5q Deletion Myelodysplastic Syndrome in a Young Male Patient

Myelodysplastic syndromes (MDS) are a diverse group of hematopoietic stem cell malignancies with various phenotypic variability that are categorized by abnormal differentiation of one or multiple cell lines of the bone marrow. A large part of the phenotypic heterogeneity is in part due to the wide set of genetic defects related to MDS. Though clinically, MDS is centered on diagnostic measures that do not incorporate molecular genetic data, an isolated deletion of the long arm of chromosome 5 (del(5q)) is the only subset of MDS to be identified by genetic defects. This distinctive phenotype is termed 5q-syndrome. We report a case of a 25-year-old with a past medical history of polydactyly, severe anemia, and thrombocytopenia who presented to the emergency department with a chief complaint of weakness and fatigue. Bone marrow biopsy showed myeloid neoplasm with complex genetic abnormalities, nearly 100% hyperplastic marrow with marked trilineage dysplasia, relative myeloid hyperplasia with increased abnormal eosinophilic precursors, erythroid left shift, and atypical megakaryocytes. Fluorescence in situ hybridization (FISH) panel showed deletion of 5q-. Herein, we address the clinical course and morphological characteristics as well as possible therapeutic options for 5q syndrome.