title: Cytogenetically normal acute myeloid leukemia with a novel KIT mutation in exon 11 G565V developing a sole trisomy 13 at relapse: a clinical dilemma.
abstract: We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and was negative for NPM1 and FLT3 mutations, but had a KIT G565V mutation in exon 11. This has not been described previously in AML. The patient received induction and consolidation chemotherapy and was in hematologic remission for 351 days when deletion 7q was cytogenetically detected in 8% of the bone marrow cells. After an initial treatment of azacitidine followed by decitabine, an unrelated trisomy 13 clone was identified, followed by subclonal rearrangement of ETV6. The patient underwent reinduction with high-dose cytarabine and mitoxantrone followed by voluntary-unrelated-donor allogeneic stem cell transplantation with a reduced-intensity conditioning. As of writing, the patient is in complete hematologic and cytogenetic remission with 100% donor cell engraftment.
authors: Department of Medicine, Tisch Cancer Institute, Ichan School of Medicine at The Mount Sinai, New York, N.Y., USA.
authors: Maria Jacqueline
authors: MJ
authors: Nieto
authors: Angela
authors: A
authors: Scalise
authors: Vesna
authors: V
authors: Najfeld
mesh_terms: D002882:Chromosomes, Human, Pair 13; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005091:Exons; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D008875:Middle Aged; D009154:Mutation; D000090243:Nucleophosmin; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012008:Recurrence; D012074:Remission Induction; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D014314:Trisomy
chemical_list: C000716967:NPM1 protein, human; D000090243:Nucleophosmin; D019009:Proto-Oncogene Proteins c-kit