Table 1 Alterations in oncogenes or tumor suppressor genes (TSGs) identified in the primary tumor (P1) and lung metastasis (M1) of Patient 1 or the primary tumor (P2) and recurrence (R2) of Patient 2. Variants of unknown significance (VUS) were assigned according to the FoundationOne® (CDx) report

APC

+

non-syn. SNV

p.R230H

+

P1, M1

0.98, pathogenic

Disease causing

NR

NR

ARID1A

+

non-fs deletion

p.A345_A349del

M1

–

Polymorphism^a

NR

One case, non-syn. SNV [18]

P

benign

non-fs insertion

p.A247_G248insA

+

P2, R2

–

Polymorphism

NR

BCOR

+

splicing, stop gain

p.R1031fs*23

P2

–

Disease causing

NR

Few cases [13, 38]

P borderline,

malignant

BRIP1

+

non-syn. SNV

p.M1V

P1, M1

0.02, benign

Polymorphism

NR

NR

CARD11

+

non-syn. SNV

p.S925C

+

P2, R2

NA

Polymorphism

NR

Few cases: amplification [14, 16]

P

malignant

CASP8

+

non-syn. SNV

p.F18L

+

P1

NA

Polymorphism

NR

NR

CDK4

+

non-syn. SNV

p.T102K

+

P1, M1

NA

Disease causing

NR

NR

EGFR

+

non-syn. SNV

p.Q432K

P2

0.71, pathogenic

Disease causing

NR

Several non-syn. SNVs [12, 13, 16, 18]

P

malignant

amplification

copy no. = 11

R2

–

–

Several cases

[9, 11,12,13,14, 18]

P, M

malignant

GRIN2A

+

+

non-syn. SNV

p.T141K

+

M1

NA

Polymorphism

NR

NR

IGF1R

+

amplification

copy no. = 6

P2

–

–

Two cases [11]

P

malignant

copy no. = 19

R2

–

–

KIT

+

amplification

copy no. = 21

P2

–

–

One case [13]

NR

P

malignant

copy no. = 27

R2

–

–

MED12

+

non-syn. SNV

p.G44V

P1, M1

0.95, pathogenic

Disease causing

Hotspot [9, 11, 13, 14, 18]

High frequency [9, 11, 13, 14, 16, 18]

P, R, M

all grades

KMT2D

(MLL2)

+

fs deletion, stop gain

p.E2603fs*88

P1, M1

–

Disease causing

NR

Several cases [9, 13, 16, 38]

P, M

all grades

stop gain

p.Q3293*

NA

Disease causing

NR

Stop gain [13, 14, 16, 18]

MYC

+

amplification

copy no. = 33

P2

–

–

Several cases [10, 11, 13, 18]

NR

P

malignant

copy no. = 44

R2

–

–

PAX5

+

+

non-syn. SNV

p.S213L

+

P2, R2

0.89, pathogenic

Disease causing

NR

One case [38]

P, benign

PDGFRA

+

amplification

copy no. = 24

P2

–

–

few cases [11, 13]

NR

R

malignant

amplification

copy no. = 35

R2

–

–

RB1

+

fs deletion, stop gain

I124fs*6

P2

–

Disease causing

NR

Several cases

[9,10,11,12,13,14, 16, 18]

P, M

borderline malignant

stop gain

p. Y321*

P2

NA

Disease causing

TERT

+

+

promoter

c.-124C > T

P1, M1

NA

NA

Hotspot

[9, 13,14,15, 18]

high frequency [9, 14,15,16, 18]

P, R

all grades

TP53

+

non-syn. SNV

p.R249S

P1, M1

NA

Disease causing

NR, c.747G > C

High frequency [9, 11,12,13,14, 16, 18]

P, R, M

mostly malignant

non-syn. SNV

G262V

P2, R2

1.00, pathogenic

Disease causing

NR

non-syn. mutation

p.Q_S6 > HP

R2

–

Polymorphism

NR

deletion

exons 2–9

P2, R2

–

–

NR

Deletion of gene [10]

P, distant malignant