MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge
BMJ case reports
A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for
Sanders DS, Fennell T, Chisti MM. MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge. BMJ Case Rep. 2019 Apr 20;12(4):e227768. doi: 10.1136/bcr-2018-227768. PMID: 31005862; PMCID: PMC6506002.