Epidemiological and Molecular Profile of Adult Patients with Acute Lymphoblastic Leukemia in Ceara

ABSTRACT

Objective: About 70% of cases of Acute Lymphoblastic Leukemia (ALL) affect children aged 1- 4 years. The incidence increases slightly again in adults over 50 years, characterizing a poor prognosis. According to data from the National Cancer Institute, for the year 2020 leukemias present in men as the fifth most frequent neoplasm in the Northeast Region with a risk of 8.20/100,000 inhabitants, occupying the fifth position. In the case of women, the risk in the Northeast region is 4.42/100,000 inhabitants and ranks tenth. This study aimed to identify the molecular and epidemiological profile of adult patients with ALL in the state of Ceara. Methodology: Sample collection was performed in patients with ALL treated at the General Hospital of Fortaleza (GHF), considered the main and largest hematology outpatient clinic in the metropolitan region of Fortaleza, as well as the State of Ceara. All patients participating in this study read and signed the informed consent form. Patients with other types of leukemias or other hematological diseases were excluded. This study was approved by the Research Ethics Committee of the Federal University of Ceara under protocol no. 38680520.9.0000.5054. Result(s) From July 2021 to July 2022, 25 patients with ALL were treated, of whom 9 are women and 16 are men. The mean age observed was 42.5 years. 44% of patients live in the capital (Fortaleza), while the other 56% of patients live in rural areas. Through immunophenotyping it was possible to verify that there were 22 patients (88%) compatible with ALL-B presenting CD19, CD10, CD45, CD38, CD22, CD79a, CD34, CD81 and CD58 as the main markers, while only 3 patients (12%) were compatible with ALL-T, expressing mainly CD3, CD45, CD5, CD7, CD2, CD11c and CD1a. Eleven patients (44%) had abnormal and complex karyotypes. Five patients had the BCR-ABL p190 mutation and two had the E2A-PBX1 mutation. A total of 9 patients died due to septic shock, COVID-19, or refractoriness to treatment. Discussion(s) The literature indicates a new peak of ALL cases after 50 years of age, however the highest incidence observed in the study participants was between 30 and 50 years. Studies indicate that immunophenotyping findings in patients with ALL B line are almost always CD19, CD79a, CD10, CD20 and CD22 positive, while T-strain ALL usually present CD7, CD3, CD1a and CD10 as the main markers, corroborating what was observed in the results. In addition, depending on the alteration observed in the karyotype, it may confer poor or good prognosis to the patient. The BCR-ABL1 and E2A-PBX1 mergers, for example, are alterations that give worse prognosis to patients and, therefore, may be targeted for treatment in an attempt to improve the survival of these patients. TEL-AML1 fusion, on the other hand, represents a good prognosis, being more incident in pediatric ALL. Conclusion(s) Epidemiological data from this preliminary study indicate that in the state of Ceara ALL is more common in male patients aged 30-50 years living in rural regions. In addition, the use of targeted therapies for patients with abnormal karyotypes as well as the adoption of stricter measures to prevent hospital infections may increase patient survival. Copyright © 2022