Trisomy 11 in myelodysplastic syndromes defines a unique group of disease with aggressive clinicopathologic features

Trisomy 11: prevalence among 22 403 unique patient cytogenetic studies and clinical correlates

“…IDH1 mutations have no impact on event-free survival in AML patients, except that they have an unfavorable effect on event-free survival in those with intermediate-risk karyotype. 3,4 The fourth exon of both IDH1 and IDH2 genes encodes three arginine residues (R100, R109 and R132 in IDH1 and R140, R149 and R172 in IDH2) that are important for the activity of the proteins. 5 Here we have analyzed the sequence of the fourth exon of IDH1 and IDH2 genes established from the bone marrow DNA of 100 cases of myelodysplastic syndrome (MDS) including all subtypes of the WHO 2008 classification, 90 cases of MDS/ myeloproliferative neoplasm (MPN), including 88 cases of chronic myelomonocytic leukemia and 2 cases of refractory anemia with ringed sideroblast and thrombocytosis, and 41 cases of AML post-MDS and AML post-MDS/MPN, referred to as secondary AML (sAML).…”

“…2 However, only one patient remained in first complete remission after undergoing allogeneic bone marrow transplantation. In a recent Leukemia paper, Wang et al 3 identified 42 cases (0.008%) with trisomy 11 among B5000 patients with myelodysplastic syndrome (MDS) or MDS with myeloproliferative features. Seventeen of the 42 patients (median age, 75 years) had trisomy 11 as a sole abnormality (n ¼ 10) or together with one or two additional abnormalities.…”

“…Therefore, although it is reasonable to conclude that trisomy 11 clusters with AML and higher-risk MDS, it is both scientifically inaccurate and practically extraneous to suggest its formal categorization as a 'poor' outcome karyotype in MDS. 3 …”

Specific abnormalities versus number of abnormalities and cytogenetic scoring systems for outcome prediction after allogeneic hematopoietic SCT for myelodysplastic syndromes

“…Cytogenetic classes included: (i) Specific cytogenetic abnormalities (abn), either individual or regrouped on the basis of common physiopathological background (as, for example, P53 inactivation in 17p deletion and monosomy 17) and shared prognostic information (as for chromosome 11 translocations and trisomy 11). 5,12 In detail, the following abnormalities were individualized: Del 7q, monosomy 7 (−7), del 5q, monosomy 5/translocation 5 (−5), trisomy 8, 3q21q26 (inv(3)(q21q26.2) or t(3;3)(q21q26.2)), chromosome 11 (abn 11) (including t(v;11)(v;q23), del 11q with ⩾ 2 additional abn and trisomy 11), chromosome 17 (abn 17) (including 17p − / − 17 and del(17)(q23)); (ii) IPSS-R five-group cytogenetic classification, focusing on the very poor category (VPK); 4,5 (iii) Presence of monosomal karyotype (MK), that is, at least two autosomal monosomies or one autosomal monosomy in combination with ⩾ 1 structural abn. 6 In the case of cytogenetic clonal evolution, the most recent karyotype before HCT was used.…”

Adult Chronic Myelomonocytic Leukemia with Trisomy 11: A Case Report

“…Estimating the prevalence or incidence of cmml harbouring trisomy 11 is difficult because of the scarcity of published studies and the infrequency of cases 5,10 . In a large study of 1084 patients with mds, trisomy 11 was found in 28 patients (prevalence of 3%), mostly as part of complex karyotypes instead of as an isolated abnormality 11 .…”