Acquired del(9)(p22.3) in a primary plasma cell leukemia

BACKGROUND: Plasma cell leukemia (PCL) is a rare lymphoproliferative disorder, accounting for 1-2% of all plasma cell neoplasms, characterized by the presence of >2 × 10(9)/l of plasma cells circulating in the peripheral blood, and exists in two forms: primary PCL (pPCL, 60% of the cases), and secondary PCL (sPCL), the latter being a leukemic transformation in patients with a previously diagnosed multiple myeloma. PCL is an aggressive disease with poor prognosis and a short median survival of 7 months. RESULTS: Here, we report a pPCL case with hepatosplenomegaly, anemia, thrombocytopenia, fever, fatigue, weight loss, and plasma cell count up to 60% in peripheral blood and 80% in bone marrow. Immunophenotype was compatible with PCL. A del(9)(p22.3) was characterized using banding cytogenetics and array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail. CONCLUSION: To the best of our knowledge, this is the first report of pPCL associated with a partially monosomy 9pter to 9p22.3 as a sole chromosomal abnormality.