Mutational profile of PTNFL. (A) Mutational profile of PTNFL. The table includes genes with somatic nonsynonymous variants identified in >2 cases by targeted and WES of PTNFL samples. A known gain-of-function mutation in RHOA is also included. Top rows delineate whether whole exome (black, initial 6 exomes; gray, subsequent exomes; white, indicates not sequenced) or targeted sequencing was performed. Amino acid substitutions are indicated for MAPK pathway alterations. MAPK variants identified in samples with paired sequencing are delineated by bold text. The number “2” indicates multiple missense variants. (B) Comparison of mutation frequencies among PTNFLs and 2 cohorts of advanced stage FL (GSLG and BCCA). The differences in mutational frequencies between PTNFL vs GSLG, and PTNFL vs BCCA were statistically significant for KMT2D (P < 10−6, P < 10−5), CREBBP (P < 10−5, P < 10−6), BCL2 (P < 10−5, P < 10−6), and EZH2 (P = .05, P < 10−4). (C) Mutational frequencies of CREBBP and TNFRSF14 in PTNFL vs LSTFL. CREBBP mutations were present in 83% of LSTFLs vs 4% of PTNFL (P < 10−6). TNFRSF14 mutations were present in 29% of PTNFLs vs 41% of LSTFLs (P = .35).
