Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology

• Published in: Human pathology Vol. 45; no. 3; pp. 643 - 647
• Main Authors: Albano, Francesco, Anelli, Luisa, Zagaria, Antonella, Coccaro, Nicoletta, Tota, Giuseppina, Impera, Luciana, Minervini, Crescenzio Francesco, Cellamare, Angelo, Delia, Mario, Minervini, Angela, Casieri, Paola, Specchia, Giorgina
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2014; Elsevier Limited
• Subjects: Bilobed leukemic blast; Bone marrow; CBFB-MYH11 fusion gene; Chromosome Inversion; Chromosomes, Human, Pair 16; Core Binding Factor beta Subunit - genetics; Female; Fusion transcript variants; Genes; Humans; Leukemia; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - pathology; Middle Aged; Mutation; Myosin Heavy Chains - genetics; Oncogene Proteins, Fusion - genetics; Pathology; t(16;16); Fusion transcript variants; t(16;16); Bilobed leukemic blast; CBFB-MYH11 fusion gene
• ISSN: 0046-8177; 1532-8392; 1532-8392
• DOI: 10.1016/j.humpath.2013.09.013

Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.