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: Maria Jacqueline Nieto, Angela Scalise, Vesna Najfeld
• Journal: Acta haematologica (Acta Haematol) Vol. 133 Issue 1 Pg. 1-5 ( 2015) ISSN: 1421-9662 [Electronic] Switzerland
• PMID: 24968822 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 S. Karger AG, Basel.

Chemical References

• NPM1 protein, human
• Nucleophosmin
• Proto-Oncogene Proteins c-kit

Topics

• Chromosomes, Human, Pair 13
• Cytogenetic Analysis
• Disease Progression
• Exons
• Female
• Hematopoietic Stem Cell Transplantation
• Humans
• Leukemia, Myeloid, Acute (diagnosis, genetics, pathology, therapy)
• Middle Aged
• Mutation
• Nucleophosmin
• Proto-Oncogene Proteins c-kit (genetics)
• Recurrence
• Remission Induction
• Transplantation, Homologous
• Treatment Outcome
• Trisomy