Presentamos el caso de una paciente de 46 años de edad procedente de Génova, Quetzaltenango, Guatemala; casada, analfabeta, ama de casa, religión evangélica; quien acude a la consulta externa del Hospital de Quetzaltenango con antecedente de dolor de mes de evolución en fosa ilíaca derecha, tipo cólico sin irradiación, que se atenuaba parcialmente con ibuprofeno. Historia obstétrica-ginecológica de 4 gestas, 4 partos, 4 hijos vivos y menarquia a los 11 años. Es remitida al Hospital Roosevelt, ubicado en la ciudad de Guatemala, donde se le realiza una histerectomía abdominal total. El espécimen se envió al departamento de patología, donde se realizaron todos los estudios anatomopatológicos e inmunohistoquímicos.

Masculino de 35 años, con disminución gradual bilateral de la agudeza visual de 5 semanas de evolución. Se realiza campimetría, evidenciando 0% de campo visual en ojo izquierdo y 84% en ojo derecho con hemianopsia temporal, por lo que se realizan estudios de imagen para descartar lesión en quiasma óptico. Tanto la tomografía axial computarizada (TAC) como la resonancia magnética nuclear (RMN) cerebral, evidencian inflamación en el entrecruzamiento del nervio óptico hacia el cerebro (neuritis óptica). Así mismo, se le realiza estudio inmunológico para la detección de anticuerpos anti acuaporina 4 (anti-AQP4) siendo éste positivo, por lo que se trata como neuromielitis óptica (NMO), fue tratado con esteroides a altas dosis, pero no se observó ninguna mejoría, por lo que apoyado en las guías de tratamiento de la Sociedad Americana de Aféresis (ASFA), Recambio Plasmático Terapéutico (RPT) / plasmaféresis terapéutica, dando resultados positivos desde la primera sesión.

BACKGROUND The majority of cancer are sporadic, only around 5 % are considered hereditary. Although it is a low percentage, the study of these cancers are of vital importance, since they require a special clinical monitoring and management. These kind of cancers are caused by the presence of an inherited gene mutation, which increase the risk of developing a tumor. The mutations associated with these tumors are germline mutations, this means that are present in all the patient's cells, including the egg cell an sperm; this is the reason why this type of cancer can transmit to the future generations. There are many syndromes that increase the risk of hereditary cancer development, the most frequent syndromes are: Familial Breast and Ovarian cancer (BRCA1 and BRCA2 gene mutations), Lynch syndrome (MSH2, MLH1, MSH6 and PMS2 mutations), Li-Fraumeni syndrome (TP53 gene mutations) and Familial adenomatous polyposis (APC gene mutations). The aim of this study is to screen the most common hereditary cancer syndromes in Guatemalan population. METHODS We analyzed 199 blood samples of patients with different types of tumors. We extracted DNA from the samples and then analyzed the gene mutations by next generation sequencing. RESULTS AND DISCUSSION We have included in the present study, 93 cases with Familial Breast cancer and 106 with another type of tumors. Of all cases, we have found 17 cases with hereditary cancer syndromes (8%). The most frequent is the Breast and Ovarian hereditary syndrome caused by BRCA1 and BRCA2 (12 patients). The other hereditary cancer syndromes are shown in Table 1. The detection of this germline mutations, have a large impact in the familial cases, because these patients and their families could be monitored and evaluated more frequently. This is the first report of these syndromes in our population. CONCLUSION We reported 6 different syndromes and 17 cases, related to hereditary cancer risk and predisposition in Guatemalan population. Frequency of hereditary cancer syndromesSYNDROMENUMBER OF PATIENTSCANCER TYPEAGESEXGENE MUTATIONBreast and ovarian hereditary syndrome7Breast cancer29-48FBRCA1Breast and ovarian hereditary syndrome5Breast cancer29-71FBRCA2Lynch syndrome1Breast cancer80FMSH6Li-Fraumeni syndrome1Breast cancer58FTP53Breast hereditary cancer1Breast cancer57FCDH1Peutz-Jeghers syndrome1Pancreatic cancer15FSTK11Familial adenomatous polyposis1Colorectal cancer13MAPC Citation Format: Claudia L. Carranza, Mariela Guerra, Claudia Osorio, Vanessa Zamora, Vivian Herrera, Jose Gil, Luis Alvarez. Hereditary cancer syndromes in Guatemalan population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 4166.