Table 2 Summary of patients with Lynch syndrome who developed lung cancer

From: The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests

Case

Age

Sex

Other cancer(age)

Family history(age)

NGS test

MSI-test

MMR-IHC

MMR gene

Genes with somatic mutations

Genetic testing of relatives

Author year

1

58

M

Colorectum (54, 58)

Father- leukemia(70)

Brother- prostate(62)

―

―

dMMR

MSH2

  

,A. Canney, et al. [31]

2

64

M

Colorectum

(33, 53)

Bladder (51)

Sebaceous neoplasms of skin

(Muir-Torre syn.)

No

―

MSI-H

dMMR

MSH2

  

L. Nolan, et al. 2009

3

68

M

Colorectum

(43, 63, 64)

Lung(SCC)(63)

Prostate(67)

Mother- uterus

Brother- stomach

―

MSI-H

dMMR

MSH2

  

,Y. Kawashima, et al. [32]

4

74

F

No

No

P*

MSS

pMMR

PMS2

PTCH1

Yes

.S. Sun, et al. [33]

5

62

F

No

Mother- colon(40 s)

P

―

pMMR

MSH2

MAP2K2, GNAS

Yse

.S. Sun, et al. [33]

6

70-75

 

No

No

P

MSS

―

PMS2

GNAS,EGFR,MTOR,CUL3,CREBBP

No

.S. Sun, et al. [33]

7

55-60

 

No

Mother- colon

P

MSS

―

MSH6

MLL3,EGFR,TP53,RB1,NXF5,CBL

No

.S. Sun, et al. [33]

8

65-70

 

No

No

P

MSS

―

MSH6

IGF1R,TP53,ARID2,XRCC3,MET

No

.S. Sun, et al. [33]

9

75-80

 

No

Brother- stomach

P

MSS

―

MSH6

ALK,LRP1B,TP53,DNMT3A,HRAS,DDR2,NTM,TCF7L2,POLE

No

S. Sun, et al. [33].

10

50

M

Lung

Stomach

Father- lung

Sister- breast

P

―

―

MLH1

MSH2

EGFR, TERT

Yes

.X.Chen et al. [34]

11

36

M

No

Sister- colorectum

(32)

Father- colorectum

(46, 54)

Paternal uncle- clorectum (40)

Paternal grandmother-colorectum

(41)

―

MSI-H

dMMR

MLH1

  

K.Masuzawa,et al. 2020

12

66

F

Endometorium

No description

T**

MSS

pMMR

MSH2

EGFR, TP53

 

.Hissong et al. [35]

13

74

F

Ovary

Rectum

No

―

MSI-H

―

MSH6

  

.Maccaroni et al. [36]

14

76

M

No

Brother-stomach

Sister-colon

P

―

pMMR

MSH6

ALK, LRP1B, TP53

Yes

,Y. Long, et al. [37]

15

62

M

No

No

P

MSI-H

dMMR

PMS2

KRAS, TP53

Yes

Q Han et al. 2022

16

70

F

Colon(51)

Urothelium(63)

Lung(67)

Father-colon(46)

Uncle- colon(58)

Brother- pancreas(52)

Sister- colon(90),urothelium(70),HCC(80)

T

―

pMMR

MSH2

  

U.Majeed et al. 2023

17

62

F

Colon

Tongue

Paternal grandmmother- colon

Paternal aunt- colon

Son- colon(35)

T

MSS

―

MLH1

EGFR

Yes

.A. Hodges et al. [39]

18

(Our case)

65

M

No

Sister- endometrium(39)

Father- stomach

Mother- tongue

T

MSS

pMMR

PMS2

TP53, CDKN2A, ERBB2

No

Our case