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Biomedical subjects

Quoc-Dien Trinh

Publications and source records attributed to Quoc-Dien Trinh.

3 recordsLinked to original sources

Renal cell carcinoma with nodal metastases in the absence of distant metastatic disease: prognostic indicators of disease-specific survival.

OBJECTIVES: Outcome of patients with exclusive renal cell carcinoma (RCC) nodal metastases without distant metastases is not extensively described. We explored the ability of standard risk factors such as tumour size, Fuhrman grade, histologic subtype and symptom classification to predict renal cell carcinoma-specific survival (RCC-SS). METHODS: Analyses targeted 171 patients with RCC nodal metastases and absence of distant metastases. Univariable, multivariable, and predictive accuracy analyses addressed RCC-SS with the intent of identifying independent and most informative predictors of RCC-SS in this cohort of patients. RESULTS: Median RCC-SS was 2.3 yr. Symptom classification (61.3%, p<0.001) demonstrated the highest univariable accuracy. In multivariable analyses, symptom classification contributed the most to the combined predictive accuracy of all variables (+4.2%, p<0.001), followed by Fuhrman grade (+2.3%) and histologic subtype (+1.0%). CONCLUSIONS: Renal cell carcinoma-specific survival of patients with exclusive nodal metastases may show important variability. In presence of systemic symptoms, survival is extremely poor. Substantially better survival may be expected in patients with local or no symptoms. This observation has important implications when adjuvant therapies are considered.

Adolescent↗

Sunitinib relieves renal cell carcinoma spinal cord compression.

A 66-year-old previously healthy female was diagnosed with renal cell carcinoma (RCC) metastic to the 4th, 6th and 12th thoracic vertebrae. Despite external beam radiotheraphy (20G in 5 fractions), she progressed to spinal cord compression within 4 weeks and was wheelchair bound. Radiation and surgery were not considered suitable, but sunitinib was initiated. After two 6-week sunitinib cycles, she is fully ambulatory. She reports grade I fatigue and occasional epistaxis, as sole side effects. This case demonstrates that despite the rapid progression of the disease, which escaped the effect of radiation within four weeks, sunitinib resulted in complete clinical symptom resolution, which was confirmed radiographically. Moreover, it appears that the novel therapies for metastatic RCC may restore quality and quantity of life to many of those, whose disease previously appeared too advanced to treat.

Aged↗

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

Mutations causing expansions of polyalanine domains are responsible for nine hereditary diseases. Other GC-rich sequences coding for some polyalanine domains were found to be polymorphic in human. These observations prompted us to identify all sequences in the human genome coding for polyalanine stretches longer than four alanines and establish their degree of polymorphism. We identified 494 annotated human proteins containing 604 polyalanine domains. Thirty-two percent (31/98) of tested sequences coding for more than seven alanines were polymorphic. The length of the polyalanine-coding sequence and its GCG or GCC repeat content are the major predictors of polymorphism. GCG codons are over-represented in human polyalanine coding sequences. Our data suggest that GCG and GCC codons play a key role in polyalanine-coding sequence appearance and polymorphism. The grouping by shared function of polyalanine-containing proteins in Homo sapiens, Drosophila melanogaster and Caenorhabditis elegans shows that the majority are involved in transcriptional regulation. Phylogenetic analyses of HOX, GATA and EVX protein families demonstrate that polyalanine domains arose independently in different members of these families, suggesting that convergent molecular evolution may have played a role. Finally polyalanine domains in vertebrates are conserved between mammals and are rarer and shorter in Gallus gallus and Danio rerio. Together our results show that the polymorphic nature of sequences coding for polyalanine domains makes them prime candidates for mutations in hereditary diseases and suggests that they have appeared in many different protein families through convergent evolution.

Amino Acid Sequence↗