Session Time: 1:45pm-3:15pm
Location: Agora 3 West, Level 3
Objective: To analyze the prevalence and type of neoplasms in patients with HD and to contrast it with the data of the general population in Argentina.
Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative entity. Characterized by choreic movements, behavioral, psychiatric alterations and cognitive deterioration. Caused by an expansion of the CAG triplet on chromosome 4p16.3, responsible for coding a protein called Huntingtin (HA). EH is within the group of Diseases related to Polyglutamine (EPolyQ) or expansion disorders of trinucleotides. In recent years emphasis has been placed on the role of EPolyQ and their risk in the development of oncological pathology. Several studies conducted trying to demonstrate a correlation between the two have shown dissimilar results.
Method: Database of patients with genetic diagnosis of HD evaluated by the department of abnormal movements of a specialized center, in the last 5 years. It was compared with the registry of the National Cancer Institute (INC) discharged in the publication of Epidemiological Surveillance year 2016.
Results: From our series of 120 patients, 3 patients with diagnosis of confirmed neoplasia with histopathological study were identified. The prevalence in our series was 2.5%. Two male patients, one of them with Non-Hodgkin’s Lymphoma (NHL), while the other, Undifferentiated Carcinoma of the Maxillary Sinus. The female patient presented NHL. Our country has middle-high cancer incidence with 217 cases per 100,000 inhabitants.
Conclusion: We have observed in our series a low number of neoplasms, this coincides with that observed in previous International Publications. However, we believe that it is necessary to increase the number of patients in our series to make statistically significant conclusions. In Argentina, as far as we know, there are no concrete data on this subject.
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To cite this abstract in AMA style:D. Dias, E. Gatto, J. Etcheverry, M. Cesarini, G. da Prat, F. Peralta Calderon. Tumor Pathology in Patients with Huntington’s Disease in a Specialized Center of Buenos Aires, Argentina (Preliminary Data) [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/tumor-pathology-in-patients-with-huntingtons-disease-in-a-specialized-center-of-buenos-aires-argentina-preliminary-data/. Accessed December 5, 2023.
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