Table 2 High confidence mutations and recurrent copy number variants identified by MSK-IMPACT, Ion AmpliSeq, or whole-exome sequencing

From: Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma

Case #

Analysis

Gene

Type of mutation

Protein

MCL amplification

CDKN2A loss

1

MSK-IMPACT

JAK

Missense mutation

p.V1009D

Yes

No

  

DNMT3A

Missense mutation

p.R181H

  
  

TET2

Missense mutation

p.E755K

  
  

ARHGAP26

Missense mutation

p.R103Q

  
  

ROR2

Missense mutation

p.R522Q

  
  

MLL2

Nonsense mutation

p.E3587*

  

2

MSK-IMPACT

MLL2

MLL2

Nonsense mutation

p.R2471*

No

No

   

Frame_Shift_Ins

p.L4518fs

  

3

MSK-IMPACT

NOTCH2

Missense mutation

p.N632S

Yes

No

  

IRF4

Missense mutation

p.E130G

  
  

DNMT3B

Missense mutation

p.G511C

  
  

BCOR

Frame_Shift_Ins

p.E1484fs

  

4

MSK-IMPACT

None

None

None

No

No

5

MSK-IMPACT

MAP2K1

Missense mutation

p.E51G

Yes

No

  

FAM123B

Splice_Site

p.Q2048fs

  
  

MLL3

Frame_Shift_Del

   
  

MAP2K1

In_Frame_Ins

p.59_60insQK

  

6

MSK-IMPACT

EPHA2

Missense mutation

p.A112T

Yes

No

  

BRCA2

Missense mutation

p.G1771D

  

7a

MSK-IMPACT

PTEN

In_Frame_Del

p.T319

No

Yes

  

NPM1

Missense mutation

p.S125L

  
  

MLL3

Missense mutation

p.K992M

  

8

MSK-IMPACT

None

None

None

Yes

No

9

MSK-IMPACT

BAP1

Splice_Site

p.E577_splice

No

No

10

MSK-IMPACT

INPP4A

Missense mutation

p.N308T

No

Yes

  

KDR

Missense mutation

p.M559I

  

11a

MSK-IMPACT

AXIN1

Missense mutation

p.E195*

No

No

  

BAP1

Missense mutation

p.R213H

  
  

FLT4

Splice_Site

p.P1023R

  
  

PBRM1

Missense mutation

   

12

MSK-IMPACT

XPO1

Missense mutation

p.L660F

No

No

13

MSK-IMPACT

PIK3CA

Missense mutation

p.G1049R

No

No

  

EED

Missense mutation

p.N194S

  
  

FGFR4

Frame_Shift

p.R464Pfs*32

  

14

MSK-IMPACT

PIK3CA

Missense mutation

p.H1047R

No

No

  

BAP1

Nonsense mutation

p.S319*

  
  

ATRX

Missense mutation

p.I47V

  
  

CRKL

Missense mutation

p.G136E

  
  

MLL1

Missense mutation

p.I962V

  
  

SPEN

Missense mutation

p.A3060V

  

15

MSK-IMPACT

SMARCA4

Missense mutation

p.R885C

No

Yes

  

NTRK1

Missense mutation

p.G181E

  

16 intraductal & invasive tumor

MSK-IMPACT

ZFHX3

Deletion

p.G3517_G3527del

No

No

17a

MSK-IMPACT

None

None

None

Yes

No

18 primary pancreatic tumor

MSK-IMPACT

CEBPA

Missense mutation

p.R86P

No

No

18 recurrent pancreatic tumor

MSK-IMPACT

CDKN2A

Nonsense mutation

p.Y129*

No

No

  

RET

Missense mutation

p.L80R

  

18 celiac LN metastasis

MSK-IMPACT

None

None

None

No

No

19

Ion AmpliSeq

TRIP11

Missense mutation

p.L872H

Not applicable

Not applicable

20

Ion AmpliSeq

AXL

Missense mutation

p.R190H

Not applicable

Not applicable

  

PIK3CB

Missense mutation

p.L35V

  

21

Whole-exome seq

SYCP1

Splice site mutation

Yes

Yes

  

USH2A

Missense mutation

p.R878C

  
  

SLC4A10

Missense mutation

p.D208H

  
  

CTNNB1

Missense mutation

p.S45F

  
  

CBLB

Missense mutation

p.G259V

  
  

PIK3CA

Missense mutation

p.E545K

  
  

EPHB3

Missense mutation

p.Y855H

  
  

ETFDH

Missense mutation

p.G75D

  
  

FAT1

Missense mutation

p.E2401K

  
  

FAM170A

Missense mutation

p.R65C

  
  

HIST1H4K

Nonsense Mutation

p.E64*

  
  

MYB

Missense mutation

p.R73Q

  
  

MUC12

Missense mutation

p.N4428D

  
  

EHBP1L1

Missense mutation

p.R1138H

  
  

UBASH3B

Missense mutation

p.E257K

  
  

KCNA5

Missense mutation

p.A50V

  
  

TM7SF3

Frameshift Insertion

p.S246fs

  
  

CNTN1

Missense mutation

p.P271L

  
  

OSBPL8

Missense mutation

p.R318Q

  
  

CLK3

Nonsense Mutation

p.Y36*

  
  

TP53

Missense mutation

p.P113L

  
  

MYH13

Missense mutation

p.G203R

  
  

MYH8

Missense mutation

p.R1715H

  
  

KRT26

Missense mutation

p.R93C

  
  

JMJD6

Missense mutation

p.R95G

  
  

NOL4

Missense mutation

p.T119M

  
  

LTBP4

Missense mutation

p.G283D

  
  

ARHGAP35

Nonsense mutation

p.S975*

  
  

FAM71E2

Missense mutation

p.L329M

  

22b

Whole-exome seq

CYR61

Missense mutation

p.C39*

  
  

CHML

Missense mutation

p.D210Y

  
  

SCN9A

Missense mutation

p.S1594T

  
  

KALRN

Missense mutation

p.A364T

  
  

COL6A6

Nonsense mutation

p.R1502H

  
  

PRR14L

Nonsense mutation

p.E658*

  
  

APC

Missense mutation

p.A2T

  
  

HIST1H3G

Missense mutation

p.M448K

  
  

WRN

Missense mutation

p.E226K

  
  

MUC2

Missense mutation

p.A59E

  
  

KRAS

Missense mutation

p.S286T

  
  

DNASE1L2

Missense mutation

p.S82F

  
  

NF1

Missense mutation

p.K1111T

  
  

ZNF208

Missense mutation

p.V30L

YES

YES

  1. aCases 7, 11, and 17 were also subjected to whole-genome sequencing.
  2. bPatient has a history of neurofibromatosis type 1 (von-Recklinghausen’s disease). Recurrent mutations are indicated in bold.