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Case Presentation: Myelodysplastic Syndrome Case Presentation
Patient Case:
In this case, the patient is a 49-year-old woman who presented to her primary care physician with chest palpitations upon exertion. A full workup revealed a macrocytic anemia; mean corpuscular volume measures of 117, hemoglobin of 6.9, white blood count of 3.5, absolute neutrophil count of 2.8, and platelet count of 269. The patient’s folate, B12, and iron studies read as normal and there was no evidence of acute gastrointestinal bleeding.
She began to feel better following a blood transfusion of 2 units of packed red blood cells. A bone marrow biopsy was completed, which demonstrated hypercellular marrow with megakaryocytic dysplasia. The biopsy returned with the diagnosis of myelodysplastic syndrome (MDS) with isolated deletion of 5q, and additional results revealed the bone marrow aspirate had 3% blasts.
The biopsy also noted hypercellularity with megakaryocyte atypia. Additionally, genetic studies in the bone marrow biopsy with both the standard karyotype and [fluorescence in situ hybridization] (FISH) reveal 5q as the sole abnormality in 17 out of 20 cells, with the other 3 cells presenting a normal female karyotype. However, a broad molecular panel including all genes on the modern [International Prognostic Scoring System–Molecular] (IPSSM) panel identified an ASXL1 mutation and an [isocitrate dehydrogenase 1] (IDH1) mutation at the R132 residue with a variable frequency of 31%.
With this diagnosis, the hematologist recognized isolated deletion 5q as being highly responsive to lenalidomide and recommends this therapy for the patient. Within 6 weeks, the patient has a complete hematologic response and tolerates the therapy well.
