Eleftheria Lamprianidou1, Chryssoula Kordella1, Menelaos Papoutselis1, Zoi Bezyrgiannidou1, Evangelia Nakou1, Spyros Papamichos1, Emmanouil Spanoudakis1, Andreas Giannopoulos2, Katerina Zoi2 and Ioannis Kotsianidis1.
1 Department of Hematology, Democritus University of Thrace Medical School, Alexandroupolis, Greece.
2 Haematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
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neoplasms with isolated isochromosome 17q [MN i(17q)] has been
described as a distinct entity with poor prognosis. However, literature
reports show a considerable clinical and molecular heterogeneity. We
describe a 58-year-old male patient who was diagnosed as refractory
anemia with multilineage dysplasia and ringed sideroblasts with
isolated i(17q). Though he initially responded well to erythropoietin,
he gradually progressed to an aggressive form of MDS/MPN refractory to
azacytidine and died 29 months after the first diagnosis. Notably, in
contrast to disease advancement, his karyotype reverted to normal,
whereas his mutational profile remained unchanged. To our knowledge,
this is the first report of karyotype normalization during disease
progression in patients with MN i(17q). It suggests that the i(17q)
anomaly is dispensable for the leukemic transformation and highlighting
the underlying clinical and molecular complexity which both has to be
resolved before the establishment of MN with isolated i(17q) as a
|Figure 1. Morphological and immunophenotypic characteristics of i(17q).
a) May-Grünwald-Giemsa stained peripheral blood smear at diagnosis revealed a hyposegmented neutrophils with ringed nuclei (×100).
b) Representative flow cytometry plots showing blast positivity (black color) for CD34, CD117, HLA-DR, CD33 and CD13 and negativity for CD19, CD10, CD15 and CD7.
c) Course of Hemoglobin, white blood cells (WBC), absolute neutrophils counts (ANC) and platelets during patient follow up. Recombinant erythropoietin was administered at the times indicated by solid arrows. Dashed arrow shows initiation of 5-azacytidine.
|Table 1. Clinical and biological characteristics of MDS patients with i(17q) in studies including ≥ 10 patients.|
|Table 2. Most frequently mutated genes in isolated i(17q).|
|Supplementary Figure S1. Interphase FISH from peripheral blood at diagnosis and at disease progression. FISH analysis was performed with probes for TP53 and ERBB2 gene. In isochromosome 17q formation the first gene is deleted and the second triplicated. At first diagnosis uniallelic TP53 expression (A) and triplication of ERBB2 (B) gene was found in 51% of intrephase cells confirming the presence of i(17)q anomaly. By contrast, at leukemic progression TP53 deletion was not observed (C) and ERBB2 (D) gene was normally expressed.|