Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Eight mutations, including 5 mutations, which were mapped in noncoding region, 1 synonymous mutation, and 2 missense mutations, were detected in the FLCN gene in both patients. The 2 missense mutations, predicted to be disease-causing mutation or affecting protein function by MutationTaster and SIFT, confirmed the diagnosis. In addition, the 2 patients were also affected with papillary thyroid cancer. Total thyroidectomy and prophylactic bilateral central lymph node dissection were performed for them and the BHD-2 also received lateral lymph node dissection. Pathology reports showed that the patients had lymph node metastasis in spite of small size of thyroid lesions.The 2 missense mutations, not reported previously, expand the mutation spectrum of FLCN gene associated with BHD syndrome. For the thyroid cancer patients with BHD syndrome, total thyroidectomy and prophylactic bilateral central lymph node dissection may be suitable and the neck ultrasound may benefit BHD patients and their family members.

[Harmonic scalpel versus conventional resection in thyroid surgery: a meta analysis on the safety outcomes].

OBJECTIVE: To compare the safety between harmonic scalpel and conventional resection in total or near total thyroidectomy with meta-analysis. METHODS: The prospective randomized controlled studies were searched for in electronic databases (MEDLINE, EMBASE, Cochrane Library). Meta analysis of acquired data was performed through the use of RevMan 5.2 software. RESULTS: According to the inclusion criterion, 13 articles were enrolled which compared on the safety between harmonic scalpel and conventional resection in thyroid surgery. A total of 1620 patients with thyroid tumor were enrolled, including 802 patients in harmonic scalpel group and 818 patients in conventional resection group. Compared with conventional resection group, the harmonic scalpel group showed shorter time of surgery, the weighted mean difference (WMD) and their 95% confidence interval (95%CI) was -21.06[-25.65, -16.47], Z = 8.99, P < 0.00001; less intra-operative blood loss, WMD and 95%CI was -14.36[-20.67, -8.06], Z = 4.46, P < 0.00001; less post-operative drain output (WMD and 95%CI was -7.47[-11.35, -3.58], Z = 3.77, P = 0.0002); less hospitalization charges (WMD and 95%CI was -117.97[-131.65, -104.29], Z = 16.90, P < 0.00001). The incidence of postoperative transient recurrent laryngeal nerve dysfunction and transient hypocalcemia were similar in both groups. CONCLUSION: Using the harmonic scalpel in thyroid surgery was as safe as that of the conventional technique with the advantage of shorter time of surgery, less intraoperative blood loss and less postoperative drain output.

[Expression of LOX and MMP-2 in gastric cancer tissue and the effects of LOX and MMP-2 on tumor invasion and metastasis].

OBJECTIVE: To compare the expressions of lysyl oxidase (LOX) and matrix metalloproteinases-2 (MMP-2) in gastric cancer and pericancerous tissues, in gastric cancers with and without lymph node metastasis, and to analyze the effects of LOX and MMP-2 on tumor invasion and metastasis. METHODS: Gastric cancer and pericancerous tissues were collected from 46 patients who underwent surgery. Levels of LOX and MMP-2 mRNA were detected by RT-PCR. Protein abundance of LOX and MMP-2 was examined using Western blot. RESULTS: Expressions of LOX and MMP-2 mRNA, and protein in 46 gastric cancers were significantly higher than that in 46 pericancerous tissues. In gastric cancer with lymph node metastasis, the levels of LOX and MMP-2 mRNA and protein were higher than those in gastric cancers without lymph node metastasis (P < 0.05). In the groups of gastric cancer with lymph node metastasis, expression of LOX was positively correlated with MMP-2 protein expression (P < 0.01). CONCLUSIONS: Expressions of LOX and MMP-2 in gastric cancer tissues are significantly higher than that in pericancerous tissues. The expressions of LOX and MMP-2 in gastric cancer with lymph node metastasis are higher than that in gastric cancer without lymph node metastasis. Expressions of LOX and MMP-2 are positively correlated. The results suggest that LOX and MMP-2 may promote the growth and metastasis of gastric cancer.

[Analysis of variation trends of thyroid cancer treated in Tianjin Cancer Hospital form 1954 to 2009].

OBJECTIVE: To investigate and analyze the variation trends in the pathological composition of thyroid cancer patients treated in Tianjin Cancer Hospital from 1954 to 2009. METHODS: To retrospectively analyze the incidence and clinical features of different pathological types of thyroid cancers in 4342 patients between different time periods from 1954 to 2009. RESULTS: In the four main pathological types of thyroid cancers, the component ratio of papillary thyroid cancer in every period was 68.1%, 78.3%, 81.3%, 82.1%, 85.8%, respectively, while the morbidity of patients with papillary thyroid carcinoma concurrent with Hashimoto's thyroiditis was increased, so was the proportion of tumors in diameter < or = 2 cm. The proportion of follicular thyroid carcinoma and anaplastic thyroid carcinoma was decreasing accordingly; however, the proportion of medullary thyroid carcinoma did not change significantly. CONCLUSIONS: The pathological classification of the thyroid carcinoma patients has significant changes in the 4342 cases treated in our Hospital from 1954 to 2009. The proportion of papillary carcinoma is increased, while that of follicular carcinoma and anaplastic carcinoma is decreased. The reasons might attribute to the improved level of consultations and iodized diet or other factors.