Case Report Squamous cell carcinoma of the small bowel manifesting as a jejunal perforation: a case report

Abstract: Squamous cell carcinoma arising from the small intestine is rare and difficult to identify as a primary or metastatic feature. We report a case of small intestinal squamous cell carcinoma manifesting as subacute peritonitis due to perforation. An 80-year-old man was admitted to our hospital with intermittent postprandial abdominal pain. He was diagnosed with acute peritonitis due to gastrointestinal perforation. During explorative laparotomy, a perforation site was detected in the jejunum and segmental resection to correct the perforation was performed including the perforation site located at the 70 cm inside the jejunum from the Treitz ligament. The pathology results revealed squamous cell carcinoma in the resected segment of the jejunum with two perforation sites

Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations

Pancreatic Endocrine Tumors: A Report on a Patient Treated with Sorafenib

A 31-yr-old man with abdominal pain was diagnosed with a pancreatic endocrine tumor and multiple hepatic metastases. Despite optimal treatment with interferon alpha, a somatostatin analog, local therapy with high-intensity focused ultrasound ablation for multiple hepatic metastases, and multiple lines of chemotherapy with etoposide/cisplatin combination chemotherapy and gemcitabine monotherapy, the tumor progressed. As few chemotherapeutic options were available for him, sorafenib (800 mg/day, daily) was administered as a salvage regimen. Sorafenib was continued despite two episodes of grade 3 skin toxicity; it delayed tumor progression compared to the previous immunotherapy and chemotherapy. Serial computed tomography scans showed that the primary and metastatic tumors were stable. Thirteen months after beginning targeted therapy, and up to the time of this report, the patient is well without disease progression. We suggest that sorafenib is effective against pancreatic endocrine tumors

The First Case of Intraperitoneal Bronchogenic Cyst in Korea Mimicking a Gallbladder Tumor

We present a case of an intraperitoneal bronchogenic cyst located at inferior surface of the liver, next to the gallbladder which clinically mimicked a gallbladder tumor. This is the first case reported in Korea, and we offer reviews of the related literatures. A 48-yr-old woman was admitted to our hospital because of intermittent abdominal pain in right upper quadrant. Computed tomography showed a large mass alongside the gallbladder. During laparotomy, the mass showed an ovoid cystic nature, which was attached to the normal gallbladder and liver bed. Cyst excision with cholecystectomy was performed, and histopathological examination revealed a bronchogenic cyst. Most bronchogenic cysts have a benign nature, but malignant changes have also been reported. Therefore, if a cystic tumor in the abdomen is suspected during preoperative diagnosis, a bronchogenic cyst should be considered in the differential diagnosis

A standardized pathology report for gastric cancer: 2nd edition

The first edition of ‘A Standardized Pathology Report for Gastric Cancer’ was initiated by the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists and published 17 years ago. Since then, significant advances have been made in the pathologic diagnosis, molecular genetics, and management of gastric cancer (GC). To reflect those changes, a committee for publishing a second edition of the report was formed within the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. This second edition consists of two parts: standard data elements and conditional data elements. The standard data elements contain the basic pathologic findings and items necessary to predict the prognosis of GC patients, and they are adequate for routine surgical pathology service. Other diagnostic and prognostic factors relevant to adjuvant therapy, including molecular biomarkers, are classified as conditional data elements to allow each pathologist to selectively choose items appropriate to the environment in their institution. We trust that the standardized pathology report will be helpful for GC diagnosis and facilitate large-scale multidisciplinary collaborative studies

Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development