No abstract

Purpose: Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas to better understand duodenal tumorigenesis in these disorders.Experimental Design: Sixty-nine adenomas were biopsied during endoscopy in 16 FAP and 10 MAP patients with duodenal polyposis. Ten FAP and 10 MAP adenomas and matched blood DNA samples were exome sequenced, 42 further adenomas underwent targeted sequencing, and 47 were studied by array comparative genomic hybridization. Findings in FAP and MAP duodenal adenomas were compared with each other and to the reported mutational landscape in FAP and MAP colorectal adenomas.Results: MAP duodenal adenomas had significantly more protein-changing somatic mutations (P ¼ 0.018), truncating mutations (P ¼ 0.006), and copy number variants (P ¼ 0.005) than FAP duodenal adenomas, even though MAP patients had lower Spigelman stage duodenal polyposis. Fifteen genes were significantly recurrently mutated. Targeted sequencing of APC, KRAS, PTCHD2, and PLCL1 identified further mutations in each of these genes in additional duodenal adenomas. In contrast to MAP and FAP colorectal adenomas, neither exome nor targeted sequencing identified WTX mutations (P ¼ 0.0017).Conclusions: The mutational landscapes in FAP and MAP duodenal adenomas overlapped with, but had significant differences to those reported in colorectal adenomas. The significantly higher burden of somatic mutations in MAP than FAP duodenal adenomas despite lower Spigelman stage disease could increase cancer risk in the context of apparently less severe benign disease.

This document summarizes the contents of the Clinical Guidelines for the Endoscopic Mucosal Resection of Non-Pedunculated Colorectal Lesions that was developed by the working group of the Spanish Society of Digestive Endoscopy (GSEED of Endoscopic Resection). This document presents recommendations for the endoscopic management of superficial colorectal neoplastic lesions.

No abstract

Spinal cord haematoma, or haematomyelia, is a rare condition caused by several unusual disease processes. Traumatic events, such as spinal cord injury and surgery or procedures involving the spinal cord, are the most important causes of spinal cord haematoma. Rarely, it is associated with anticoagulation therapy. Irrespective of cause, spinal cord haematoma is considered a neurosurgical emergency and must be treated promptly in order to prevent neurological sequelae. The authors describe the case of a 69-year-old patient taking warfarin in the therapeutic range for a mechanic mitral valve, who developed chest pain with cervical and dorsal radiation, and experienced sudden paraparesis of the limbs. A CT of the spine confirmed haematomyelia. A high index of suspicion, prompt recognition and immediate intervention are essential to prevent major morbidity and mortality from intraspinal haemorrhage.LEARNING POINTSThis article reports an unusual presentation of spontaneous spinal haematoma, imposing the careful elaboration of differential diagnoses, which is very important in internal medicine.The description of this low-incidence case allows the scientific community to assist in approaching patients with similar symptoms.The lack of studies about the etiology and treatment of spontaneous spinal haematoma underlines the need for further studies and research in the area in order to increase the scientific evidence on the approach of these patients.