Journal Article

First case of B ALL with KMT2A-MAML2 rearrangement: a case report

Beaufils, Nathalie, Gabert, Jean, Lafage Pochitaloff, Marina, Balducci, Estelle, Menu, Estelle, Costello, Regis, Usseglio, Fabrice

2017

Overview

Background A large number of chromosomal translocations of the human KMT2A gene, better known as the MLL gene, have so far been characterized. Genetic rearrangements involving KMT2A gene are frequently involved in lymphoid, myeloid and mixed lineage leukemia. One of its rare fusion partners, the mastermind like 2 ( MAML2 ) gene has been reported in four cases of myeloid neoplasms after chemotherapy so far: two acute myeloid leukemias (AML) and two myelodysplasic syndrome (MDS), and two cases of secondary T-cell acute lymphoblastic leukemia (T-ALL). Case presentation Here we report the case of a KMT2A - MAML2 fusion discovered by Next-Generation Sequencing (NGS) analysis in front of an inv11 (q21q23) present in a 47-year-old female previously treated for a sarcoma in 2014, who had a B acute lymphoid leukemia (B ALL). Conclusion It is, to our knowledge, the first case of B acute lymphoblastic leukemia with this fusion gene. At the molecular level, two rearrangements were detected using RNA sequencing juxtaposing exon 7 to exon 2 and exon 9 to intron 1–2 of the KMT2A and MAML2 genes respectively, and one rearrangement using Sanger sequencing juxtaposing exon 8 and exon 2.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Acute lymphoblastic leukemia / Acute myeloid leukemia / B-Lymphocytes - pathology / Biomedical and Life Sciences / Biomedicine / Bone marrow / Cancer / Cancer Research / Cancer therapies / Care and treatment / Case Report / Case reports / Cell and molecular biology / Chemotherapy / Chromosome translocations / Chromosomes / Diagnosis / DNA-Binding Proteins - genetics / Exons - genetics / Female / Fusion protein / Gene Rearrangement / Genes / Genetics / Genomics / Health Promotion and Disease Prevention / Hematology / High-Throughput Nucleotide Sequencing / Histone-Lysine N-Methyltransferase - genetics / Human genetics / Human health and pathology / Humans / KMT2A rearrangement / Leukemia / Leukemia, Biphenotypic, Acute - genetics / Leukemia, Biphenotypic, Acute - pathology / Life Sciences / Lymphatic leukemia / Lymphocytes T / MAML2 gene / Medicine/Public Health / Middle Aged / MLL protein / Myelodysplastic syndrome / Myeloid-Lymphoid Leukemia Protein - genetics / Next-Generation Sequencing / Nuclear Proteins - genetics / Oncogene Proteins, Fusion - genetics / Oncology / Radiation therapy / Ribonucleic acid / RNA / Sarcoma / Secondary ALL / Surgical Oncology / T cells / Transcription Factors - genetics