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Treatment related Myelodysplastic Neoplasm

Author: Imad Karam, MD, 09/07/2024
Category: Red Cell: Disorders of Iron Metabolism and Heme Synthesis > Sideroblastic anemias > Acquired/Reversible Sideroblastic Anemias > Myelodysplastic Syndromes
Published Date: 09/20/2024

A 67-year-old male was treated with cisplatin, etoposide, and radiation for a biopsy-proven hilar small cell carcinoma. He was in remission for one year but presented seven months later with shortness of breath, weakness, fatigue, and weight loss. Follow-up imaging indicated stable disease, yet lab results revealed significant normocytic anemia (hemoglobin of 5g/dl) and severe thrombocytopenia (platelet count of 22,000/mm3). He had no signs of bleeding. His peripheral blood smear showed decreased platelet counts and giant platelets, with abnormally shaped and nucleated red blood cells. Given these findings, a bone marrow biopsy was performed which was hypercellular for age with trilineage hematopoiesis. Interestingly, marked erythroid hyperplasia with maturation and erythroid dyserythropoiesis (megaloblastosis and multinucleation) were reported. While Fluorescence in-situ Hybridization analysis was negative for typical therapy-related MDS abnormalities, cytogenetics results were significant for an inactivating TP53 mutation. Additionally, chromosomal analysis revealed an abnormal karyotype in 80% G-banded metaphase cells compatible with clonal neoplasm. There is evidence of balanced reciprocal translocation t(2;3)(p23;p25); loss of chromosome 4,5,14,19 and 21; unbalanced rearrangements of 8p; 17q;18q;21p and 22p; a der(7;8)(q10;q10); net loss of 7p; partial deletion of 17p with potentially a resultant loss of TP-53.  The patient was diagnosed with therapy-related myelodysplastic neoplasm (MDS) and subsequently became transfusion-dependent. The patient dies a few weeks after diagnosis.