ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia ‐related changes and normal karyotype

TheASXL1 mutation frequency is high in AML ‐MRC patients being its presence associated with specific characteristics, including morphological signs of dysplasia. This association raises the possible role ofASXL1 as a surrogate marker in AML ‐MRC, which could facilitate the diagnosis of patients within this group when the karyotype is normal, and especially when the assessment of multilineage dysplasia morphologically is difficult. This mutation could be used as a worst outcome marker in de novo AML‐MRC with intermediate‐risk kar yotype. AbstractAcute myeloid leukemia with myelodysplasia ‐related changes (AML‐MRC) are poor outcome leukemias. Its diagnosis is based on clinical, cytogenetic, and cytomorphologic criteria, last criterion being sometimes difficult to assess. A high frequency ofASXL1 mutations have been described in this leukemia. We sequencedASXL1 gene mutations in 61 patients with AML ‐MRC and 46 controls with acute myeloid leukemia without other specifications (AML‐NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated withASXL1 mutational status. MutatedASXL1 (ASXL1+) was observed in 31% of patients with AML ‐MRC compared to 4.3% in AML‐NOS. Its presence in AML‐MRC was associated with older age, a previous history of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN), leukocytosis, presence of micromegakaryocytes in bone marrow, lower number of blasts in bone marrow, mye...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research