INTRODUCTION
Diffuse large B-cell lymphoma (DLBCL) is the most common type of
non-Hodgkin lymphoma in adults, while it is rare in children. DLBCL is a
heterogeneous subtype of mature B-cell lymphoma characterized by the
diffuse proliferation of B-cell antigen-expressing lymphoma cells larger
than histiocyte nuclei. DLBCL is associated with frequent gene
translocations, such as IGH -BCL6 , IGH -BCL2 ,
and IGH -MYC .1
KMT2A rearrangement is associated with leukemogenesis in acute
lymphoblastic leukemia (ALL) and acute myeloid leukemia. KMT2Arearrangement in acute leukemia accounts for 5–10% of the total cases
and correlates with poor prognosis.2 However,KMT2A -rearranged lymphoma has not been studied in detail.KMT2A -rearranged lymphomas, especially KMT2A- rearranged
DLBCL, are less frequent than KMT2A -rearranged leukemia and the
majority of those is constituted by lymphoblastic
lymphoma.3-8 KMT2A -rearranged DLBCL can be
detected in a few adult and pediatric patients.9,10
Herein, we describe a pediatric case of KMT2A -rearranged DLBCL.
We performed RNA sequencing (RNA-seq) to understand the molecular
biology of KMT2A -rearranged DLBCL.