When Clinico-Morphological and Molecular Studies Tell Different Stories: A Case of Myelodysplastic Syndrome

Myelodysplastic syndromes (MDSs) are clonal hematopoietic stem cell disorders characterized by cytopenias, dysplasia in one or more of the major myeloid cell lines, ineffective hematopoiesis, with cellular marrow, and risk for leukemic transformation. We present a case of a 66-year-old male with a history of multiple packed red blood cell (PRBC) transfusions. Routine investigations, bone marrow aspiration, and biopsy were done. The clinical and morphological findings raised suspicion of MDS with isolated del (5q), so cytogenetics was done. When cytogenetics was done, there was a big mismatch in finding between clinical, morphological, and molecular findings which brought a major change in prognosis as well as treatment. It is, therefore, very essential to not rely only on the clinical and morphological findings to reach a diagnosis. Molecular findings play a pivotal role to come to a final conclusion.