Microsatellite instability and DNA methylation of endometrial tumors and clinical features in young women compared with older women.

Introduction: Molecular genetic changes in endometrial cancers are important to identify possible family cancer syndromes and thus, to facilitate appropriate screening. Most studies in this regard have focused primarily on young women. We have assayed cancers for microsatellite instability (MSI) and DNA methylation from a large group of patients younger than 50 years and a comparable group of older women.

Rapid progression of littoral cell angioma of the spleen in a man with multiple infections.

Littoral cell angioma is an uncommon primary vascular neoplasm of the spleen. It frequently follows a benign course, but cases with aggressive behavior have been described. We present a case of this rare disease highlighting radiological examinations showing a rapid increase in the size of the spleen as well as an increase in the number and size of existing nodules.

Molecular genetic changes associated with colorectal carcinogenesis are not prognostic for tumor regression following preoperative chemoradiation of rectal carcinoma.

Purpose: Preoperative chemotherapy and radiation has become the standard of care for many patients with rectal cancer. The therapy may have toxicity and delays definitive surgery. It would therefore be desirable to identify those cancers that will not regress with preoperative therapy.

Adequacy of colonoscopic biopsy specimens for molecular analysis: a comparative study with colectomy tissue.

Molecular analyses of tumors are increasingly useful for prognosis and for guiding therapy. Colonoscopic biopsy provides the first source of tissue for most cases of colorectal carcinoma and therefore might become an important source for molecular analyses. We have addressed the question whether molecular analyses of colonoscopic biopsy yield results similar to the findings from the surgical specimen.

Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.

Background: The authors evaluated the frequency of the carrier status of three ancestral colorectal neoplasm-associated mutations (APC:I1307K, BLM(Ash), and MSH2*1906G>C) found in the Jewish population among a case series with documented colorectal neoplasms. They further compared family and personal histories plus environmental exposures of the carriers and noncarriers of the I1307K mutation and examined clinical differences with regard to the colorectal neoplasms and the specific molecular genetic changes in these lesions.

Methods: Analyses were performed on tissue from stored paraffin-embedded blocks for the three germline mutations plus the KRAS mutation and APC loss of heterozygosity (LOH) and APC gene sequencing.