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Updated: Dec 7, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia
Sneha Tandon1, Mary Shago2, Scott Davidson3
1Division of Hematology and Oncology, University Hospital Southampton, United Kingdom.
Insights
Infant acute lymphoblastic leukemia (ALL) has poorer survival rates. A novel KMT2A-MAML1 gene translocation was identified in a newly diagnosed infant with precursor B-ALL.
Area of Science:
- Oncology
- Genetics
- Pediatric Hematology
Background:
- Infant acute lymphoblastic leukemia (ALL) accounts for 2.5%-5% of pediatric ALL cases.
- Infants with ALL exhibit inferior survival rates compared to older children.
- KMT2A gene rearrangements are present in 80% of infant ALL cases, indicating a poor prognosis.
Observation:
- Over 94 partner genes have been associated with KMT2A rearrangements.
- Common KMT2A rearrangements include t(4;11)(q21;q23)KMT2A-AFF1, t(11;19)(q23;p13.3)KMT2A-MLLT1, and t(9;11)(p22;q23)KMT2A-MLLT3.
- A novel translocation, t(5;11)(q35;q23)KMT2A-MAML1, was identified in a newly diagnosed infant with precursor B-ALL.
Findings:
- The study reports a novel KMT2A-MAML1 gene fusion in infant precursor B-ALL.
- This finding expands the spectrum of known KMT2A rearrangements in infant leukemia.
Implications:
- Further long-term follow-up and larger patient cohorts are necessary to ascertain the prognostic significance of the KMT2A-MAML1 translocation.
- Understanding novel genetic alterations in infant ALL is crucial for developing targeted therapies and improving outcomes.
Abstract:
Infant acute lymphoblastic leukemia (ALL) comprises 2.5%-5% of pediatric ALL with inferior survival compared to older children. A majority of infants (80%) with ALL harbor KMT2A gene rearrangement, which portends a poor prognosis. Approximately 94 different partner genes have been identified to date. The common rearrangements include t(4;11)(q21;q23)KMT2A-AFF1,t(11;19) (q23;p13.3)KMT2A-MLLT1 and t(9;11)(p22;q23)KMT2A-MLLT3. We report a novel translocation t(5;11)(q35;q23)KMT2A-MAML1 in newly diagnosed infant precursor B-ALL. Long-term follow-up and a larger number of patients are needed to better understand its prognostic significance.
