ABSTRACT. We examined the expression pattern of the tumor suppressor gene RAS association domain family gene 1 (RASSF1) in lacrimal gland carcinoma and analyzed its relationship with the oncogenesis and progression of tumors. Sixty-two patients (30 males, 32 females, average age = 47 ± 3.5 years) admitted with lacrimal gland carcinoma to the Department of Ophthalmology of our hospital between January 2012 and January 2014 were enrolled in this study. Based on tumor malignancy, patients were classified into a malignant group (N = 25) and benign group (N = 37). Healthy lacrimal gland resections from trauma surgery (N = 35) were recruited as a healthy control group. Expression profiles of RASSF1 in all groups were quantified using reverse transcription-polymerase chain reaction and western blotting. Recurrence of lacrimal gland carcinoma was surveyed through postoperative follow-up. Expression levels of RASSF1 in samples from the malignant and benign groups were significantly lower than those in the healthy group (P < 0.05). Furthermore, the malignant group showed lower RASSF1 expression than the benign group (P < 0.05). Postoperative follow-up identified 22 cases of recurrence in the malignant group, with a recurrence rate of 88%, while 15 cases in the benign group had a C.H. Zeng et al. 6994©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 6993-6998 (2015) recurrence rate of 40.5%. A direct relationship exists between RASSF1 expression levels and the malignancy grade of lacrimal gland carcinoma. Patients with lower RASSF1 expression showed a higher recurrence probability, indicating unfavorable prognosis. Therefore, measuring RASSF1 expression can be used as a diagnostic method for lacrimal gland carcinoma.

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Cystatin-C (Cys-C) has been reported as a valuable prognostic biomarker in various malignancies. However, its effect on upper tract urothelial carcinoma (UTUC) patients has not been investigated before. Thus, to explore the impact of Cys-C on survival outcomes in patients undergoing radical nephroureterectomy (RNU), a total of 538 patients with UTUC who underwent RNU between 2005 and 2014 in our center (West China Hospital, Chengdu, China) were included in this study. Kaplan–Meier method and Cox regression analyses were performed to assess the relationship between Cys-C and survival outcomes using SPSS version 22.0. The cutoff value of Cys-C was set as 1.4 mg l−1 using the receiver operating characteristic (ROC) curves and Youden index. The mean age of patients included was 66.1 ± 11.1 years, and the median follow-up duration was 38 (interquartile range: 19–56) months. Overall, 162 (30.1%) patients had elevated Cys-C, and they were much older and had worse renal function than those with Cys-C <1.4 mg l−1 (both P < 0.001). Meanwhile, Kaplan–Meier analysis revealed that the group with elevated Cys-C had worse cancer-specific survival (CSS, P = 0.001), disease recurrence-free survival (RFS, P = 0.003), and overall survival (OS, P < 0.001). Multivariable Cox analysis suggested that the elevated Cys-C was identified as an independent prognostic predictor of CSS (hazard ratio [HR]: 1.997, 95% confidential interval [CI]: 1.331–2.996), RFS (HR: 1.429, 95% CI: 1.009–2.023), and OS (HR: 1.989, 95% CI: 1.366–2.896). In conclusion, our result revealed that the elevated preoperative serum Cys-C was significantly associated with worse outcomes in UTUC patients undergoing RNU.

Our findings indicate that a specific enhancement pattern of lymphadenopathy seen on MDCT was useful in differentiating between untreated TB and lymphomas of the cervical lymph nodes.

ABSTRACT. This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the study. All exons of NF1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. Possible changes in function of the protein induced by amino acid variants were predicted by bioinformatic analysis. In this family, the 5 patients presented different clinical phenotypes, but all manifested typical café-au-lait macules. One novel frame-shift mutation, c.702_703delGT, in exon 7 of NF1 was identified in all affected family members, but not in the unaffected family members or in 102 normal controls. This mutation generates a premature stop codon at amino acid position 720. Additionally, a synonymous mutation c.702 G>A was found in 3 family members, including 2 affected and 1 normal individuals. In conclusion, our study suggests that a novel c.702_703delGT frame-shift mutation in NF1 is likely to be responsible for the pathogenesis of NF1 in this family. To the best of our knowledge, it is the first time that a c.702_703delGT mutation has been identified in a family with neurofibromatosis type 1.