Case report of isochromosome 17q in acute myeloid  leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent.
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.
Programa de Pós-Graduação em Ciências Médicas, Departamento de Medicina, Universidade Federal do Ceará, Fortaleza, CE, Brasil.
J C
JC
Sousa
R T
RT
Germano
C C M
CC
Castro
S M M
SM
Magalhaes
R F
RF
Pinheiro
D001374:Azacitidine / Q000009:adverse effects / Q000031:analogs & derivatives*; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D000077209:Decitabine; D017809:Fatal Outcome; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced* / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000139:chemically induced* / Q000150:complications / Q000235:genetics
D000077209:Decitabine; D001374:Azacitidine