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1/100. Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

    A male member of a large HNPCC kindred, affected by primary malignancies of the breast and colon, was identified. This individual was found to harbor a germline mutation of the MLH1 mismatch repair gene previously shown to segregate with disease in this kindred. The breast tumor exhibited somatic reduction to homozygosity for the MLH1 mutation, and microsatellite instability was evident in the breast tumor. We conclude that hereditary male breast cancer can occur as an integral tumor in the HNPCC syndrome. ( info)

2/100. Failure to diagnose hereditary colorectal cancer and its medicolegal implications: a hereditary nonpolyposis colorectal cancer case.

    PURPOSE: We describe a patient who had precancerous colonic symptoms and a positive family history of multiple occurrences of early-onset colorectal cancer in her first-degree and second-degree relatives consistent with hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer diagnosis had not been made before her diagnosis of carcinoma of the cecum with liver metastasis. She died at age 20, leading to litigation. Controversies about standards of care, their malpractice implications, and pertinent legal issues are discussed. methods: review of the medical and family history was made by the expert witness (HTL) with appropriate documentation of the chronology of symptoms, as derived from depositions. These documents revealed that the patient's mother had repeatedly discussed with the caregivers her concern about the family history of colon cancer and the need for appropriate surveillance. RESULTS: The patient's colonic symptoms progressed for a period of three years. Flexible sigmoidoscopy was performed by a nonphysician. The physician who ordered the procedure considered this appropriate because isolated polyps were reported in the patient's father and paternal uncle, which apparently led him to believe that the diagnosis was familial adenomatous polyposis. During litigation procedures, a pedigree was constructed and found to be consistent with hereditary nonpolyposis colorectal cancer. The case was settled in favor of the plaintiff before trial. CONCLUSION: It is essential to understand the natural history of hereditary nonpolyposis colorectal cancer, inclusive of the need for surveillance colonoscopy in patients at increased risk by virtue of their position in their family pedigree. ( info)

3/100. Colorectal cancer: genetics and screening.

    Colorectal cancer is a common disease in the western world. Most, if not all, colorectal cancers develop from previously benign adenomas. There are a number of genetic abnormalities including mutations in oncogenes and tumor suppressor genes which either present as a germline, or acquired defects lead to the development of colorectal cancer. Two well-defined hereditary colorectal cancer syndromes exist, hereditary nonpolyposis colorectal cancer syndrome and familial adenomatous polyposis coli, for which genetic testing is possible and advised. Guidelines for screening for colorectal cancer in average, moderate, and high risk patients are available from the american cancer society and were updated in 1997. The American Society of Clinical Oncology has published guidelines for genetic testing in a variety of cancers including colorectal cancer. ( info)

4/100. Epidemiologic and genetic factor in colorectal cancer: development of cancer in dizygotic twins in a family with Lynch syndrome.

    Human tumours usually develop due to a close interaction between environmental and genetic factors. This concept applies also to well defined genetic diseases such as Hereditary Nonpolyposis Colorectal Cancer (HNPCC or Lynch syndrome), which is featured by early onset tumours of the large bowel (and other target organs), striking aggregation of neoplasms in families, and vertical transmission consistent with an autosomal dominant pattern of inheritance. As a further example of gene/environment interaction, we report on a Hereditary Nonpolyposis Colorectal Cancer family in which two dizygotic twins were affected by cancer of the large bowel. One of the twins was slightly overweight and showed many common risk factors for colorectal carcinoma; he developed a Dukes' C lesion at the age of 52 years. The other twin was not overweight and was much less exposed to exogenous risk factors; a Dukes' B carcinoma was diagnosed at age 60, during a control endoscopy. This anedoctal report suggests that diet and lifestyle are of relevance also in patients with genetically determined tumours of the large bowel. It follows that the control of these environmental factors might be associated with a delay of tumour occurrence and possibly with a less aggressive tumour behaviour. ( info)

5/100. Enteroscopic identification of an adenocarcinoma of the small bowel in a patient with previously unrecognized hereditary nonpolyposis colorectal cancer syndrome.

    Tumors of the small bowel are uncommon and seldom suspected on a clinical basis. Together with the relative inaccessibility of the small bowel to endoscopic investigation, the rarity of these tumors undoubtedly delays their diagnosis. The case reported is of a patient with an adenocarcinoma of the jejunum presenting as gastrointestinal bleeding of obscure origin. diagnosis was by push enteroscopy, after several years of unsuccessful radiological and upper and lower endoscopic evaluation. The patient's family fulfilled the Amsterdam criteria for hereditary nonpolyposis colorectal cancer syndrome, which was previously unrecognized. This report emphasizes the value of push enteroscopy and the limits of radiography of the small bowel when investigating patients with obscure GI bleeding. It also underlines the importance of a careful evaluation of the pedigree (concerning history of colorectal and extracolonic cancer) of all patients, including those who present with adenocarcinoma of the small bowel; it is similarly important to consider the possibility of small bowel cancer in members of families with hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. ( info)

6/100. Lymphoepithelioma-like carcinoma of the colon in a patient with hereditary nonpolyposis colorectal cancer.

    Tumors with features similar to those of nasopharyngeal carcinoma, so-called lymphoepithelioma-like carcinomas, have been described in several organs but are extremely rare in the colon. We describe a patient with a family history consistent with hereditary nonpolyposis colorectal cancer who had 3 malignant lesions in the right colon, namely, a mucinous cancer, a lymphoepithelioma-like carcinoma, and a well-differentiated adenocarcinoma with prominent lymphoid stroma. To the best of our knowledge, lymphoepithelioma-like carcinoma has not been described previously in hereditary nonpolyposis colorectal cancer. ( info)

7/100. Rectal cancer in a 13-year-old boy without a detectable germline mutation in FAP and HNPCC genes.

    Hereditary non-polyposis colorectal cancer (HNPCC) is characterized by familial clustering and early onset. It is unclear, however, whether the early onset of colorectal cancer necessarily represents HNPCC. A 13-year-old patient had rectal cancer and underwent curative surgery. DNA from this patient was examined for replication errors (RER) and genes related to familial colorectal cancer (APC, hMSH2, and hMLH1). The patient had a negative family history of colorectal cancer, did not show the RER phenotype, and had no germline mutation of the APC, hMSH2, and hMLH1 genes. The present case suggests that an unusually young patient with colorectal cancer is not always an HNPCC proband. observation over time, however, will be needed, as a first mutator of familial colorectal cancer could be missed. ( info)

8/100. genetics and colorectal cancer (HNPCC) in adolescence. A case report.

    The authors report a case of non-polyposis colon cancer in a seventeen year old female without prior polyposis or family history. Since it was the first case in this family, HNPCC was suspected. The polymerase chain reaction (PCR) of the tumor revealed changes in four polymorphic regions. Analysis of two of them, indicated the loss of genetic material confirming instability suggestive of HNPCC. The patient underwent ileorectal anastomosis and adjuvant chemotherapy with a good outcome. The authors discuss the importance of family history, genetic and immunohistochemistry studies, and the instability of microsatellites in adolescents with colorectal cancer. ( info)

9/100. Ulcerative colitis patients with a family history of colorectal cancer should be subjected to close and careful surveillance.

    We report two cases affected by neoplasia after colectomy with ileo-rectal anastomosis (IRA) with a positive family history of colon cancer. Case 1, a 41-year-old ulcerative colitis (UC) patient, underwent IRA in 1977. In 1986, biopsies showed high-grade dysplasia. She underwent resection of the rectal stump in 1986. Submucosal invasive carcinoma was found in the surgical specimen. The immunohistological study demonstrated p53 protein overexpression in the neoplastic lesion. Her family history fulfilled the Amsterdam criteria of hereditary non-polyposis colorectal cancer (HNPCC). Case 2, a 47-year-old UC patient, underwent ascending colostomy in 1975 and the following year IRA. Endoscopic mucosal resection (EMR) for a sessile adenoma was performed in 1995 and subsequently polypectomy was performed for the residual tumor. Recurrent adenoma and dysplasia in another area were detected. The immunohistological study demonstrated p53 protein overexpression only in dysplasia. Renal cancer in the right kidney was detected. Resection of the rectal stump with ileal pouch-anal anastomosis (IAA), loop ileostomy and right nephrectomy were performed in 1998. Her mother and her mother's sister had been diagnosed with colon cancer. Only in the dysplastic lesion did we detect microsatellite instability at D5S644. Both cases with neoplasia had two relatives with colorectal carcinoma. In 33 cases with UC who had been followed up, 30 cases (96.8%) without neoplasia had no family history of colorectal carcinoma. These findings suggest that UC patients with a family history of colon cancer should be put under close surveillance. It should also be emphasized that IAA is the procedure of choice for UC patients with this particular condition. ( info)

10/100. Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: problems and pitfalls in an extended pedigree.

    Hereditary non-polyposis colorectal cancer (or Lynch syndrome) is an autosomal dominant disease in which early onset colorectal carcinomas aggregate in families together with tumours of other organs. The genetic basis of the syndrome has been clarified with the identification of mutations in several dna mismatch repair genes (MSH2, MLH1, PMS1, PMS2 and MSH6). We describe the clinical features and molecular characterization of a large hereditary non-polyposis colorectal cancer family which has been followed for almost 10 years. The kindred showed a striking aggregation of colorectal tumours in 3 successive generations; most of these neoplasms developed before the age of 50 years and were localized in the proximal colon. Molecular tests (carried out in ten individuals) showed specific alterations at the MLH1 gene, consisting in the insertion of a T nucleotide between bases 2,269 and 2,270; the mutation caused frameshift of the open reading frame and synthesis of a polypeptide longer than normal. The only tumour that could be analysed was positive for microsatellite instability. physicians should become more confident with hereditary tumours and their implications, which are not limited to a single individual but concern all family members at risk of cancer. This family approach is different, and requires more expertise than the traditional individual approach. Common problems encountered in Hereditary Non-polyposis Colorectal Cancer families include: A) poor collaboration of subjects at risk (a situation which may cause some conflict between the doctor's duty to inform patients about their risk of disease and the rights of patients to choose and decide about their health); B) definition of the most appropriate surveillance programme for a given family (how many investigations to propose to the patients, and how often); C) possible interaction between genes and environmental factors (for instance, a gene carrier--in this family--developed an endometrial carcinoma after standard tamoxifen adjuvant therapy for breast cancer). ( info)
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