Molecular profile in Paraguayan colorectal cancer patients, towards to a precision medicine strategy

Abstract

Somatic mutation analysis and evaluation of microsatellite instability (MSI) have become mandatory for selecting personalized therapy strategies for advanced colorectal cancer and are not available as routine methods in Paraguay. The aims of this study were to analyze the molecular profile as well as the microsatellite status in a series of advanced colorectal patients from two public hospitals from Paraguay, to introduce these methodologies in the routine practice to guide the therapeutic decisions. Thirty‐six patients diagnosed with advanced colorectal cancer from two referent public hospitals from Paraguay were recruited from May 2017 to February 2018. Sequenom Mass spectrometry, Oncocarta Panel V.1 was applied to analyze the mutational profile from formalin‐fixed paraffin‐embedded samples. The microsatellite status was tested by immunohistochemistry (IHC). The mean age of the patients was 52 years with a range from 20 to 74 years. Eighty‐three percent of the patients included in the study have advanced‐stage tumors at the moment of the diagnosis. Sixteen patients (44.4%) were wild‐type for all the oncogene regions analyzed with the Oncocarta panel. Thirty‐two hot‐spot pathogenic variants on seven oncogenes, among 20 patients (55.6%), were identified, including KRAS, NRAS, BRAF, PI3KCA, FGFR, epidermal growth factor receptor, and PDGFRA. Moreover, 14 (38.8%) of these patients presented pathogenic variants in KRAS/NRAS or BRAF genes that have implications in the clinical practice decisions. Five patients (14%) presented MSI. The IHC study for microsatellite status and the molecular profile analysis through Sequenom mass spectrometry are feasible and useful methods, due to identify those patient candidates for targeted therapies and for the budgetary calculations of the National Health Plans.

Clinical, demographic and histopathological characteristics of postoperative colorectal cancer patients admitted to Servicio de Coloproctología at the Hospital Nacional, Itauguá - Paraguay: period 2015 and 2018

“…Escasas publicaciones en Paraguay hasta la fecha requieren de actualizaciones constantes que ayuden a estar actualizados con respecto a la prevalencia de dicha patología y cómo prevenir dicha patología (19)(20)(21) .…”

Detection of KRAS Gene mutations in paraguayan patients with colorectal cancer

“…Junto con los tumores de mama y de pulmón son los que conllevan una mayor mortalidad en todo el mundo. En el Paraguay se tiene un registro de más de 4000 muertes de cáncer por año, de estos 350 corresponden a CCR, siendo la segunda causa de muerte en el país (1).…”