Abstract

Background: Human immunodeficiency virus (HIV) infection represents a chronic disease that must be treated with lifelong antiretroviral therapy (ART). Individuals with HIV are at increased risk of developing some cancers, including hematolymphoid malignancies. However, knowledge of myelodysplastic neoplasm (MDS) in HIV patients remains limited. Several studies have shown that HIV-positive MDS patients present at a younger age, progress more rapidly to acute myeloid leukemia (AML), and have poorer overall survival. Moreover, these patients have an increased prevalence of high-risk cytogenetic and molecular alterations. We report the first case of MDS with biallelic TP53 inactivation according to the new WHO classification in an HIV patient in a well-controlled environment.
Methods: A bone marrow examination (BME) was performed to determine the cause of the patient's pancytopenia. In addition, karyotyping, FISH, and next-generation sequencing (NGS) were performed to diagnose the subtype of the disease.
Results: BME showed multilineage dysplasia and increased blasts, chromosome and FISH results were abnormal, and two TP53 mutations were detected by NGS.
Conclusions: When considering the possibility of hematological malignancies in HIV patients with cytopenia, it is necessary to include MDS. Furthermore, more active investigations, including BME, especially genetic testing, are needed to determine the incidence, pathophysiology, and outcome of MDS in HIV patients.

DOI: 10.7754/Clin.Lab.2025.250703