, Volume 86, Issue 10, pp 763-765
Date: 17 Jul 2007

Sustained expression of nucleophosmin (NPM1) mutation at late relapse presenting as isolated myeloid sarcoma in a patient with acute myeloid leukemia

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Dear Editor,

We report on a 49-year-old female patient with M2 acute myeloid leukemia (AML) initially presenting in 2003 with normal cytogenetics and a retrospectively determined nucleophosmin (NPM1) subtype A mutation. A complete remission was achieved by the first induction chemotherapy before three consolidation courses. In 2005, AML relapsed as myeloid sarcoma while there was still no evidence of relapse in the bone marrow. Molecular analysis using mutation specific primers reveal NPM1 mutation positive cells only in the skin lesion.

NPM1 mutations within exon 12 represent the most frequent molecular aberration in AML patients and can be found in about 50% of patients with a normal karyotype [1]. Until now, more than 40 different subtypes of NPM1 mutations have been described, and it could be demonstrated that NPM1 mutations of subtype A and B form the majority of these aberrations (about 90%). Furthermore, the presence of isolated NPM1 mutations is associated with a better prognosis ...