1/7. association of a duodenal follicular lymphoma and hereditary nonpolyposis colorectal cancer.Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited predisposition to colorectal and endometrial cancers caused by germline mutation of mismatch repair genes, with hMLH1 and hMSH2 underlying the majority of the cases. Although lymphoid tumors are the most common tumors in mouse models for HNPCC, lymphomas are almost never encountered in patients who have HNPCC, except in rare families with germline homozygous deletion of hMLH1. We report the case of a 53-year-old man who had a history of colon cancers related to constitutional hMLH1 mutation and who was diagnosed as having a duodenal follicular lymphoma This diagnosis was supported by IgH-BCL2 rearrangement and BCL2 immunoreactivity in tumor cells. The association of both of these possibly related rare diseases has never been reported. To clarify this relationship, we searched for hMLH1 expression and mismatch repair deficiency in the duodenal lymphoma. hMLH1 immunostaining was positive in lymphoid tumor cells, and no microsatellite instability was detected. In agreement with mouse models for HNPCC, these results suggest the involvement of alternative mechanisms to complete mismatch repair deficiency for lymphomagenesis in HNPCC syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Metastatic choriocarcinoma presenting as a bleeding duodenal ulcer.We report a case of a young man with a rare disease, a choriocarcinoma of the gastrointestinal tract presenting as a common entity, a bleeding duodenal ulcer. Pathological findings and strongly positive immunostains of tissue specimens for beta human chorionic gonadotrophin confirmed the entire tumor to be a choriocarcinoma ruling out the possibility of an adenocarcinoma with focal components of choriocarcinoma or a beta human chorionic gonadotrophin producing adenocarcinoma. The pattern of tumor invasion in this case is more suggestive of metastatic than primary involvement of the gastrointestinal tract. The diagnosis of primary gastrointestinal choriocarcinoma is difficult because of the need to meticulously rule out the occurrence of a primary in other organs, which at times regresses spontaneously, a diagnosis made more difficult in this case in which no autopsy was performed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. leiomyomatosis of mesenteric lymph nodes associated with duodenal adenocarcinoma.leiomyomatosis of lymph nodes is an extremely rare disease. Only a few cases have previously been reported in pelvic lymph nodes. They were related to a benign uterine leiomyoma, a metastasizing uterine leiomyoma, an endometrial adenocarcinoma, and an ovarian endometrioid carcinoma. We report on a case of leiomyomatosis of the mesenteric lymph nodes associated with a duodenal adenocarcinoma with no history of uterine leiomyoma or any gynecological malignancy. The patient, a 56-year-old woman, was found to have an adenocarcinoma of the duodenum. All mesenteric lymph nodes removed showed leiomyomatosis, which was verified by immunohistochemical study showing positive immunostaining for smooth muscle actin, desmin, and vimentin, but negative staining for HMB-45. It is necessary to make a differential diagnosis from other examples of spindle cell proliferation involving lymph nodes such as a hemorrhagic spindle cell tumor with amianthoid fibers (palisade myofibroblastoma), angiomyolipoma, lymphangiomyomatosis, inflammatory pseudotumor, and Kaposi's sarcoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Ampullary carcinoid tumors: rationale for an aggressive surgical approach.Two cases of ampullary carcinoid tumor are reported. These tumors are among the most rare of GI tract carcinoids and appear to have a distinct presentation and biological behavior from carcinoids arising in the duodenum. The existing literature is reviewed with attention to the implications for surgical management of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. leiomyosarcoma of the duodenum.leiomyosarcoma of the duodenum is a rare disease and its characteristics have been described previously in the literature. We present a case of duodenal leiomyosarcoma, which was diagnosed by several imaging techniques prior to operation. Findings of computed tomography (CT), magnetic resonance imaging (MRI), ultrasonography, and angiography in this case are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. Mesenteric fibromatosis.Two rare cases of mesenteric fibromatosis are presented. The first patient had a right upper quadrant mass and colicky abdominal pain. The tumor originated from the mesentery of the colon and it infiltrated the gallbladder, cystic duct, and the liver. The second patient had severe hematemesis and melena. The origin of the tumor, which infiltrated 3/4 part of the stomach, the gastrohepatic ligament, the first part of the duodenum, and the liver could not be determined. In the first patient, partial colectomy and cholecystectomy were performed and the liver lesion was completely excised. The second patient underwent subtotal gastrectomy and left lobectomy of the liver. The first part of the duodenum was excised. Gastrojejunostomy was performed. No recurrence was recorded in either patients during 16 and 13 months follow-up, respectively. In this report, diagnostic aids, differential diagnosis and treatment of this rare disease are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. granular cell tumor of the duodenum: a case report.granular cell tumor (GCT) in the duodenum is an extremely rare disease: only one case has been listed in a review, to date. We reported a 47-yr-old Japanese male case with GCT of the duodenum. Clinically, melena caused by bleeding from the tumor was the only symptom. The tumor cells showed abundant, granular eosinophilic cytoplasm. Although this tumor was clinically and histologically benign, highly developed tumor microvessels were demonstrated both angiographically and histologically, suggesting malignant potential of the tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |