TEST NAME
– CEBPA (Full Gene Mutation Analysis)
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ABOUT TEST
– Acute myeloid leukemia (AML) is a heterogeneous group of diseases with variable survival rates, disease course, and response to therapy. Diagnostic testing for CEBPA gene mutations is the standard of care for cytogenetically normal acute myeloid leukemia (CN-AML). CEBPA, a single-exon gene, encodes a leucine zipper transcription factor with an important role in myeloid differentiation. CEBPA mutations are encountered in approximately 8% to 15% of AML and are one of the most common mutations in CN-AML. CEBPA mutations are a favorable prognostic factor for AML, particularly in patients harboring double CEBPA mutations.
The mutations can occur across the whole gene, but there are two main hotspots. N-terminal out-offrame mutations are located between the major translational start site and a second ATG further downstream. They abolish translation of the full-length p42 isoform of CEBPA, leading to overexpression of a shorter dominant-negative p30 isoform. C-terminal mutations are generally in-frame insertions/deletions located in the basic leucine zipper (bZIP) domain; these mutations disrupt binding to DNA or dimerization. Most AML patients with double CEBPA mutations harbor both N- and C-terminal mutations, which are typically present on different alleles; however, homozygous mutations have also been described.
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GENES TESTED
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SAMPLE REQUIREMENTS
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TAT
– 17
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Related Tests
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