Yong Sheng Wang

Comparative study of one-step nucleic acid amplification assay, frozen section, and touch imprint cytology for intraoperative assessment of breast sentinel lymph node in Chinese patients

Conventional procedures for the intraoperative assessment of breast cancer sentinel lymph nodes (SLNs) are frozen section (FS) and touch imprint cytology (TIC). The one‐step nucleic acid amplification (OSNA) assay is a novel molecular technique. The aim of this study was to evaluate the optimal approach by comparing OSNA assay, FS, and TIC. Five hundred and fifty‐two consecutive patients were enroled from five study centers in China. The SLNs were cut into alternating 2 mm blocks. The odd blocks were tested by the OSNA assay intraoperatively, and the even ones were assessed by postoperative histology (four 4‐ to 6‐μm‐thick sections were taken every 200 μm per block). In addition, intraoperative histological assessments were carried out on the even blocks of 211 patients by FS and all blocks of 552 patients by TIC. Overall performance of the assay compared to postoperative histology was: accuracy 91.4%; sensitivity 83.7%; and specificity 92.9%. The sensitivity of the assay was higher than FS (211 patients, 77.6% vs 69.7%; not significant, P = 0.286) and was significantly higher than TIC (552 patients, 83.6% vs 76.2%; P = 0.044). When assessing nodes with micrometastases, the sensitivity of the assay was higher than FS (17 nodes, 47.1% vs 23.5%; not significant, P = 0.289) and was significantly higher than TIC (48 nodes, 62.5% vs 35.4%; P = 0.007). The study indicated that the OSNA assay is an accurate and rapid intraoperative assay for assessing breast SLNs and it can replace FS and TIC for application in general medical practice. The trial was registered as: OSNA assay China Registration Study. Clinical trial registration number: China Breast Cancer Clinical Study Group 001c.

A modified technology could significantly improve the visualization rate of the internal mammary sentinel lymph nodes in breast cancer patients

In addition to the axillary lymph nodes, the internal mammary lymph nodes (IMLNs) drainage is another important lymphatic channel of the breast. The status of IMLNs also provides important prognostic information for breast cancer patients. However, there still lack a minimally invasive method to evaluate the status of IMLNs so far. We read with great interest the work of Postma and colleagues published recently [1], where the authors showed that the biopsy of internal mammary sentinel lymph nodes (IM-SLNs) when seen on pre-operative lymphoscintigraphy provided a less invasive method of assessing the IMLNs than surgical dissection; however, in the group of patients who underwent the biopsy of IM-SLNs, systemic treatment was changed in none. It is important to realize that the internal mammary hotspots in lymphoscintigraphy were seen only in 119 of 486 (24 %) patients with four peritumoral injections in Postma’s study. As Chen et al. [2] summarized, superficial injection of radionuclide was unable to identify IM-SLNs but intraparenchymal injection (peritumoral, intratumoral, or subtumoral) was more reliable. Unfortunately, with this injection method, the internal mammary hotspots in lymphoscintigraphy were seen only in a small proportion of patients (range from 13 to 37 %), which has been the restriction for the biopsy of IM-SLNs to date [2–4]. Mudun et al. [5] showed that internal mammary hotspots were more frequently seen in patients receiving four-point peritumoral injections compared with one-point injection (22.2 vs 8.4 %). They speculated that radionuclide might be better uptaken by IM-SLNs if more than one-point peritumoral injection was performed. For this reason, we tried injecting radionuclide into two quadrants of the breast to achieve a relative high detection rate of IM-SLNs. To our great surprise, the visualization rate of IM-SLNs (71 %, 37/52) in lymphoscintigraphy was found to be much higher than expected with this modified technology. A study of IM-SLNB was conducted in our institute from November 2011 and a total of 110 patients were enrolled till now. 0.5–1.0 mCi Tc-labeled sulfur colloid (0.2–2.0 ml) was injected intraparenchymally under the ultrasonographic guidance 3–18 h before surgery. In the initial 58 cases, the patients received the sulfur colloid injection only into the tumor quadrant. In the latter 52 cases, the sulfur colloid was injected into two quadrants of the breast, at 6 and 12 o’clock spots which were 2.0–3.0 cm away from nipple (the shine-through phenomenon could be avoided with these injection sites). Subsequently, lymphoscintigraphy was performed 0.5–1.0 h before surgery. Our ongoing study indicated that the twoquadrant injection was associated with a significantly higher visualization rate (71 %, 37/52) of internal mammary hotspots compared with the one-quadrant injection (14 %, 8/58) (P = 0.000). The typical image of lymphoscintigram after the two-quadrant injection is shown in Fig. 1. Also, internal mammary hotspots were more commonly seen in patients who were injected with a higher P. Qiu Y. Liu X. Sun Y. Wang (&) Breast Cancer Center, Shandong Cancer Hospital, 440 Jiyan Rd, Jinan, 250117 Shandong, People’s Republic of China e-mail: wangysh2008@yahoo.com.cn

A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome

OBJECTIVE To perform mutation analysis in a family with long QT syndrome. METHODS The medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing. RESULTS A mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father. CONCLUSION A novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.