Annals of Case Reports and Clinical Studies | Volume 2, Issue 1 | Case Report | Open Access
Ben Ammar S*
Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University Tunis El Manar, Tunisia
*Correspondence to: Ben Ammar SFulltext PDF
Acute Myeloid Leukemia (AML) with recurrent t(8;21)(q22;q22) and inv16(p13q22) genetic abnormalities are termed as Core Binding Factor (CBF)-AML. CBF genetic abnormalities are usually mutually exclusive.
Here, we report a case of an 11-year-old patient diagnosed with a de novo acute myeloid leukemia AML4-eos according to WHO classification. Cytogenetic approaches revealed association of inv(16) and t(8;21)(q22;q22). Molecular testing confirmed the presence of both RUNX1-RUNX1T1 and CBFb-MYH11 fusion genes.
Even though the CBF-AML have usually a good prognosis, it was not the case with our patient. After successful chemotherapeutic treatment the patient experienced a relapse and died one year after initial diagnosis.
To the best of our knowledge, a comparable AML associated with coexistence of RUNX1-RUNX1T1 and CBFB-MYH11 at diagnosis as the primary tumor was not previously reported. Thus, the combination of the here seen fusion genes seems to indicate an adverse prognosis.
Acute myeloid leukemia; Core binding factor; RUNX1-RUNX1T1; CBFB-MYH11
Ben Ammar S, Mnekbi Y, Kallel F, Kasdallah M, Amouri H, Menif.Co-Expression of RUNX1-RUNX1T1 and CBFB-MYH11 Transcripts in a De Novo Acute Myeloid Leukemia: a First Case Report.Ann Case RepClinStud.2023;2(1):1-5.