B-Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3);KMT2A Rearranged (BLLKMT2A)

Overview

B-Lymphoblastic Leukemia/Lymphoma with KMT2A (MLL) rearrangement is a distinct aggressive subtype of ALL, most prevalent in infants where it carries a poor prognosis. It is defined by the presence of a translocation involving the KMT2A gene at chromosome 11q23.

Cohorts in the corpus

• all_stjude_2015: Comprehensive profiling of 47 infant cases and 20 older child cases with MLL-R ALL PMID:25730765.

Recurrent alterations

• KMT2A: Rearrangements (11q23 translocations) are the defining primary driver PMID:25730765.
• FLT3: Activating mutations found in 19% of infant MLL-R cases; frequently sub-clonal PMID:25730765.
• KRAS / NRAS: RAS pathway mutations found in ~28% of cases combined PMID:25730765.

Subtypes

• Infant vs. Older Child MLL-R ALL: Infant cases have an exceedingly low somatic mutation rate (mean 1.3 non-silent mutations), whereas older children have a significantly higher burden (mean 6.5) and frequent epigenetic regulator mutations (45%) PMID:25730765.

Therapeutic landscape

• Signaling pathway mutations (Kinase/PI3K/RAS) are frequently lost at relapse, suggesting that standard treatments may fail to eliminate the founder KMT2A-rearranged clone PMID:25730765.

Sources

• PMID:25730765

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