Human Pathology: Case Reports (Jun 2020)
Novel KMT2A-ATP5L gene fusion in a young adult with rapidly progressive Ph-like t(9;12) acute B lymphoblastic leukemia
Abstract
Chromosomal abnormalities involving 11q23 with Lysine [K]specific MethylTransferase 2A (KMT2A) gene rearrangement are common among children with aggressive acute leukemias. In KMT2A-rearranged adult Acute Lymphoblastic Leukemia (ALL), five translocation partner genes account for greater than 95% of KMT2A fusion genes. Rearrangements in the KMT2A gene tend to be associated with poor prognoses. Overexpression of genes secondary to KMT2A rearrangement contributes to cancer cell survival and growth. The identity of the KMT2A fusion partner gene may also affect the ultimate phenotype of an acute leukemia. We present a case of acute B-lymphoblastic leukemia in a 26-year-old male with a translocation between chromosomes 9 and 12 and novel structural genomic alteration, t(11) (q23.3), resulting in KMT2A-ATP5L gene fusion with dismal prognosis. This structural alteration, not yet reported to our knowledge in the scientific literature, may represent an additional unfavorable prognostic marker in young adults with Philadelphia chromosome (Ph)-like ALL.
