Deletion of 16q11 is a recurrent cytogenetic aberration in acute myeloblastic leukemia during disease progression

Abnormalities of chromosome 16 other than inv(16)(p13q22), t(16;16)(p13;q22 ), and del(16)(q22) have not been fully characterized in acute myeloblastic leukemia (AML) and myelodysplastic syndrome (MDS). We report here the firs t case of AML with dcl(16)(q11) as a sole abnormality. A 53-year-old woman was initially diagnosed as MDS, refractory anemia with excess of blasts in transformation with normal karyotype. After sixteen months, the disease pro gressed to overt AML-Ml. Myeloblasts were positive for CD13, CD33, and CD34 , but negative for HLA-DR. Chromosome analyses of the bone marrow cells sho wed 46,XX,del(16)(q11) in all metaphase spreads. Multicolor spectral karyot yping also confirmed that del(16)(q11) was not derived from a cryptic trans location, but a simple deletion. Our results, together with three previousl y reported cases, suggest that del(16)(q11) may be one of the recurrent abe rrations in AML and that it could be associated with clonal evolution or di sease progression. (C) 2001 Elsevier Science Inc. All rights reserved.