Acute Myeloid Leukemia With Myelodysplasia-Related Changes

作者：Vardiman James^*; Reichard Kaaren

来源：American Journal of Clinical Pathology, 2015, 144(1): 29-43.

DOI：10.1309/AJCP58RSMFRHLHHH

• Acute leukemia
• Myelodysplasia
• AML, NPM1

Objectives: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous disorder defined by morphologic, genetic, or clinical features. Genetic abnormalities associated with AML-MRC are often associated with adverse prognostic features, and many cases are preceded by a myelodysplastic syndrome (MDS) or a myelodysplastic/myeloproliferative neoplasm.
Methods: Although the criteria of 20% or more blasts in blood or bone marrow and multilineage dysplasia affecting 50% or more of cells in two or more of the myeloid lineages seem straightforward for AML-MRC, identification of morphologic dysplasia among observers is not always consistent, and there is morphologic overlap with other leukemic disorders such as acute erythroleukemia.
Results: Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML, associated with the cryptic t(5;11)(q35,p15),NUP98-NSD1 that may masquerade as a del(5q). However, most cases of AML-MRC were usually associated with adverse genetic abnormalities, particularly -5/del(5q), -7/del(7q), and/or complex karyotypes.
Conclusions: Whole-genome sequencing and array studies may identify? genetic abnormalities, such as those affecting TP53, which may provide prognostic information.

• 出版日期2015-7