Genetic susceptibility loci of lung cancer are associated with malignant risk of pulmonary nodules and improve malignancy diagnosis based on CEA levels.

Objective: The heightened prevalence of pulmonary nodules (PN) has escalated its significance as a public health concern. While the precise identification of high-risk PN carriers for malignancy remains an ongoing challenge, genetic variants hold potentials as determinants of disease susceptibility that can aid in diagnosis. Yet, current understanding of the genetic loci associated with malignant PN (MPN) risk is limited. Methods: A frequency-matched case-control study was performed, comprising 247 MPN cases and 412 benign NP (BNP) controls. We genotyped 11 established susceptibility loci for lung cancer in a Chinese cohort. Loci associated with MPN risk were utilized to compute a polygenic risk score (PRS). This PRS was subsequently incorporated into the diagnostic evaluation of MPNs, with emphasis on serum tumor biomarkers. Results: Loci rs10429489G>A, rs17038564A>G, and rs12265047A>G were identified as being associated with an increased risk of MPNs. The PRS, formulated from the cumulative risk effects of these loci, correlated with the malignant risk of PNs in a dose-dependent fashion. A high PRS was found to amplify the MPN risk by 156% in comparison to a low PRS [odds ratio (OR)=2.56, 95% confidence interval (95% CI), 1.40-4.67]. Notably, the PRS was observed to enhance the diagnostic accuracy of serum carcinoembryonic antigen (CEA) in distinguishing MPNs from BPNs, with diagnostic values rising from 0.716 to 0.861 across low- to high-PRS categories. Further bioinformatics investigations pinpointed rs10429489G>A as an expression quantitative trait locus. Conclusions: Loci rs10429489G>A, rs17038564A>G, and rs12265047A>G contribute to MPN risk and augment the diagnostic precision for MPNs based on serum CEA concentrations.

[Population intervention of thalassemia relying on family planning service system].

OBJECTIVE: To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system. METHODS: Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou. RESULTS: The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn. CONCLUSION: Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.

[Experience of the diagnosis and treatment of primary small intestine lymphoma].

OBJECTIVE: To report the experiences of the diagnosis and treatment of primary lymphoma of the small intestine (PSIL). METHODS: The clinical data of 15 patients with PSIL treated from January 2003 to July 2007 was investigated retrospectively. Of the 15 cases, 9 patients were male and 6 were female, the average age was 51.6 years (range, 18 - 73 years). Data of gender, age, clinical manifestation, laboratory examination, imageology examination, diagnosis and treatment of the patients was reviewed. RESULTS: The most common clinical manifestations were as follow: abdominal pain, abdominal lump, bowel obstruction, gastrointestinal hemorrhage and athrepsy. Serum tumor markers were checked normal. All the 15 cases were found with tumor by spiral CT, and 12 cases were diagnosed as PSIL. Eleven cases were given Ba-meal examinations, and positive results was found in 4 cases, and only 1 case was considered to be PSIL. All the 15 patients received operation. All the patients were diagnosed as non-Hodgkin lymphoma (NHL) by postoperative pathology (8 patients as diffuse large B-cell lymphoma, 5 as mucosa associated lymphoid tissue type B cell lymphoma and 2 as enteropathy-type intestinal T cell lymphoma). No perioperative death occurred. Ten patients received adjuvant chemotherapy with the regimen of CHOP (cyclophosphamide + epirubicin + vincristine + prednisone) after the operation. Fourteen cases were followed-up for a mean time of 30 months (range, 6 - 52 months). The 1- and 3-years survival rate was 85.7% and 57.1%, respectively. CONCLUSIONS: PSIL has no specific clinical manifestations, the diagnostic rate with barium study is low, spiral CT scan is a promising diagnostic method for PSIL. Operation combined with chemotherapy is important for PSIL.

[Experimental study of NK4 gene targeted therapy mediated by human telomerase reverse transcriptase promoter for colon cancer].

OBJECTIVE: To investigate anti-tumor effect of the recombined adenovirus encoding NK4 gene regulated by human telomerase reverse transcriptase (HTERT) promoter (Ad HTERTp-NK4) on human colon cancer. METHODS: Colon cell line HCT116 was infected with Ad HTERTp-NK4. NK4 expression was determined by RT-PCR and Western blot. The cell-growth inhibition rate and the invasive capacity of cells were evaluated by MTT method and reconstituted basement membrane invasion assay. The model of subcutaneous tumor was generated by injection of HCT116 cells into the dorsum of nude mice. Ad HTERTp-NK4 was injected around the tumor tissues, and tumor growth was observed. RESULTS: NK4 gene was highly expressed in infected HCT116 cells. The cell growth inhibition rate and the invasive inhibition rate in Ad HTERTp-NK4 cells were 47.14% and 40.63% respectively, which were significantly higher than those in the control cells (2.75% and 2.31%, P<0.05). Tumor growth was significantly inhibited in mice injected with Ad HTERTp-NK4, and the tumor growth inhibition rate was 47.3%, which was significantly higher than that in the controls (4.6%, P<0.05). CONCLUSION: Ad HTERTp-NK4 can inhibit tumor growth and decrease the invasive capacity of tumor cells, which makes it an ideal candidate for new gene therapy for colon carcinoma.