Table 1.

Summary of somatic mutations identified by exome sequencing, validated by Sanger sequencing, and subjected to ultradeep sequencing

Exome sequencing SNV/InDel frequency [% (variant/total reads)]Sanger sequencing confirmedUltrasensitive deep sequencing Donor leukocyte infusion
Gene mutationDonor'sRecipient'sMutant readsMutant freq (× 102)Ratio to germlineaEnriched in DLINominal P valueFinal annotation
Donor's FLRecipient's FLFLFLDLI
BCL2 S203N13 (2/15)30 (3/10)++680.146504.92+<10e−10Identical mutations in both lymphomas
BCL2 *206R20 (2/10)0 (0/7)++950.165478.26+<10e−18
C10orf120 Q181H3 (1/31)b50 (6/12)++10880.433553.99+<10e−134
CTSS M185V30 (14/47)13 (1/8)b+2150.130621.75+<10e−7
EP300 V1148_F1149del15 (5/33)27 (7/26)++6280.0900293.35+< 10e−15
GCLC R423K16 (6/19)40 (4/10)++9760.108183.71+<10e−94
GLI2 G1083R23 (2/13)29 (2/7)++390.233763.46+<10e−4
GPR112 W71R19 (15/78)28 (14/50)++19810.314354.77+<10e−282
GPR116 S494I13 (1/8)b29 (4/14)++5250.044896.34+<10e−67
HIST1H3G A115T16 (5/32)b43 (6/14)++280.02315≤1NA
KLHL6 K485_T486insK18 (9/50)21 (4/19)++1470.03850115.31+< 10e−15
SHANK2 R374Q24 (10/41)33 (4/12)++4580.693772.59+<10e−36
TAIP-2 V12A29 (16/55)28 (7/25)++9650.205343.94+<10e−133
TIGD6 C307Y21 (8/38)22 (7/32)++16770.322103.48+<10e−177
TLN2 T588M17 (10/60)21 (5/24)++4160.262854.76+<10e−59
ATP6V1B2 R400Q19 (6/32)0 (0/27)+6550.089122.28+<10e−39Unique mutations in donor's FL
RFTN1 V254M28 (14/50)0 (0/27)+190.04519≤1NA
ARID1A R1276*0 (0/11)60 (6/10)+c640.05055≤1NAUnique mutations in recipient's FL
FGF23 A12T0 (0/3)25 (2/8)+c1520.05837≤1NA
HMCN1 T5167M0 (0/45)16 (5/32)+c7470.10826≤1NA
PLCE1 S1151T0 (0/45)29 (4/14)+c510.001151.250.33
  • NOTE: The Bonferroni-adjusted 2-sided P value of 0.00238 was the level determining statistical significance.

    Abbreviations: SNV/InDel, single nucleotide variation/insertion/deletion; DLI, donor lymphocyte infusion; FL, follicular lymphoma; NA, not applicable.

  • a Donor buccal swab served as germline.

  • b Mutation initially not identified in filtered exome sequencing dataset (<2 variant reads or Phred score <30) but subsequently recovered by visualization of reads using IGV (Integrated Genome Viewer v2.0).

  • c Mutations also not detectable in recipient buccal swab.