Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myelogenous leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.
Translocations involving nucleoporin 98kD (NUP98) on chromosome 11p15 occur at relatively low frequency in AML, but can be missed with routine karyotyping. NUP98 is known to be fused to at least 28 different partner genes in patients with hematopoietic malignancies, including acute myeloid leukemia, chronic myeloid leukemia in blast crisis, myelodysplastic syndrome, acute lymphoblastic leukemia, and bilineage/biphenotypic leukemia.
Clinical Applications
- Acute Myelogenous Leukemia (AML)
- Acute Lymphoblastic Leukemia (ALL)
- Myelodysplastic Syndrome (MDS)