Chromosome 5q deletion is extremely rare in patients with myelofibrosis

Chromosome 5q deletion can be found in rare cases of myelofibrosis (MF) but the incidence, clinical significance and response to therapies are not well studied. We retrospectively reviewed charts of 939 patients with MF and identified 8 patients [0.8%] who carried 5q deletion. Of the 8, seven had complex cytogenetic abnormalities and one had additional clone with different cytogenetic abnormality. All 8 had significant three-lineage pancytopenia. Three patients took lenalidomide and one (patient with 5q-clone) achieved long-lasting hematologic response. Two patients responded to JAK2 inhibitor therapy. MF patients with 5q deletion often have complex karyotype and poor outcome.