Cancers, Vol. 16, Pages 1693: Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia

Conclusions: KMT2A-PTDs are complex gene rearrangements that cannot be fully ascertained using a single genomic platform. MLPA, NGS panels, and OGM are complementary technologies applied in standard-of-care testing for AML patients. MLPA and NGS panels are designed for targeted copy number analysis; however, our results showed that integration of concurrent genomic alterations is needed for accurate KMT2A-PTD identification. Unbalanced chromosomal rearrangements overlapping with KMT2A can interfere with the diagnostic sensitivity and specificity of copy-number-based KMT2A-PTD detection methodologies.

Source: Cancers - April 26, 2024 Category: Cancer & Oncology Authors: Andrew Seto Gregory Downs Olivia King Shabnam Salehi-Rad Ana Baptista Kayu Chin Sylvie Grenier Bevoline Nwachukwu Anne Tierens Mark D. Minden Adam C. Smith Jos é-Mario Capo-Chichi Tags: Article Source Type: research