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Table 2 The genetic changes of the 3 patients

From: Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix

sample

genename

Achange

Exonicfuction

case1

FCGR3A

missense

p.L66R

 

case1

STK36

missense

p.R1112Q

 

case1

TNK2

missense

p.R877H

 

case1

DAXX

missense

p.A486G

 

case1

EZR

missense

p.N6S

 

case1

HIF1A

missense

p.A588T

 

case1

SEPT9

missense

p.P127L

 

case1

SLC45A3

nonframeshift deletion

p.222_234del

case1

MAGI1

nonframeshift insertion

p.T422delinsQT

case1

EP400

nonframeshift deletion

p.2728_2728del

case2

PDE4DIP

missense

p.A272T

 

case2

PAX8

missense

p.P263L

 

case2

MLH1

missense

p.R217C

 

case2

SDHA

missense

p.A5333V

 

case2

MET

missense

p.N375S

 

case2

TET1

missense

p.S487 L

 

case2

BRCA2

missense

p.I3412V

 

case2

ASXL1

missense

p.G652S

 

case2

MAGI1

nonframeshift insertion

p.T422delinsQT

case3

PMS1

missense

p.R883H

 

case3

UGT1A3

missense

p.R45W

 

case3

UGT1A5,UGT1A8,UGT1A10,UGT1A6,UGT1A7,UGT1A3,UGT1A1,UGT1A9,UGT1A4

missense

p.P364L

 

case3

XPC

missense

p.L48F

 

case3

ITK

missense

p.L582 M

 

case3

NOTCH4

missense

p.G534S

 

case3

IGF2R

missense

p.N2348S

 

case3

AKAP9

missense

p.R3712Q

 

case3

EPHB4

missense

p.A371V

 

case3

RET

missense

p.T278 N

 

case3

KAT6B

missense

p.V1499I

 

case3

NUMA1

missense

p.L344 V

 

case3

ADAMTS20

missense

p.S1273F

 

case3

ADAMTS20

missense

p.R1000H

 

case3

YES1

missense

p.I198V

 

case3

BCR

missense

p.D1106N

case3

SLC45A3

nonframeshift deletion

p.222_234del

case3

BCR

frameshift insertion

p.S1092 fs