Editorial: Serrated Polyposis: The Last (or Only the Latest - Frontier of Familial Polyposis (Lynch Syndrome/familial/pre-malignant adenomas)

 Wiki:  Sessile serrated adenoma

 In gastroenterology, a sessile serrated adenoma (abbreviated SSA), also known as sessile serrated polyp (abbreviated SSP), is a premalignant flat (or sessile) lesions of the colon, predominantly seen in the cecum and ascending colon.

Editorial: Serrated Polyposis: The Last (or Only the Latest|[quest]|) Frontier of Familial Polyposis|[quest]| : The American Journal of Gastroenterology

The American Journal of Gastroenterology 107, 779-781 (May 2012) | doi:10.1038/ajg.2012.62

Editorial: Serrated Polyposis: The Last (or Only the Latest?) Frontier of Familial Polyposis?

Stephen J Lanspa, Dennis J Ahnen and Henry T Lynch

Abstract

Serrated polyps are thought to be precursors of ~15% of colorectal cancers and clinical criteria for a serrated polyposis (SP) syndrome have been proposed. In this issue of American Journal of Gastroenterology, Win et al. report that family members of individuals who meet the clinical criteria for SP are at increased risk for colorectal and possibly pancreatic cancer. The important data presented by Win et al. strongly support the concept that familial SP exists and help define the patterns of risk in this syndrome. The paper also illustrates the difficulties of trying to define a genetic syndrome on the basis of largely retrospective clinical data and highlights the importance of efforts to define the genetic basis of familial SP and to study these families in a systematic, prospective manner.

abstract: Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

Hum Pathol. 2012 Apr 17;


Abstract

Immunohistochemical detection of DNA mismatch repair proteins and polymerase chain reaction detection of microsatellite instability have enhanced the recognition of mismatch repair-deficient neoplasms in patients with Lynch syndrome and, consequently, led to the identification of tumors that have not been included in the currently known Lynch syndrome tumor spectrum.

Here, we report 4 such unusual tumors. Three of the 4, a peritoneal mesothelioma, a pancreatic acinar cell carcinoma, and a pancreatic well-differentiated neuroendocrine tumor, represented tumor types that, to the best of our knowledge, have not been previously reported in Lynch syndrome. The fourth tumor was an adrenocortical carcinoma, which has rarely been reported previously in Lynch syndrome. Three of our 4 patients carried a pathogenic germ-line mutation in a mismatch repair gene. The unusual tumor in each of the 3 patients showed loss of the mismatch repair protein corresponding to the mutation. The fourth patient did not have mutation information but had a history of colonic and endometrial carcinomas; both lacked MSH2 and MSH6 proteins. Interestingly, none of the 4 unusual tumors revealed microsatellite instability on polymerase chain reaction testing, whereas an appendiceal carcinoma from 1 of the study patients who was tested simultaneously did. The recognition of such tumors expands the repertoire of usable test samples for the workup of high-risk families.

As yet, however, there are no data to support the inclusion of these tumors into general screening guidelines for detecting Lynch syndrome, nor are there data to warrant surveillance for these tumors in patients with Lynch syndrome.

Bulletin du Cancer - What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers

Bulletin du Cancer

Summary : The aim of this survey of practice was to define, in the absence of guideline, the management in France of asymptomatic men bearing a mutation of BRCA1 or 2 genes. A questionnaire was addressed to 90 oncogenetics centers. We obtained the answers of 34 practitioners working in 58 centers. Among the responders, 85.3% offered a systematic genetic test in all cases to determine the risk of transmission to the children and to offer a personal follow-up in 79.4 % of cases. This screening was directed towards prostate cancer, breast cancer and pancreatic cancer in respectively 94.1, 67.6 and 47.1% of cases. The screening of prostate cancer was mainly proposed to men bearing a BRCA2 mutation and from the age of 40 years. It was based on clinical examination and testing of prostate specific antigen. The screening of breast cancer was mainly proposed to men bearing a BRCA2 mutation and based on clinical examination and self-palpation without stating a started age. The screening of pancreatic cancer was mainly proposed to men with familial history of pancreatic cancer and from the age of 40 years. It was based on tomography and MRI. For the majority of answerers, the general practitioner was the best to perform all these screenings. These experts’ opinions can help to establish guidelines for the global management of asymptomatic men carriers of BRCA1 or 2 mutations.

abstract: Combined treatment of L1CAM antibodies and cytostatic drugs improve the therapeutic response of pancreatic and ovarian carcinoma

Abstract:  The adhesion molecule L1CAM (CD171) accounts for enhanced motility, invasiveness and chemoresistance of tumor cells and represents a novel marker for various tumor entities including pancreatic and ovarian carcinoma. Recently, we showed that L1CAM inhibition increases the apoptotic response of tumor cells towards cytostatic drugs pointing to the potential of L1CAM to serve as a chemosensitizer in anti-cancer therapy. Thus, the present study evaluated the therapeutic potential of combined treatment with L1CAM antibodies and chemotherapeutic drugs in pancreatic and ovarian carcinoma model systems in vivo.....

Ovarian Metastases of Pancreaticobiliary Tract Adenocarcinomas: Analysis of 35 Cases, With Emphasis on the Ability of Metastases to Simulate Primary Ovarian Mucinous Tumors

abstract: Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study : The Lancet Oncology (multi-national study)

Note: (abstract) study includes 194 mutation carriers with references to pancreatic and duodenal cancers; more information on EPCAM genetics can be found by searching this blog

Duodenal cancer - Wikipedia Duodenal cancer is a cancer in the beginning section of the small intestine. It is relatively rare compared to gastric cancer and colorectal cancer. en.wikipedia.org/wiki/Duodenal_cancer

Cancers | Free Full-Text | Familial Pancreatic Cancer (extensive lain english review)

Note: see table 1 for spectrum of genes eg; MSH 1/2/6, FAMM, BRCA2....

recruiting: Clinical Outcomes in Hereditary Cancer - Full Text View - ClinicalTrials.gov BRCA/pancreatic/breast

Purpose

Compare the clinical characteristics and post-surgical outcomes (overall survival)of pancreatic cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 .

Compare the clinical characteristics and outcomes (time to progression) of breast cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 receiving paclitaxel chemotherapy for metastatic disease.

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families.