63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene

The Lysine (K)-Specific Methyltransferase 2A (KMT2A) gene (formerly MLL) that resides on human chromosome 11q23 is frequently rearranged in de novo and therapy related leukemia. KMT2A translocations with various partner genes are often easily detected by classic molecular and cytogenetic approaches. However, the detection of small intragenic insertions, the partial tandem duplications of the KMT2A gene (KMT2A-PTD), is challenging. Additional co-occurring alterations, such as Trisomy 11 which alerts one to the PTD, may further hamper the identification of KMT2A-PTD.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Jos é-Mario Capo-Chichi, Andrew Seto, Olivia King, Shabnam Salehi-Rad, Ana Baptista, Grenier Sylvie, Bev Nwachukwu, Anne Tierens, Andrea Arruda, Mark Minden, Adam Smith Source Type: research