Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma

Rearrangements involving KMT2A are common in de novo and therapy-related acute myeloid and lymphoblastic leukemias. There is a diverse recombinome associated with KMT2A involving at least 135 partner genes, with more being discovered due to advances in molecular genetic diagnostics. KMT2A-ARHGEF12 f...

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Bibliographic Details
Published in:Cancer genetics 2021-11, Vol.258-259, p.23-26
Main Authors: Schafernak, Kristian T., Williams, James A., Clyde, Benjamin I., Marcus, Chelsea, Decker, Brennan, Toydemir, Reha M.
Format: Article
Language:English
Subjects:
ARHGEF12
B-cell lymphoma
Child
Gene Rearrangement
Genomic microarray analysis
Histone-Lysine N-Methyltransferase - genetics
Humans
KMT2A
Lymphoma, B-Cell - genetics
Lymphoma, B-Cell - pathology
Male
Myeloid-Lymphoid Leukemia Protein - genetics
Next generation sequencing
Oncogene Proteins, Fusion - genetics
Prognosis
Rho Guanine Nucleotide Exchange Factors - genetics
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Summary:Rearrangements involving KMT2A are common in de novo and therapy-related acute myeloid and lymphoblastic leukemias. There is a diverse recombinome associated with KMT2A involving at least 135 partner genes, with more being discovered due to advances in molecular genetic diagnostics. KMT2A-ARHGEF12 fusion has only rarely been reported, in five cases of acute leukemia and a single case of high-grade B-cell lymphoma. We present a 12-year-old boy with high-grade B-cell lymphoma and KMT2A-ARHGEF12 fusion, whose clinical, morphologic, phenotypic and genotypic profile is strikingly similar to the other case of high grade B cell lymphoma, both otherwise perfectly mimicking Burkitt lymphoma.
ISSN:2210-7762
2210-7770
DOI:10.1016/j.cancergen.2021.06.006