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Table 3 Gene altered in MA

From: Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases

Gene

Number of mutation events (frequency)

Exon_Rank

Missense or stop-gained mutations

Base mutation

Synonymous or intronic mutations

Base mutation

BRAF

23

15

p.V600E, LOC100507389-BRAF, STARD9-BRAF, CUX1-BRAF

c.1799 T > A, chrom3:142634278_7:140492322, chrom15:42936216_7:140492968, chrom7:101809365_7:140492220

\

\

NF1

6

43, 46, 32

p.G1403S, p.Y2285*

c.4207G > A, c.6855C > A

p.S2152=

c.6456 T > C

NOTCH1

5

29, 32, 14

p.D1808N, p.H2018Q, p.D740N

c.5422G > A, c.6054C > A, c.2218G > A

\

\

SPEN

5

11, 2

p.R807H, p.R128C

c.2420G > A, c.382C > T

p.K926=

c.2778A > G

AKT2

4

NA

\

 

cn_amp

\

APC

4

16

p.L662I

c.1984C > A

p.P1634=

c.4902G > A

ATRX

3

9

\

\

p.T899=, p.S651=

c.2697G > A, c.1953 T > G

ETV4

3

NA

\

\

cn_amp

\

FANCD2

2

25, 30

p.N791S, p.T981I

c.2372A > G, c.2942C > T

\

\

FAT3

2

20, 23

p.R3849Q

c.11546G > A

p.Y4222=

c.12666C > T

KDR

2

10, 15

p.W460 L, p.I753V

c.1379G > T, c.2257A > G

\

\

NOTCH3

2

4, 24

p.A198V

c.593C > T

p.P1331=

c.3993G > A

TET2

2

11

p.E1973K, p.N1765 K

c.5917G > A, c.5295C > G

\

\

TSC2

2

30, 35, 5

p.V1144 M, p.E1513K

c.3430G > A, c.4537G > A

\

\

ABL1

1

4

\

\

p.L217=

c.649 T > C

ALOX12B

1

12

p.A525T

c.1573G > A

\

\

AMER1

1

2

p.G149_A156del

c.446_469delGAGCCACAGAGAAAGCTGTGGCTG

\

\

ARID1A

1

1

\

\

p.A281=

c.843G > A

ASXL1

1

12

p.Q778*

c.2332C > T

\

\

AURKB

1

6

p.G161R

c.481G > A

\

\

AXL

1

2

p.R71Q

c.212G > A

\

\

BCORL1

1

3

p.P312S

c.934C > T

\

\

CCND1

1

NA

\

\

cn_amp

\

CD79A

1

2

\

\

p.T65=

c.195C > T

CDH1

1

9

p.D433N

c.1297G > A

\

\

CDK12

1

13

\

\

p.S1191=

c.3573A > G

DIS3

1

11

p.V509 L

c.1525G > C

\

\

DOT1L

1

24

p.G1087S

c.3259G > A

\

\

EP300

1

2

\

\

p.Y207=

c.621C > T

EPHA3

1

7

p.A515T

c.1543G > A

\

\

EPHA5

1

5

\

\

p.Y437=

c.1311 T > C

ERBB2

1

3

\

\

p.P122=

c.366G > A

ERBB4

1

27

p.A1130S

c.3388G > T

\

\

EZH2

1

2

p.R18C

c.52C > T

\

\

FGFR1

1

NA

\

\

cn_amp

NA

FGFR4

1

18

p.D785H

c.2353G > C

\

\

GRIN2A

1

3

p.V122I

c.364G > A

\

\

HRAS

1

4

\

\

p.D108=

c.324C > T

IKBKE

1

6

p.R134C

c.400C > T

\

\

IL7R

1

5

p.A199G

c.596C > G

\

\

INHBA

1

2

p.K45R

c.134A > G

\

\

KAT6A

1

15

\

\

p.E993del

c.2977_2979delGAG

KDM5A

1

23

\

\

p.G1200 fs

c.3597dupA

KDM6A

1

5

p.Y143C

c.428A > G

\

\

KMT2D

1

10

\

\

p.P556=

c.1668G > T

MAP2K1

1

10

p.Q354H

c.1062A > C

\

\

MET

1

NA

\

\

cn_amp

NA

MTOR

1

28

\

\

p.A1388=

c.4164C > T

NCOR1

1

4

\

\

p.L133=

c.399G > A

NF2

1

5

\

\

p.R160=

c.478C > A

NPM1

1

7

p.V192 M

c.574G > A

\

\

NSD1

1

5

\

\

p.K513=

c.1539G > A

NTRK1

1

8

p.N323S

c.968A > G

\

\

PAK3

1

1

p.S31G

c.91A > G

\

\

PARP2

1

8

p.E231K

c.691G > A

\

\

PARP4

1

31

\

\

p.R1332=

c.3996C > T

PAX5

1

6

\

\

p.L234=

c.700C > T

PIK3C2G

1

29

p.R1316G

c.3946A > G

\

\

PIK3CG

1

8

\

\

p.I879=

c.2637C > T

PMS2

1

9

p.R304T

c.911G > C

\

\

PRDM1

1

5

p.H409Q

c.1227C > A

\

\

RAD52

1

9

p.A248T

c.742G > A

\

\

RET

1

7

\

\

p.G453=

c.1359G > C

RPTOR

1

14

\

\

p.N513=

c.1539C > T

SMARCA4

1

35

p.R1633Q

c.4898G > A

\

\

SOX10

1

4

p.T240P

c.718A > C

\

\

TSC1

1

13

p.M425 V

c.1273A > G

\

\

TSHR

1

5

p.G132R

c.394G > C

\

\

  1. Abbreviations: chrom chromosome, cn_amp copy number gain amplification, del deletion
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Diagnostic Pathology

ISSN: 1746-1596

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