Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation

Atypical ringed sideroblasts in association with trisomy 19 and myelodysplasia

“…Of the only two with details provided concerning presentation and clinical course, one actually had AML, at diagnosis, and the other, RAEB-1 (Schwartz et al 1986;Jung et al 2008). Such limited material suggests the intermediate risk assigned to AISA/RARS with this isolated chromosomal pattern would be speculative (Bernasconi et al 2005).…”

“…AISA/RARS represents approximately 15-20% of all MDS and the progression to AML seen in perhaps 10-16% of such cases, occurs less commonly than with other forms of MDS (Natelson 2007;Bejar and Ebert 2010;Cuijpers et al 2010;Bernasconi et al 2005;Pozdnyakova et al 2008;Schwartz et al 1986). A wide variety of clonal cytogenetic aberrations is described in MDS, with an interstitial (5q-) deletion or a complete loss of chromosome 5 most frequent (Bejar and Ebert 2010;Cuijpers et al 2010;Bernasconi et al 2005;Pozdnyakova et al 2008;Schwartz et al 1986). Among all MDS subsets, chromosomal aberrations are least commonly identified in AISA/RARS, and also include 5q-, along with loss of part or all of chromosome 7 or 7q-(−7/7q-), 20q-, and trisomy 8 (Natelson 2007;Schwartz et al 1986).…”

“…This unique disorder is characterized by macrocytosis, a dimorphic erythrocyte population, large numbers of ringed sideroblasts among bone marrow erythroid precursors, and often a slowly progressive clinical course complicated by increased risk of iron overload and acute myeloid leukemia (AML) (Brunning et al 2008;Natelson 2007;Bejar and Ebert 2010;Cuijpers et al 2010). AISA/RARS represents approximately 15-20% of all MDS and the progression to AML seen in perhaps 10-16% of such cases, occurs less commonly than with other forms of MDS (Natelson 2007;Bejar and Ebert 2010;Cuijpers et al 2010;Bernasconi et al 2005;Pozdnyakova et al 2008;Schwartz et al 1986). A wide variety of clonal cytogenetic aberrations is described in MDS, with an interstitial (5q-) deletion or a complete loss of chromosome 5 most frequent (Bejar and Ebert 2010;Cuijpers et al 2010;Bernasconi et al 2005;Pozdnyakova et al 2008;Schwartz et al 1986).…”

“…A wide variety of clonal cytogenetic aberrations is described in MDS, with an interstitial (5q-) deletion or a complete loss of chromosome 5 most frequent (Bejar and Ebert 2010;Cuijpers et al 2010;Bernasconi et al 2005;Pozdnyakova et al 2008;Schwartz et al 1986). Among all MDS subsets, chromosomal aberrations are least commonly identified in AISA/RARS, and also include 5q-, along with loss of part or all of chromosome 7 or 7q-(−7/7q-), 20q-, and trisomy 8 (Natelson 2007;Schwartz et al 1986). Trisomy 19, as a sole chromosomal abnormality, is occasionally associated with chronic myelomonocytic leukemia (CMML) and other hematologic and solid tumor malignancies, but rarely documented in AISA/RARS (Jung et al 2008;Daskalakis et al 2006).…”