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Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent.

Abstract
Isochromosome 17q is a relatively common karyotypic abnormality in medulloblastoma, gastric, bladder, and breast cancers. In myeloid disorders, it is observed during disease progression and evolution to acute myeloid leukemia in Philadelphia-positive chronic myeloid leukemia. It has been reported in rare cases of myelodysplastic syndrome, with an incidence of 0.4-1.57%. Two new agents have been approved for treatment of myelodysplastic syndrome/chronic myelomonocytic leukemia. These are the hypomethylating agents, 5-azacytidine and decitabine, recommended by consensus guidelines for high-risk myelodysplastic syndrome patients not eligible for hematopoietic stem cell transplantation. We present a case of chronic myelomonocytic leukemia with normal cytogenetics at diagnosis treated with decitabine (with good response); however, the patient evolved to acute myeloid leukemia with i(17q) shortly after suspending treatment. To the best of our knowledge, this is the first report of acute myeloid leukemia with myelodysplasia-related changes with i(17q) after the use of a hypomethylating agent.
AuthorsJ C Sousa, R T Germano, C C M Castro, S M M Magalhaes, R F Pinheiro
JournalGenetics and molecular research : GMR (Genet Mol Res) Vol. 11 Issue 3 Pg. 2045-50 (Aug 06 2012) ISSN: 1676-5680 [Electronic] Brazil
PMID22911588 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Decitabine
  • Azacitidine
Topics
  • Azacitidine (adverse effects, analogs & derivatives)
  • Cell Transformation, Neoplastic (pathology)
  • Chromosomes, Human, Pair 17 (genetics)
  • DNA Methylation (genetics)
  • Decitabine
  • Fatal Outcome
  • Humans
  • Isochromosomes (genetics)
  • Karyotyping
  • Leukemia, Myeloid, Acute (chemically induced, complications, genetics)
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes (chemically induced, complications, genetics)

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