RESUMO
INTRODUCTION: Advances in molecular biology bring advantages to lung cancer management. Moreover, high-throughput molecular tests are currently useful for revealing genetic variations among lung cancer patients. We investigated the genomics profile of the lung cancer patients at the National Cancer Centre of Indonesia. METHODS: A retrospective study enrolled 627 tissue biopsy samples using real time polymerase chain reaction (RT-PCR) and 80 circulating tumour DNA (ctDNA) liquid biopsy samples using next-generation sequencing (NGS) from lung cancer patients admitted to the Dharmais Cancer Hospital from January 2018 to December 2022. Data were obtained from medical records. Data statistically analysed with p < 0.05 is considered significant. RESULT: The EGFR test results revealed by RT-PCR were wild type (51.5%), single variant (38.8%), double variant (8.3%), and triple variant (1.4%), with 18.66% L85R, 18.22% Ex19del, and 11.08% L861Q variant. Liquid biopsy ctDNA using NGS showed only 2.5% EGFR wild type, 62.5% single variant and 35% co-variant, with EGFR/TP53 and EGFR/PIK3CA as the highest. CONCLUSION: EGFR variants are the most found in our centre. Liquid biopsy with ctDNA using NGS examination could detect broad variants and co-variants that will influence the treatment planning.
Assuntos
Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/patologia , Estudos Retrospectivos , Indonésia , Biomarcadores Tumorais/genética , Genômica/métodos , Receptores ErbB/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , MutaçãoRESUMO
OBJECTIVE: This study aims to evaluate the correlation between electrolytes and serial miRNAs from our previous study. We want to prove that there is the molecular basis that underlying electrolytes disturbances as the predictive indicator to the outcome in NSCLC patients. RESULTS: There were positive correlation between potassium level with miR-34 (p = 0.008, r = 0.366), miR-148 (p = 0.004, r = 0.394) and miR-155 (p = 0.031, r = 0.300).
Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , MicroRNAs , Biomarcadores Tumorais , Carcinoma Pulmonar de Células não Pequenas/genética , Humanos , Indonésia , Neoplasias Pulmonares/genética , MicroRNAs/genéticaRESUMO
OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patients with HSCR. METHODS: In this prospective clinical study, we analyzed SEMA3C gene variants in 55 patients with HSCR through DNA sequencing and bioinformatics analyses. RESULTS: Two variants in SEMA3C were found: p.Val337Met (rs1527482) and p.Val579 = (rs2272351). The rare variant rs1527482 (A) was significantly overrepresented in our HSCR patients (9.1%) compared with South Asian controls in the 1000 Genomes (4.7%) and Exome Aggregation Consortium (ExAC; 3.5%) databases. Our analysis using bioinformatics tools predicted this variant to be evolutionarily conserved and damaging to SEMA3C protein function. Although the frequency of the other variant, rs2272351 (G), also differed significantly in Indonesian patients with HSCR (27.3%) from that in South Asian controls in 1000 Genomes (6.2%) and ExAC (4.6%), it is a synonymous variant and not likely to affect protein function. CONCLUSIONS: This is the first comprehensive report of SEMA3C screening in patients of Asian ancestry with HSCR and identifies rs1527482 as a possible disease risk allele in this population.
Assuntos
Doença de Hirschsprung , Semaforinas , Predisposição Genética para Doença , Doença de Hirschsprung/genética , Humanos , Indonésia , Estudos Prospectivos , Proteínas Proto-Oncogênicas c-ret/genética , Semaforinas/genéticaRESUMO
Biliary atresia (BA) is a progressive obstruction and fibro-obliteration of the extrahepatic and intrahepatic biliary tract that causes cholestatic jaundice in infants, resulting in biliary cirrhosis and even death in the first year of life if the Kasai procedure is not performed at an earlier age. There are many prognostic factors that could affect the survival of patients with BA after Kasai surgery, however results still show some conflicting findings. A retrospective study was conducted using medical records of patients with BA who underwent Kasai surgery at Dr. Sardjito Hospital, Yogyakarta, Indonesia from June 2012 to April 2018. Twenty-nine BA patients were involved in our study, with 16 males and 13 females. Log-rank analysis showed a significant association between survival rate of BA patients with albumin level 1 month and 3 months after Kasai surgery, with p-values of 0.043 and 0.016, respectively. Interestingly, multivariate analysis revealed that cholangitis tended to have an association with BA patients' survival (p=0.09). In conclusion, the BA patients' survival might be affected by the presence of cholangitis after Kasai surgery. Further multicenter studies with a larger sample size are important to verify our results.
