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Aim of the Study: To detect hereditary non-polyposis colorectal cancer (HNPCC) patients with a strategy combining clinical selection (patient age at onset of cancer less than 50 years or family history of HNPCC tumors) and microsatellite instability typing plus immunohistochemistry, leading to mismatch repair (MMR) germline mutation analysis., Methods: Tumors were screened for microsatellite instability (MSI) and for hmlh1 and hmsh2 immunohistochemical expression. Germline mutation analysis was performed to search for MLH1 and MSH2 mutations in patients with MSI-High and MSI-Low tumors., Results: 197 adenocarcinomas were studied: 164 patients were< or =50 years old, 33 were older than 50 years but had a family history of HNPCC tumors. Fifty tumors (25.4%) were MSI-High, 10 were MSI-Low (5.1%), and 130 were MS-Stable (66%). MSI typing was inconclusive in 7 (3.5%). Immunohistochemistry screening was performed on 165 tumors: sensitivity was 63.6%, specificity was 99%. Germline mutation analysis was performed in 33/60 MSI-High or Low tumors: 23 mutations were noted (70% of the tested patients)., Conclusion: This proposed strategy of determining microsatellite instability in young colorectal cancer patients or in patients with a family history of HNPCC tumors led to an increased frequency in the detection of MMR germline mutations.

Malignant melanoma of uveal or cutaneous origins are diseases which may run a fulminant metastatic course immediately or after a prolonged disease-free period. The liver is the most common initial site of metastatic involvement. Nevertheless, hepatic metastatic miliaria spread is rare. In these cases, morphological studies are normal and only biological abnormalities including icteric cholestasis and hepatocellular insufficiency may suggest this diagnosis. We report two cases of hepatic metastatic miliaria from malignant melanoma diagnosed by percutaneous liver biopsy.

The pancreas is an uncommon site of metastasis from renal cell carcinoma. The metastasis is generally diagnosed during the follow-up of patients who underwent nephrectomy for renal cell carcinoma. In our observation, duodenal bleeding led to the diagnosis of both pancreatic metastasis and renal carcinoma. The diagnosis of pancreatic metastasis should be suspected when a pancreatic mass is associated with past or synchronous renal carcinoma. The outcome after resection of pancreatic metastasis is better than after resection of pancreatic adenocarcinoma. Surgical resection of pancreatic metastasis should be considered when possible.

Background: Papillary fibroelastoma of the endocardium is a benign cardiac tumor which may cause embolic events., Case Report: We report the first case, to our knowledge, of cardiac papillary fibroelastoma which was revealed by cerebral ischemic events in a patient infected by the human immunodeficiency virus. The initial diagnosis was mitral endocarditis complicated by cerebral embolic events., Discussion: This case demonstrates that fibroelastomas should be added to other valvular diseases described in HIV infected patients. We recall the embolic potential of cardiac papillary fibroelastomas which warrant surgical treatment.

Cholesterol crystal embolism is a serious complication of atherosclerosis resulting in renal, cutaneous and rarely digestive manifestations. We report two cases of systemic cholesterol crystal embolization with gallbladder involvement in two patients with gallstones, severe atherosclerosis with an abdominal aortic aneurysm as well as predisposing factors for cholesterol crystal migration. These two cases show that, like vasculitis, cholesterol crystal embolization may result in ischemic cholecystitis, and that diagnosis of cholesterol crystal embolization on routine cholecystectomy suggests severe systemic involvement and a poor prognosis.

Recurrent allelic losses on chromosome 22q have been reported in colorectal cancer, distal to the NF2 gene, suggesting that another tumor suppressor gene might be involved. We report here the typing of 256 sporadic colorectal tumors and 18 colonic cancer cell lines using a set of chromosome 22 polymorphisms, ranging from 20 to 45. A panel of somatic cell hybrids, that allows to distinguish 11 bins in the 22q13 region, was used to localize 19 of the 45 selected markers and the putative tumor suppressor gene BZRP. Allelic-loss was observed in 43% of tumors. The minimal region of deletion that could be determined, telomeric to locus D22S270, refines significantly the position of the gene. The localization of the BZRP gene in this region led to a systematic screening for somatic point mutation. Direct sequencing of its coding sequence in 36 tumors hemizygous for chromosome 22 allowed the identification of three polymorphisms but failed to detect somatic mutation.

Familial adenomatous polyposis may exhibit extracolonic tumors which include thyroid carcinoma. It has been recently suggested that thyroid carcinomas associated with familial adenomatous polyposis show distinct histologic features different from sporadic follicular or papillary thyroid carcinomas. We report a case of thyroid carcinoma in a young girl affected by familial adenomatous polyposis, whose thyroid tumor exhibited some of these features. This finding confirms the peculiar histologic phenotype of the thyroid carcinomas associated with familial adenomatous polyposis. Alterations of the APC gene responsible for familial adenomatous polyposis may play a role in the development of these thyroid cancers.

Budd-Chiari syndrome with inferior vena cava involvement is usually due to membranous obstruction; traumatic origin of inferior vena cava lesions is very rare. We report a case of Budd-Chiari syndrome in a 29 year-old man, 3 years after an abdominal trauma. Cavography showed 50% stenosis in the sushepatic portion of the inferior vena cava. After two unsuccessful percutaneous transluminal angioplasty procedures, a surgical resection of the stenotic vein was performed. The histological study of the stenotic segments showed that the three layers of the venous wall had been replaced by a dense fibrous tissue. No inflammation or thrombosis were found. This case of stenosis of the vena cava shows that histological examination can be used to assess the traumatic nature of the lesion, showing a different histological pattern from that of the membranous obstruction in which the basic structure of the venous wall is preserved.

Increased prevalence of gallbladder cancer has been related to specific occupations and suggests a possible professional exposure to carcinogens. The authors report the case of a 64-year-old woman who had a squamous cell carcinoma of the gallbladder with hepatic metastases, and professional exposure to trichloroethylene in a degreasing metal laboratory. Although trichlorothylene could not be assumed to be a true carcinogen for gallbladder cancer, this case underscores that epidemiologic studies taking into account professional exposure, in addition to the usual risk factors of gallbladder cancer, are requested, in order to detect a new patient group at risk for gallbladder cancer.

Two cases of gallbladder carcinoma occurring in intramural diverticulosis (adenomyomatosis) are reported. The first was adenocarcinoma associated with cholesterolosis without gallstone formation. The second was squamous cell carcinoma. Four other carcinomas developing on diverticulosis were reported in the literature, none of them being squamous cell carcinoma. Our cases and those of the literature show that diverticulosis, a benign condition, can be associated with carcinoma which can make the pathological diagnosis difficult.