Loss of H19 imprinting and up-regulation of H19 and SNRPN in a case with malignant mixed Müllerian tumor of the uterus

An unusual clinical presentation of a patient with neuronal intestinal dysplasia is presented. A 46-year-old male noted a palpable mass in the right lower quadrant of his abdomen for two months. A computed axial tomographic scan showed a thickened wall of the cecum with a tumor-like appearance. The excised specimen consisted of a mass caused by the thickened, edematous wall of the dilated cecum and appendix. The wall of the cecum and appendix measured up to 2.5 and 0.8 cm, respectively, in thickness. Microscopic studies showed extensive hyperplasia and hypertrophy of the ganglia and nerve plexuses and hypertrophy of the muscularis propria, consistent with neuronal intestinal dysplasia.