of one patient had renal cancer, and none of the patients had a history or family history of cutaneous leiomyomas. The diameter of the tumor was 2.1-12.0 cm (mean: 8.83 cm). Renal sinus or perirenal fat invasion was seen in nine cases, tumor thrombus in renal vein or inferior vena cava in six cases, lymph node metastasis in seven cases, adrenal gland invasion in four cases and splenic capsule invasion in one case. The cases were initially diagnosed as type Ⅱ papillary RCC (7/49, 14.3%), collecting duct carcinoma (2/9, 22.2%) and unclassified RCC (2/51, 3.9%). Tumor histopathology mostly showed a mixture of different structures, such as papillary, tubular cystic, solid, and so on. The most common histological structures were papillary (9/11, 81.8%) and tubular (8/11, 72.7%). Three cases had sarcomatoid areas. At least focal eosinophilic nucleolus (WHO/grades Ⅲ-Ⅳ) and perinuclear halo could be seen in all cases. Immunohistochemical (IHC) stains of most tumors were negative for CA9, CD10 and CK7. The results of fluorescence in situ hybridization (FISH) showed that there was no translocation or amplification of TFE3 gene in two cases with TFE3 IHC expression. All the patients were followed up for 11-82 months. Mean survival was 24 months. Five cases died of distant metastasis 9-31 months after operation (mean: 19 months), and five of the six patients alive had became metastatic.@*CONCLUSION@#Morphologically, FH-RCC overlaps with many types cell RCC. A mixture of papillary and tubular cystic arrangement is the most common growth pattern of FH-RCC. At least focally large and obvious eosinophilic nucleoli are an important histological feature of this tumor. The negative expression of FH can help to confirm the diagnosis. Young female RCC patients with uterine leiomyomas should be suspected of FH-RCC. Some FH-RCC cases lack clinical evidence. The suspicion raised by pathologists based on histological characteristics is often the key step to further genetic testing and the final diagnosis of the tumor.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Biomarkers, Tumor , Carcinoma, Renal Cell/genetics , Fumarate Hydratase/genetics , In Situ Hybridization, Fluorescence , Kidney Neoplasms/genetics , PrognosisABSTRACT
We investigated whether hepatitis B spliced protein affect the NF-kappa B activities by interacting with ubiquitously expressed transcript splice variant 1 (UXT-V1).The HBSP-UXT-V1 protein interactions were screened by yeast two hybrid assay,and confirmed by immunoprecipitation,confocal microscopy,mammalian two hybrid assay,and GST-Pulldown assay.The reporter plasmids driven by NF-kappa B promoter were transfected into UXT-knockdown HBSP stably expressed cell lines,and the reporter genes were detected after transfection.Results showed that the interaction between UXT-V1 and HBSP in yeast was demonstrated.Furtherly,HBSP could interact with UXT-V1 in mammalian cells.HBSP could enhance NF-kappa B activities,and this effect was partly achieved by the interaction with UXT-V1.In conclusion,the effect of HBSPUXT-V1 interaction on the NF-kappa B pathway in hepatocytes may have an impact on HBV related liver diseases.
ABSTRACT
Objective :To explore influence of serum uric acid (UA) on platelet function in patients with coronary heart disease (CHD) and influence of low dose aspirin (100mg) on serum UA level .Methods : A total of 117 CHD patients hospitalized in our hospital from Apr 2017 to Sep 2017 were selected .According to serum UA level ,they were divided into non-hyperuricemia group (n＝69) and hyperuricemia group (n＝48).They all received aspirin an-tiplatelet therapy after admission .Their arachidonic acid (AA ) induced platelet inhibition rate were detected by thrombelastography (TEG) on the seventh day after admission .The change of serum UA level after taking aspirin for three months were followed up .Results : After treatment ,AA induced platelet inhibition rate in hyperuricemia group is significantly lower than that in non-hyperuricemia group [(65.00 ± 19.39)% vs.(85.41 ± 22.83)%,P＝0.001]. Compared with the first day after admission ,there were significant rise in serum UA level in hyperuricemia group [(471.72 ± 53.46) μmol/L vs.(499.72 ± 54.98) μmol/L] and non-hyperuricemia group [ (319.43 ± 57.11) μmol/L vs.(338.46 ± 58.97) μmol/L] after taking aspirin for three months ,P＜0.05 both .Compared with non-hyperuricemia group ,there was a significant rise in serum UA level [(338.46 ± 58.97) μmol/L vs.(499.72 ± 54.98) μmol/L ,P＝0.001] in hyperu-ricemia group .Conclusion : In CHD patients complicated hyperuricemia ,their arachidonic acid induced platelet inhibition rate are significantly lower than that in non-hyperuricemia group .Small dose aspirin leads to serum UA level rise and its in-creasing amplitude in hyperuricemia group is significantly higher than that in non-hyperuricemia group .So , clinicians should monitor serum UA level of those patients in clinical work .