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The diffuse variant of follicular lymphoma (dFL) is a rare variant of FL lacking t(14;18) that was first described in 2009. In this study, we use a comprehensive approach to define unifying pathologic and genetic features through gold-standard pathologic review, FISH, SNP-microarray, and next-generation sequencing of 16 cases of dFL. We found unique morphologic features, including interstitial sclerosis, microfollicle formation, and rounded nuclear cytology, confirmed absence of t(14;18) and recurrent deletion of 1p36, and showed a novel association with deletion/CN-LOH of 16p13 (inclusive of  CREBBP ,  CIITA , and  SOCS1 ). Mutational profiling demonstrated near-uniform mutations in  CREBBP  and  STAT6 , with clonal dominance of  CREBBP , among other mutations typical of germinal-center B-cell lymphomas. Frequent  CREBBP  and  CIITA  codeletion/mutation suggested a mechanism for immune evasion, while subclonal  STAT6  activating mutations with concurrent  SOCS1  loss suggested a mechanism of BCL-xL/BCL2L1 upregulation in the absence of  BCL2  rearrangements. A review of the literature showed significant enrichment for 16p13 and 1p36 loss/CN-LOH,  STAT6  mutation, and  CREBBP  and  STAT6  comutation in dFL, as compared with conventional FL. With this comprehensive approach, our study demonstrates confirmatory and novel genetic associations that can aid in the diagnosis and subclassification of this rare type of lymphoma.

CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma