Molecular profiles and circulating tumor-DNA detected in Chinese early stage breast cancer.

Background: With the development of gene-sequencing technology, genome biomarkers, including Erb-B2 receptor tyrosine kinase 2 (ERBB2), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (pIK3CA), BReast CAncer gene 1 (BRCA1), and BReast CAncer gene 2 (BRCA2), and immunomarkers, including the tumor mutational burden (TMB) and programmed death-ligand 1 (PD-L1), have become important in the selection of treatment. Methods: Twenty patients with early stage breast cancer who underwent surgery were enrolled in this study. Tissue samples and paired postoperative peripheral blood samples were collected and subjected to the targeted-capture sequencing of 1,021 cancer-associated genes. Results: The most frequently altered genes were tumor protein 53 (TP53; 70%), PIK3CA (40%), protooncogene MYC (35%), ERBB2 (30%), and cyclin-dependent kinase 12 (CDK12; 20%). Six (30%) patients presented with ERBB2 amplification of NGS and simultaneously were positive for human epidermal growth factor receptor 2 (HER2) of IHC. ERBB2 amplification and being HER2 positive were common in breast cancer patients without lymph node metastasis (5/6, 83.3%) and those in stages IA-IIA. Most of the somatic mutations clustered in the TP53 pathway, followed by the PI3K pathway. The TMB was lower than metastatic breast cancer in our cohort, and ranged from 0 to 9.6 mut/Mb (median: 1.92 mut/Mb). Interestingly, more patients had the ERBB2 mutation in the non-lymph node metastasis group than the lymph node metastasis group (55.6% vs. 9.1%; P=0.049). Similarly, more patients had the CDK12 mutation in the non-lymph node metastasis group than the lymph node metastasis group (44.4% vs. 0%; P=0.026). Circulating tumor deoxyribonucleic acid (ctDNA) was detected in 7 of the 20 patients (35%). Of these patients, 71.4% (5/7) were in stage I/II. In addition, no correlation was found between ctDNA detection and clinicopathological features or the driver gene mutations (e.g., PIK3CA and ERBB2). However, patients positive for ctDNA had a higher TMB than those negative for ctDNA when grouped according to the median TMB (1.92 mut/Mb; 85.7% vs. 38.5%; P=0.043). Conclusions: This study described that genomic characteristics of Chinese early stage breast cancer, and the results showed that TMB was related to the detection of ctDNA in postoperative blood.

The Safety and Efficacy of Adjustable Postoperative Position after Pars Plana Vitrectomy for Rhegmatogenous Retinal Detachment.

Purpose. To report the safety and efficacy of adjustable postoperative position for rhegmatogenous retinal detachment (RRD). Methods. Retrospective review of 536 consecutive RRD eyes that underwent vitrectomy surgery for retina repair from year 2008 to 2014. The retinal breaks were divided into superior, lateral (nasal, temporal, and macular), and inferior locations, according to the clock of breaks. Patients with superior and lateral break location were allowed to have facedown position or lateral decubitus position postoperatively, while patients with inferior break location were allowed to have facedown position. Results. 403 eyes of 400 patients were included. The mean follow-up interval was 22.7 ± 21.3 months. The overall primary retinal reattachment rate was 93.3%. There were 24 (6.0%), 273 (67.7%), and 106 (26.3%) patients with superior, lateral, and inferior break location, respectively. The primary reattachment rate was 95.8%, 92.3%, and 95.3% accordingly. After further divided the break location into subgroups as a function of duration of symptom, postoperative lens situation, number of retinal breaks, and different vitreous tamponade, the primary reattachment rates were all higher than 82%. Conclusion. Adjustable postoperative positioning is effective and safe for RRD repair with different break locations. Choosing postoperative position appropriately according to retinal break locations could be recommended.

Comparison of the silicone oil removal rate between vitrectomy and manual syringe negative pressure approach.

The purpose of this study was to compare the silicone oil removal rate between vitrectomy and manual syringe negative pressure approach. Thirty-five silicone oil-filled eyes were enrolled and allocated for manual (n = 19) and vitrectomy (n = 16) removal approaches. For manual approach, a 10-ml syringe was connected to the 23-gauge cannula through a short section of blood transfusion tube. Removal was started after pulling and fixing the plunger to the end part. The syringe was pulled away immediately once the residual of silicone oil cannot be observed through the cornea. For vitrectomy approach, the only difference was the source of negative pressure, i.e., the blood transfusion tube was connected to the cannula directly to remove the silicone oil. Silicone oil removal rate was defined as the volume of silicone oil divided by the time taken for removal. The mean time taken for silicone oil removal was faster for manual approach than vitrectomy approach (4.13 ± 1.41 vs. 6.14 ± 1.49, p = 0.001). Furthermore, the silicone oil removal rate was larger for manual approach (1.42 ± 0.30 vs. 0.90 ± 0.16 ml/min, p < 0.001). No severe intraoperative or postoperative complications were noted for both approaches. The mean IOP at day 1 after surgery was significantly lower than that at baseline in both groups (manual group 10.2 ± 4.5 vs. 17.6 ± 5.9, p < 0.001, vitrectomy group 15.1 ± 7.5 vs. 8.3 ± 1.9, p < 0.002). All the eyes were recovered at 1 week after surgery. The best-corrected visual acuity (LogMar) at 1 month postoperatively improved compared to that preoperative for both approaches (manual group: 1.10 ± 0.62 vs. 1.47 ± 0.76, p = 0.07; vitrectomy group: 1.10 ± 0.47 vs. 1.11 ± 0.50, p = 0.62). Both approaches are safe for silicone oil removal. The manual approach is more convenient and efficient.

Increased prediction of right nonrecurrent laryngeal nerve in thyroid surgery using preoperative computed tomography with intraoperative neuromonitoring identification.

BACKGROUND: A nonrecurrent laryngeal nerve (NRLN) is a rare but potentially serious anatomical variant. Although the incidence is reported to be 0.3% to 1.3%, it carries a much higher risk of palsy during thyroid surgery. The objective of this study is to investigate the usefulness of computed tomography (CT) for preoperative identification and intraoperative neuromonitoring identification (IONM) of NRLN in thyroid cancer patients. METHODS: The preoperative neck CT scans from 1,574 patients who needed thyroid surgery were examined. Absence of the brachiocephalic artery (BCA) and the presence of arteria lusoria were defined as positive with NRLN. Systematic intraoperative neuromonitoring (IONM) was also carried out for these 1,574 patients to localize and identify NRLN. A negative electromyography (EMG) response from lower vagal stimulation but a positive EMG response from the upper position indicated the occurrence of an NRLN. RESULTS: Nine NRLN (0.57%) were intraoperatively identified out of the 1,574 patients, and no patient with a NRLN showed preoperative clinical symptoms related to NRLN. Prior to the operation, surgeons identified only seven suspected NRLN cases based on identification of arteria lusoria. But a review of CT scans revealed that all cases could be identified by vascular anomalies. All patients were successfully detected at an early stage of operation using intraoperative neuromonitoring (IONM). Postoperative vocal cord function was normal in all patients. CONCLUSIONS: CT of the neck is a reliable method for predicting NRLN before thyroid cancer surgery. However, some image features can be easily missed. Neurophysiology helps the surgeon to identify the NRLNs more precisely. Combining the two evaluation methods may decrease the incidence of nerve palsy, especially in cases of NRLN. Considering that CT is expensive, requires an X-ray, and achieves less information than ultrasound (US) concerning thyroid nodules, we suggest that applying US and IONM is more reasonable.

Trochlear calcification and intraorbital foreign body in ocular trauma patients.

OBJECTIVE: To distinguish trochlear calcification and intraorbital foreign body after eye injury in order to avoid misdiagnosis as well as mistreatment. METHODS: The orbital CT images of 403 patients, who visited the Eye Hospital or the Second Affiliated Hospital of Wenzhou Medical College during May 2005-April 2007, were reviewed. The diagnosis of trochlear calcification and intraorbital foreign body was made together by a skilled radiologist as well as an ophthalmologist. General information and CT characteristics in the patients with trochlear calcification were collected. RESULTS: Using CT scan images, 27 among 403 patients (6.69%) were identified with trochlear calcification. Three patients (3/27, 11.11%) were misdiagnosed by radiologists as intraorbital foreign body. Among the 27 patients with trochlear calcification, 23 (85.19%) were male and 4 (14.81%) were female, with an unilateral calcification in 7 patients (7/27, 25.93%) and bilateral in 20 (74.07%) . The highest occurrence of trochlear calcification was in 31-40 years old group (13/403, 3.23%) which reached to 12.87% (13/101) after age-correction. There were 3 types of trochlear calcification on the basis of CT images: commas, dot and inverted "U". CONCLUSIONS: The trochlear calcification is not an uncommon phenomenon and should not be diagnosed as intraorbital foreign body, especially when it co-exists with eye injury in 31-40 years old group. Injury history and our classification method on the basis of CT images could help to avoid misdiagnosis.