Background and study aims
Endoscopic submucosal dissection (ESD) is used to treat superficial colorectal tumors. Previous studies have reported the efficacy of ESD for treating residual or local recurrent colorectal tumors. This study sought to evaluate the efficacy of ESD in treating these lesions and to assess factors that prevent successful ESD.
Methods
This retrospective study assessed 25 cases of residual or local recurrent lesions that were previously treated using EMR (18 lesions), TEM (5 lesions), ESD (1 lesion) or surgery (1 lesion), and 459 primary lesions treated using ESD between April 2008 and September 2015. Clinicopathological characteristics, treatment outcome and adverse events were compared between groups with or without scar tissue. Factors related to perforation and a prolonged treatment time, which indicate the likelihood of technical difficulties, were identified using multiple logistic regression analysis.
Results
In residual or local recurrent lesions groups, patients experienced more perforations (32 % vs 4 %,
P
< 0.001) and required a longer treatment time (117 min vs 61 min,
P
< 0.001) compared with the primary lesions group. Both groups showed a similar curative resection rate. Emergency surgery was not needed in any case. Multiple logistic regression analysis indicated that tumor location and therapeutic scar tissue were high risk factors for perforation, and that large tumor size and therapeutic scar tissue were high risk factors for prolonged treatment time.
Conclusions
ESD for residual or local recurrent colorectal tumors is a technically challenging, but effective and minimally invasive treatment. When performed carefully with sufficient proficiency, it is a useful treatment option.
Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs clinical management of these patients, but a large part of the genetic contribution to adult leukoencephalopathy remains unresolved. To examine this genetic contribution, we analyzed genomic DNA from 60 Japanese patients with adult leukoencephalopathy of unknown cause by next generation sequencing using a custom-designed gene panel. We selected 55 leukoencephalopathy-related genes for the gene panel. We identified pathogenic mutations in 8 of the 60 adult leukoencephalopathy patients (13.3%): NOTCH3 mutations were detected in 5 patients, and EIF2B2, CSF1R, and POLR3A mutations were found independently in 1 patient each. These results indicate that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by NOTCH3 mutations is the most frequent adult leukoencephalopathy in our cohort. Moreover, brain imaging analysis indicates that CADASIL patients who do not present typical phenotypes may be underdiagnosed if not examined genetically.
Endoscopic ultrasound-guided fine-needle aspiration (EUF-FNA) has improved the diagnosis of pancreatic lesions. Next-generation sequencing (NGS) facilitates the production of millions of sequences concurrently. Therefore, in the current study, to improve the detectability of oncogenic mutations in pancreatic lesions, an NGS system was used to diagnose EUS-FNA samples. A total of 38 patients with clinically diagnosed EUS-FNA specimens were analyzed; 27 patients had pancreatic ductal adenocarcinoma (PDAC) and 11 had non-PDAC lesions. DNA samples were isolated and sequenced by NGS using an Ion Personal Genome Machine system. The Cancer Hotspot Panel v2, which includes 50 cancer-related genes and 2,790 COSMIC mutations, was used. A >2% mutation frequency was defined as positive. KRAS mutations were detected in 26 of 27 PDAC aspirates (96%) and 0 of 11 non-PDAC lesions (0%). The G12, G13, and Q61 KRAS mutations were found in 25, 0, and 1 of the 27 PDAC samples, respectively. Mutations were confirmed by TaqMan® polymerase chain reaction analysis. TP53 mutations were detected in 12 of 27 PDAC aspirates (44%). SMAD4 was observed in 3 PDAC lesions and cyclin-dependent kinase inhibitor 2A in 4 PDAC lesions. Therefore, the current study was successfully able to develop an NGS assay with high clinical sensitivity for EUS-FNA samples.
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