RESUMO
Objective@#To compare the difference in somatic gene mutation of PTC subtypes between 114 patients with papillary thyroid carcinoma (PTC) and The Cancer Genome Atlas (TCGA) database.@*Methods@#Totally 114 PTC patients admitted to The First Affiliated Hospital of Nanjing Medical University were recruited. The 18 hotspot genes associated with thyroid cancer were detected in thyroidectomy specimens were using next generation sequencing. PTC data were downloaded from the TCGA database in the cBioPortal website, and the difference in the somatic gene mutation was compared between 114 PTC patients and the TCGA database@*Results@#The 114 PTC patients included 73 women (64.04%) and had a mean age of (39.23±13.18) years. The prevalence of BRAF V600E (66.67% vs. 48.68%), TERTp (3.51% vs. 0.41%), PDGFRA (1.75% vs. 0%), PTEN (3.51% vs. 0.41%) and TP53 gene mutations (4.39% vs. 0.61%) was significantly higher among the 114 PCT patients than in the TCGA database (P<0.05). The prevalence of BRAF V600E (80.88% vs. 54.99%), TP53 (7.35% vs. 0.57%) and TSHR gene mutations (2.94% vs. 0%) was significantly higher in classical PTC(CPTC) patients than in the TCGA database, and the prevalence of BRAF V600E (36.84% vs.13.86%) and TERTp gene mutations (10.53% vs. 0%) was significantly higher in follicular variant PTC (FVPTC) patients than in the TCGA database. According to the American Thyroid Association Risk Stratification of Thyroid Cancer Recurrence, the prevalence of BRAF V600E and TP53 gene mutations was 77.14% and 8.57% among moderate-risk CPTC patients, the prevalence of BRAF V600E gene mutation was 27.27% among low-risk FVPTC patients, and the prevalence of TERTp gene mutation was 33.33% among moderate-risk FVPTC patients, which were all higher than in the TCGA database (55.10%, 0%, 3.28%, and 0%, respectively; P<0.05).@*Conclusion@#There are significant differences in the type and rate of somatic gene mutations between 114 PTC patients and the TCGA database.
RESUMO
Objective To explore the anatomical features and the dissection technique of thyrothymic ligament (TTL),and to explore the clinical significance of protecting the inferior parathyroid gland (IPTG) with this structure.Methods Patients who received the initial thyroid surgery in the Department of Thyroid Surgery of the First Affiliated Hospital with Nanjing Medical University from May.2017 to Dec.2017 were prospectively analyzed.We dissected TTL,identified and located the IPTG,described the structural features of TTL,and investigated the position relationship of TTL and IPTG to evaluate the possibility and value of protecting IPTG in situ.Results About 121 patients underwent the dissection,totally 194 sides dissected that included 96 left sides and 98 right sides.TTL was found in 143 sides (73.7％),78 left sides (81.3％) and 65 right sides (66.3％).Nearly 70.6％ IPTG can be proactively identify and located by the TTL during the operation.TTL was a kind of adipose connective tissue that was wide at the bottom and narrow at the top,accompanying with the inferior thyroid vein,from the thymus to the thyroid.76.2％ TTL were attached to the lower pole and the lower 1/3 dorsal of thyroid,containing fat and vessels.33.5％ IPTGs were located in the area surrounding around the ends of the TTL.25.3％ IPTGs were located in the TTL.4.6％ IPTGs were located in the thymus and 7.2％ IPTGs surrounding around the TTL.The incidence rate of post-operation hypoparathyroidism was 14.9％.Conclusions TTL commonly exists and has significant relationship with IPTG.TTL connects thymus and IPTG,which would be considered a complex (thymus-thyrothymic ligament-IPTG complex,TLIC).The meticulous TTL dissection technique will help proactively identify,locate and protect IPTG during operation,and reduce the incidence rate of post-operation hypoparathyroidism.
RESUMO
Objective To investigate the expression of melanoma antigen- encoding gene (MAGE) A1 protein in esophageal squamous cell carcinoma, and explore its correlation with the clinicopathological factors and prognosis. Methods A retrospective analysis was performed on 197 patients with esophageal squamous cell carcinoma who accepted radical surgical treatment from January 2006 to December 2012. The expressions of MAGEA1 protein in these specimens of cancer tissue and cancer adjacent tissue were detected by immunohistochemistry with tissue microarray technology. Results MAGEA1 protein was expressed in cytoplasm and nucleus of tumor cells. The positive expression rate of MAGEA1 protein in cancer tissue was significantly higher than that in cancer adjacent tissue: 73.6％ (145/197) vs. 5.6％ (11/197), and there was statistical difference (P<0.01). The positive expression of MAGEA1 protein had no correlations with sex, age, history of smoking/drinking, family history of upper gastrointestinal cancer, depth of tumor invasion, lymph node metastasis, tumor differentiation, location and TNM stage (P>0.05). Kaplan-Meier survival analysis result showed that the 5-year survival rate in patients with MAGEA1 protein positive expression was significantly lower than that in patients with MAGEA1 protein negative expression (37.2％ vs. 53.8％), and there was statistical difference (P=0.018). Multivariate analysis result showed that MAGEA1 protein positive expression was an independent predictor of prognosis in esophageal squamous cell carcinoma patients (HR=1.91, 95％CI 1.22 to 2.98, P = 0.004). Conclusions The expression of MAGEA1 protein is abundant in esophageal squamous cell carcinoma, and is related to worse clinical outcome. MAGEA1 protein could be a candidate target for tumor immunotherapy.
RESUMO
Objective@#To investigate the clinicopathological features and differential diagnosis of adamantinoma of long bone.@*Methods@#Seven cases of adamantinoma on long bone were selected at Jiangsu Province People′s Hospital from June 2012 to May 2018. Clinicopathologic details, immunohistochemical and molecular analysis were performed,and the relevant literature reviewed.@*Results@#There were 6 males and 1 female patients,age ranging from 21 to 60 years (mean 38 years). Six cases were on the right side and one case was on the left; in five cases the tumors arose from tibia, one from patella and one from humerus. Microscopically,tumour cells were mainly composed of spindle cells arranged in bundles or braids,with irregular epithelial island. Immunohistochemically,the epithelial island expressed high molecular weight cytokeratin but not CK8/18. Both epithelial and spindle components expressed vimentin. One case that was microscopically similar to intraosseous synovial sarcoma did not show SYT gene rearrangement. Clinical follow-up was available for five patients: one patient had axillary metastases seven months after operation, one patient had recurrence 34 months after surgery, 3 patients were uneventful with follow up duration from half a month to 32 months.@*Conclusion@#Adamantinoma occurring in long bones is very rare. The correct diagnosis requires adequate sample selection, careful morphologic observation, immunohistochemistry and molecular genetics.
RESUMO
Objective To investigate the clinicopathological characteristics and postoperative prognosis analysis of intra-thoracic localized Castleman disease (LCD).Methods The clinical data of 9 patients with intra-thoracic LCD who accepted surgical treatment were retrospectively analyzed.There were 5 males and 4 females,with age of (32.8 ± 10.9) years.Two patients complained of chest pain,1 patient suffered from paraneoplastic pemphigus,and the rest were diagnosed by physical examination.Four cases were diagnosed with LCD by preoperative CT examination.Results All patients underwent surgical resection.Four patients were performed open surgery and 5 patients had video assisted thoracic surgery.All patients accepted radical surgery.But 2 of these patients had postoperative complications.One patient was the injury of phrenic nerve and another was pericardial effusion.Patho-histological showed hyaline vascular type of Catleman disease in all patients.All patients survived without recurrence during the follow-up for 2-53 months.Conclusions Intra-thoracic is rare and liable to misdiagnosed.For increasing the preoperative diagnosis rate of LCD,the combined application of imaging tests is important,and clinicians and radiologists should also enhance the awareness of this disease.Complete surgical resection of the tumor is the best therapeutic alternative for intra-thoracic LCD.