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Table 2 Molecular alterations in 31 cases of PLC from TCGA

From: Targetable alterations in invasive pleomorphic lobular carcinoma of the breast

ID

ER IHC

PR IHC

HER2

Gene

Alteration

Gene

Alteration

Gene

Alteration

Gene

Alteration

Other alterations

TCGA-AR-A2LJ

70–79%

70–75%

pos

CDH1

E165Q

ERBB2

AMP

PIK3CA

H1047R

   

TCGA-A2-A0SY

80–89%

40–49%

pos fish

CDH1

S18fs

ERBB2

AMP

PIK3CA

E545K

   

TCGA-D8-A27G

> 75%

> 75%

2 ihc fish neg

CDH1

E167fs

ERBB2

AMP/ I767M

PIK3CA

H1047R

   

TCGA-A8-A0A7

neg

neg

pos

CDH1

E243K

ERBB2

AMP

PIK3CA

E726K

   

TCGA-A8-A0A6

pos

pos

neg

CDH1

T522_splice

ERBB2

L755S

PIK3CA

G118D

   

TCGA-A8-A0AB

?

?

?

CDH1

D400fs

ERBB2

L755S

PIK3CA

   

BRCA2 deep del

TCGA-C8-A274

?

?

?

CDH1

P625fs

ERBB2

I767M

PIK3CA

H1047R

   

TCGA-AC-A3YI

90–99%

20–29%

neg

CDH1

E763fs

ERBB2

L755S

PIK3CA

   

FGFR1 amp

TCGA-A2-A0T6

90–99%

90–99%

neg

CDH1

Y827fs

ERBB2

L755R (L755W, L755M) & R678Q

PIK3CA

    

TCGA-BH-A0C1

pos

pos

neg

CDH1

P159fs

ERBB2

V777L

PIK3CA

    

TCGA-C8-A3M7

neg

neg

neg

CDH1

T340fs

ERBB2

S305C

PIK3CA

H1047R

  

KMT2C Q3151*

TCGA-AO-A128

neg

neg

neg

CDH1

A817V

ERBB2

V797A

PIK3CA

   

TP53 R342*, KMT2C Q1787Lfs*18 & E495Dfs*42

TCGA-BH-A18P

pos

neg

pos

CDH1

S36fs

ERBB2

L755S

PIK3CA

   

MAP3K1 P233Qfs*30

TCGA-A8-A07B

pos

pos

pos fish

CDH1

P200fs

  

PIK3CA

H1047R

  

TP53 Q165Afs*8

TCGA-E2-A1IJ

?

?

?

CDH1

V678fs

  

PIK3CA

 

PTEN

homodel

 

TCGA-A2-A0EX

pos

pos

neg

CDH1

Q511*

  

PIK3CA

E545K

  

FGFR1 amp

TCGA-E2-A2P5

pos

pos

neg fish

CDH1

Q383*

  

PIK3CA

N345K, G914R

  

TP53 F341S KMT2C E648Vfs*8

TCGA-AR-A2LL

70–79%

70–79%

neg fish

CDH1

G278R

  

PIK3CA

 

PTEN

C124S

 

TCGA-E9-A3X8

20–29%

20–29%

< 10% pos (negative in report)

CDH1

515_516ins*

  

PIK3CA

    

TCGA-BH-A0E9

pos

pos

neg

CDH1

D756fs

  

PIK3CA

 

PTEN

X70_splice

 

TCGA-EW-A1J5

90–99%

90–99%

neg

CDH1

F499fs

  

PIK3CA

E545K, E726K

   

TCGA-BH-A2L8

70–79%

80–89%

neg

CDH1

R800fs

  

PIK3CA

G1049R

PTEN

S287*

 

TCGA-BH-A18F

pos

pos

neg

CDH1

L581fs

  

PIK3CA

Q546K, H1047R

   

TCGA-BH-A209

pos

pos

?

CDH1

R63*

  

PIK3CA

   

ZNF791-FGFR1

TCGA-A2-A3KC

90–99%

90–99%

neg fish

CDH1

T748fs

  

PIK3CA

H1047R

   

TCGA-AN-A03Y

pos

pos

neg

CDH1

R63*

  

PIK3CA

H1047R

   

TCGA-A8-A09W

?

?

?

CDH1

T646_splice

  

PIK3CA

   

RB1 Y606*

TCGA-EW-A3E8

?

?

?

CDH1

I722_splice

  

PIK3CA

E545K

   

TCGA-AO-A12G

90–99%

30–39%

neg fish

CDH1

16q22.1 homodel

  

PIK3CA

 

PTEN

R47fs

TP53 K139_P142del

TCGA-E2-A1LG

?

?

?

CDH1

16q22.1 homodel

  

PIK3CA

   

TP53 I255del KMT2c W1002* FGFR1 amp PIK3R2 amp

TCGA-A2-A25D

?

?

?

CDH1

16q22.1 homodel

  

PIK3CA

E110del

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