Objective To analyze the clinicopathological characteristics of patients with gastrointestinal malignant tumor in some parts of Hainan province and alien patients outside of Hainan province. Methods Three hundred and fifteen patients who were diagnosed by pathological confirmation were selected in Hainan Branch of PLA General Hospital from Jun 2012 to June 2016, clinicopathological parameters including age, gender, tumor location, cancer cell differentiation, body mass index (BMI), body surface area (BSA), value of preoperative tumor markers, TNM stages, microsatellite state, human epidermal growth factor receptor 2 (Her-2) staining, Ki-67 index and risk factors were collected and compared between local and alien patients. Results In contrast with patients outside of Hainan province, a significant lesser BMI [colorectal cancer: (23 ± 3) kg/m2 vs. (24 ± 4) kg/m2, t=-3.69, P< 0.05; gastric cancer: (21.50 ± 3.15) kg/m2 vs. (23.00 ± 3.61) kg/m2, t=-2.11, P=0.04] and BSA [colorectal cancer:[(1.73 ± 0.18) m2 vs. (1.82 ± 0.18) m2, t=-3.46, P<0.05;gastric cancer:(1.73 ± 0.16) m2 vs. (1.81 ± 0.18) m2, t=-2.09, P=0.04] were found in local patients. Local patients with colorectal cancer were much more younger [(57 ± 13) years old vs. (62 ± 13) years old, t=-2.30, P=0.02], with corresponding elevated positive rate of preoperative CEA (χ2=4.56, P= 0.03), T stages (χ2 = 8.31, P= 0.04) and TNM stages (χ2= 11.19, P= 0.01), however, no such difference was detected in gastric cancer patients (all P>0.05). Conclusions Patients with gastrointestinal cancer in some parts of Hainan province, in particular, colorectal cancer patients, present some exceptional clinicopathological features, which are marked by younger age at diagnosis, low level of BMI and BSA. In addition, preoperative level of CEA would be of important for these patients.

Objective To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family. Methods PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family. Results A missense mutation Arg773His was identified in the patients (homozygous) and carriers(heterozygous). Conclusions Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.

Objective To evaluate the prognostic value of combined examination of pre-operative carcinoembryonic antigen (CEA) and CD44v6 for colorectal cancer patients. Methods A total of 140 patients with complete clinical data pathologically diagnosed as colorectal cancer from December 2012 to December 2017 in Hainan Hospital of PLA General Hospital were enrolled. Finally, 69 validated cases excluding CEA (-) or CD44v6(-) patients were registered according to pre-operative CEA detection and immunohistochemistry results of CD44v6. Kaplan-Meier method was used to analyze the progression-free survival (PFS) time for single factors. Multiple-factor analysis was done by using Cox proportional hazard model. Results Sixty-nine patients included 29 cases of double positive and 40 cases of double negative in CEA and CD44v6. There were statistical significances of the expressions of double positive and double negative in patients with different gender, M stage, TNM stage. Double positive was more apparent in female (χ2 = 4.42, P= 0.04), presenting of metastasis (χ2=5.06, P=0.02) and advanced cases (χ2=4.38, P= 0.04); univariable analysis showed the N stage (P=0.00), M stage (P=0.00), TNM stage (P=0.00) and double positive/double negative in CEA and CD44v6 (P= 0.04) were likely to affect the PFS, however, multivariable analysis showed that N stage (HR= 0.15, 95 ％ CI: 0.03-0.86, P= 0.03), TNM stage (HR= 23.83, 95 ％ CI: 3.65-155.51, P=0.00) were the independent prognostic factors for PFS. PFS in double positive patients was shorter than that in double negative ones [24.0 months (3-84) vs. 31.0 months (8-94), P=0.04]. Conclusion Pre-operative combined examination of CEA and CD44v6 could be helpful in judging the prognosis for colorectal cancer patients.