Autosomal monosomies among 24,262 consecutive cytogenetic studies: Prevalence, chromosomal distribution and clinicopathologic correlates of sole abnormalities

Monosomal karyotype (MK) has recently been associated with poor prognosis in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and primary myelofibrosis (PMF). The objectives of the current study were to describe the prevalence and spectrum of autosomal monosomies in an unselected cohort of patients with known or suspected hematologic malignancies. Bone marrow cytogenetic studies (24,262) were performed at our institution between 1989 and 2009. An abnormal karyotype was demonstrated in 6,565 cases (similar to 27%); of these, 1,365 (similar to 21%) included autosomal monosomies that occurred as sole (n 5 133; similar to 10%), part of two (n = 82; similar to 6%) or more (n = 1,150; similar to 84%) anomalies. All 22 autosomes were involved, but monosomy 7 was by far the most frequent, constituting similar to 80% of all isolated monosomies and the highest fraction of those with two or more abnormalities. Other recurrent sole monosomies included chromosomes 20 (similar to 11%) and 21 (similar to 4%). Monosomy 13 (similar to 10%), 20 (similar to 8%), 18 (similar to 7%), 17 (similar to 6%), 21 (similar to 5%), 5 (similar to 5%), and 12 (similar to 4%) were also recurrent in the setting of >= 2 abnormalities. Bone marrow histology and clinical information were reviewed in all cases with isolated monosomy; associated clinical phenotypes were MDS (n = 60; 52 were 27), AML (n = 32; 31 were 27), myeloproliferative neoplasms (n = 16; 10 were 27), chronic myelomonocytic leukemia (CMML; n = 10; 9 were 27) and other nonmyeloid malignancies (n = 15; 4 were 27). Sole monosomy 20 (n = 14; six MDS, five MPN, and three nonmyeloid) was not seen in AML or CMML. Sole monosomy 21 was more frequent in nonmyeloid as opposed to myeloid cases. Am. J. Hematol. 86:353-356, 2011. (C) 2011 Wiley-Liss, Inc.