Myelodysplastic neoplasms (MDS) are a diverse group of clonal diseases affecting hematopoietic stem cells (HSCs). They are characterized by ineffective hematopoiesis, cytopenias, dysplasias, and the potential to progress to acute myeloid leukemia. Diagnosis of MDS involves assessing clinical, morphological, and genetic factors. Cytogenetic analysis plays a crucial role in identifying clonality in suspected MDS patients. Approximately 50-60% of patients exhibit cytogenetic abnormalities, with the most common anomalies being del(5q), monosomy or deletion of 7q, trisomy 8, and del(20q).

To show clinical manifestations of a MDS patient with high risk IPSS-R and trisomy 8, mutation of different prognosis.

60-year-old female, reporting no toxic exposure, no elitism or smoking, monitored on the hematology clinic was diagnosed with MDS-IB1 (MDS with increased blasts 1) at the age of 59. The patient has pre-existing conditions including systemic arterial hypertension (SAH) and type 2 diabetes mellitus (DM II) which are treated with losartan, metformin, ferrous sulfate and folic acid. Presents with pancytopenia, including macrocytic anemia (hemoglobin of 6,9 g/dL and VCM of 127 fL), low white cells count (Neutrophils of 1769/mm3), and thrombocytopenia (96,7 x 103/mm3). Bone marrow examination revealed mild hypocellularity as well as dyserythropoiesis, dysgranulopoiesis and 5% blasts. In March 2022, a karyotype examination showed, out of the 26 analyzed metaphases, trisomy 8 in 10 metaphases and trisomy 20 in 10 other metaphases. In February 2023, a follow-up karyotype scan revealed trisomy 8 in 11 out of the 21 metaphases analyzed. Based on risk stratification of IPSS-R and according to the results of hemogram (Low Hemoglobin: 1.5 points, low Absolute Neutrophil Count: 0.5 point, Low Platelets: 0 point) myelogram (percentage of blasts in bone marrow: 2 points), and karyotype (Cytogenetics with intermediate risk: 2 points), the patient obtained a score of 6, classifying her as high risk of evolution to Acute Myeloid Leukemia. Initially, the patient was treated with Erythropoietin (EPREX), but there was no significant improvement in her clinical condition.

This study highlights the presence of high-risk MDS, characterized by the recurrent occurrence of trisomy 8, a mutation that presents a range of different prognosis. It emphasizes the importance of a comprehensive karyotype evaluation and appropriate risk stratification, enabling informed decision-making regarding the patient's treatment. The study of this mutation has shown an improved response to immunosuppressive therapies, indicating a strong presence of an immunological mechanism for bone marrow failure. However, further studies are necessary to determine the optimal therapeutic approach and ensure careful monitoring of this patient's condition.