Dramatic increase in gene mutational burden after transformation of follicular lymphoma into TdT⁺ B-lymphoblastic leukemia/lymphoma.

ABSTRACT: Transformation of follicular lymphoma (FL) into B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is rare and results in greatly increased aggressiveness of clinical course. Here we present extensive molecular analysis of this unusual transformation, including immunoglobulin (Ig) gene rearrangement studies, cytogenetic analysis, and whole-exome sequencing (WES) of the patient's FL, B-ALL/LBL, and normal cells. Although FL showed marked somatic hypermutation (SHM) of the Ig genes, SHM appeared to be even more extensive in B-ALL/LBL. Cytogenetically, at least three translocations were identified in the B-ALL/LBL involving the BCL2, BCL6, and MYC genes; two of these, the BCL6 and BCL2 gene rearrangements, were already seen at the FL stage. WES identified 751 sin

SUBMITTER: Belman JP 

PROVIDER: S-EPMC6996523 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature