Table 2 Results of targeted sequencing analysis in the three patients with adrenocortical carcinoma and a previous history of melanoma

Case 1

33 genes^a

Somatic:

CTNNB1: NM_001904.3: c.133C > T

p. Ser45Pro

likely oncogenic

Germline: -

–

Case 2

33 genes^a

Somatic:

APC: NM_000038.5, c. 14C > T

p.Ser5Leu

likely oncogenic

KMT2D: NM_003482.3, c.12935C > T

p.Ser4312Phe

likely oncogenic

Germline:

MLH1: NM_000249.3: c.977 T > C

p.Val326Ala

uncertain

ATM: NM_000051.3: c.2119 T > C

p.Ser707Pro

likely benign

Case 3

160 genes^b

Somatic:

APC: NM_001127511, c.G4558T

p.E1520X

likely oncogenic

TP53: NM_000546.5, c.365_366del

p.Val122Aspfs^a26

likely oncogenic

Germline:

AKT2: NM_001626.5:c.177A > G

p.Glu59=

ATM: NM_000051.3:c.7316 T > C

p.Val2439Ala

likely benign

CBLB: NM_170662.4:c.2581G > T

p.Asp861Tyr

uncertain

CBLB: NM_170662.4:c.1865G > C

p.Ser622Thr

uncertain

FANCD2 NM_001018115.2:c.78A > C

p.Gln26His

likely benign

FANCD2:

p.Pro714Leu

likely benign

NM_001018115.2:c.2141C > T

p.Asp1327Gly

benign

NOTCH2: NM_024408.3:c.3980A > G

p.Lys541Glu

benign

PMS2: NM_000535.6:c.1621A > G

benign