LMI-09GLIOBLASTOMA MULTIFORME AS A SECOND NEOPLASM IN AN ADOLESCENT WITH ATAXIA-TELANGIECTASIA

Abstract

Introduction: Ataxia telangiectasia (AT) is an autosomal recessive hereditary disease characterized by neurological deterioration, telangiectasiasa and immunodeficiency. The cause is a punctual mutation in ATM gene localized in chromosome 11q22.3-23.1, which translates into a phosphoinositol 3-kinase protein. This protein regulates the cell cycle and the repair of the DNA. This defect partially explains the increased risk of cancer. The association of the AT with cancer has been alreadyestablished, being the major incidence of leukemias and lymphomas. In the literature, seven girls have been reported with the association ofAT and germ cell solid tumors, specifically with dysgerminoma. CASE REPORT: We present a 12-year-old female who was diagnosed with AT since 3 years of age. She presented recurrent respiratory tract infections requiring multiple hospitalizations and was treated with immunoglobulin and antimicrobial prophylaxis. She was admitted in the emergency ward with acute abdomen and was evaluated by surgical oncology and operated. An abdominal mass was found and resected. Pathology reported an ovaric mixed germ cell tumor with coriocarcinoma and dysgerminoma. Few months later she was diagnosed with glioblastoma multiforme. She died with no surgery or radio/chemotherapy treatment, only palliative care. Conclusion: AT is associated with leukemias and lymphomas. We report a case of an AT patient with ovarian tumor, coriocarcinoma and dysgerminoma components and a glioblastoma multiforme. A special approach and more wide vision is proposed for these inmunocompromised patients who are living more time and are at high risk of cancer but may not tolerate standard treatments.