Genética hereditária: pesquisas atuais

Abstrato

Report of a PMS2 Germline Mutation Patient Presenting with Endometrial and Parotid Cancer

Mariela Rodríguez-Suárez, Yaritza Díaz-Algorri, Robert Hunter-Mellado, Luis Ferrer-Torres and Marcia Cruz-Correa

Colorectal cancer (CRC) is the second leading cause of cancer among men and women and represents the leading cause of cancer death in Puerto Rico. Familial CRC accounts for 10-15% of the total CRC cases, with Lynch syndrome (LS) implicated in 2-4% of cases. Limited information is available on the prevalence, clinical manifestations, and genetic mutations of hereditary CRC in USA Hispanics. In this paper we report a PMS2 mutation in a Puerto Rican Hispanic patient with LS recruited through the Puerto Rico Familial Colorectal Cancer Registry. At the age of 35 years our proband was diagnosed with endometrial cancer with parotid cancer established the following year. A diagnosis of Lynch Syndrome was established through analysis of protein expression by immunohistochemistry and genetic sequencing of mismatch repair genes. Mutation in the PMS2 gene is rarely linked with LS. This case report adds Parotid Carcinoma to the spectrum of malignant conditions associated to LS. We emphasize on the importance of genetic testing in at-risk patients for hereditary CRC from various racial backgrounds, and underscore the need for genetic counselling of patients and their family members. Recognition of LS carriers will allow early detection of malignant condition and the implementation of effective therapy, which will ultimately improve prognosis.