EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53

Table 1

Genetic alterations comprising pathogenic mutations and VOUSs (variants of unknown significance) detected in the patient’s PTLD specimen.

Gene	Protein change	cDNA change	Categorization	Allele frequency
ABL1		c.2648delG	VOUS	36.3
ASXL1		c.1934delG	Pathogenic	18.63
ASXL1	p.A1016V	c.C3047T	VOUS	32.09
ASXL1	p.C1240F	c.G3719T	VOUS	42.79
ATM	p.E871K	c.G2611A	VOUS	37.24
BCOR	p.P1621Qfs 53	c.4862delC	Pathogenic	31.07
BCOR	p.L1333M	c.C3997A	VOUS	57.17
BCOR	p.P407L	c.C1220T	VOUS	52.6
BCOR	p.P178L	c.C533T	VOUS	19.94
BCORL1	p.T39M	c.C116T	VOUS	23.36
BCORL1	p.R500H	c.G1499A	VOUS	63.21
BRINP3	p.A437T	c.G1309A	VOUS	36.36
CDH2	p.L870M	c.T2608A	VOUS	34.9
CDKN2A	p.R58	c.C172T	Pathogenic	38.3
DNMT3A	p.A70V	c.C209T	VOUS	35.05
ETV6	p.R259W	c.C775T	VOUS	38.87
EZH2	p.Y330C	c.A989G	VOUS	53.56
FBXW7	p.R441Q	c.G1322A	VOUS	45.79
KIT	p.P468L	c.C1403T	VOUS	36.26
KIT	p.N564D	c.A1690G	VOUS	35.63
NF1	p.P464L	c.C1391T	VOUS	38.12
NF1	p.Q2147	c.6439_6441delinsTAG	Pathogenic	35.66
RUNX1	p.R250C	c.C748T	VOUS	38.67
SETBP1	p.R54H	c.G161A	Likely benign	45.23
SETBP1	p.G1392S	c.G4174A	VOUS	39.64
SETBP1	p.R589	c.C1765T	VOUS	38.75
SF1	p.N200Y	c.A598T	VOUS	39.27
SMC1A	p.R1066H	c.G3197A	VOUS	25.34
STAG2	p.S853R	c.T2559A	VOUS	14.12
TET2	p.A347V	c.C1040T	VOUS	38.03
TET2	p.V1900I	c.G5698A	VOUS	36.76
TP53	p.G245S	c.G733A	Pathogenic	38.4
TP53	p.E56K	c.G166A	VOUS	40.77
TP53	p.R306	c.C916T	Pathogenic	40.02
U2AF2	p.R44H	c.G131A	VOUS	20.15

ABL1: Abelson Tyrosine Kinase; ASXL1: Additional Sex Combs-Like 1; BCOR: BCL6 Corepressor; BCORL1: BCL6 Corepressor-Like 1; BRINP3: BMP/Retinoic Acid Inducible Neural Specific 3; CDH2: Cadherin 2; CDKN2A: cyclin-dependent kinase inhibitor 2A; DNMT3A: DNA methyltransferase 3 alpha; ETV6: ETS (erythroblast transformation-specific) variant 6; EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit; FBXW7: F-Box and WD Repeat Domain Containing 7; KIT: KIT Protooncogene Receptor Tyrosine Kinase; NF1: Neurofibromin 1; RUNX1: Runt Related Transcription Factor 1; SETBP1: SET Binding Protein 1; SF1: Splicing Factor 1: SMC1A: Structural Maintenance of Chromosomes 1A; STAG2: Stromal Antigen 2: TET2: Tet Methylcytosine Dioxygenase 2: TP53: Tumor Protein P53; U2AF2: U2 Small Nuclear RNA Auxiliary Factor 2.