Germline mutations were identified in four Malaysian Lynch syndrome patients. Immunohistochemical analysis of tumor tissue proved to be a good pre-screening test before proceeding to germline mutation analysis of DNA MMR genes.

Lynch syndrome is an autosomal dominant disorder caused by germline mutation affecting mismatch-repair genes. Genetic testing is performed selectively. Diagnosed individuals are to undergo surveillance to detect and manage Lynch syndrome-related cancers early in the course. Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by sebaceous neoplasms, keratoacanthoma, or both in addition to other Lynch syndrome-related cancers. Other neoplasms of the skin, such as squamous cell carcinoma, are not recognized as part of the Lynch syndrome tumor-spectrum. We report a case of cutaneous squamous cell carcinoma occurring in a patient with Lynch syndrome and explore some of the characteristic features and significance of this association.

No abstract

Left ventricular non-compaction (LVNC) cardiomyopathy is an embryological disorder of endocardial trabeculation and can cause heart failure, arrhythmias, and thromboembolism. Lifelong anticoagulation is indicated in patients with reduced ejection fraction due to high risks of thromboembolism. Reduced ejection fraction can develop in these patients as a consequence of this cardiomyopathy, thereby increasing the risk of intracardiac thrombus formation. This new-onset reduced ejection fraction may develop rapidly, which may not be amenable to detection by routine screening. We present a case of non-compaction cardiomyopathy (NCC) with a previously normal ejection fraction who had an ischemic stroke and was found to have new-onset reduced ejection fraction.