myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity

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ID: 214605
2017
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Abstract
It has been suggested that myeloid neoplasms with isolated isochromosome 17q[MN i(17q)] comprise 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 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), suggesting that the i(17q) anomaly is dispensable for the leukemic transformation and highlighting the underlying clinical and molecular complexity which both have to be resolved before the establishment of MN with isolated i(17q) as a distinct entity.
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lamprianidou2017mediterraneanmyeloid Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Eleftheria Lamprianidou;Chryssoula Kordella;Menelaos Papoutselis;Zoi Bezyrgiannidou;Evangelia Nakou;Spyros Papamichos;Emmanouil Spanoudakis;Andreas Giannopoulos;Katerina Zoi;Ioannis Kotsianidis
Journal aktualʹnì pitannâ farmacevtičnoï ì medičnoï nauki ta praktiki
Year 2017
DOI
10.4084/mjhid.2017.066
URL
http://www.mjhid.org/index.php/mjhid/article/view/3127
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