Case Reports
Vol. 9 No. 1 (2017): Review, Original Articles, Case Reports
Myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: August 31, 2017
Accepted: October 12, 2017
Accepted: October 12, 2017
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Hematology
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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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Citations
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Case ReportHow to Cite
“Myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity” (2017) Mediterranean Journal of Hematology and Infectious Diseases, 9(1), p. e2017066. doi:10.4084/mjhid.2017.066.
