Table 2 Description of 12 individuals with a RASopathy who developed cancer

From: Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Patient (syndrome)

Sex

Age (years) at genetic testing

Amino-acid change (number of cases with this specific mutation in entire cohort)

Neoplasm (age in years)

Mutation previously associated with cancer

PTPN11

1 (NS)

F

0.2

A72G (8)

JMML (0.1)

(Strullu et al, 2014)

2 (NS)

M

0.4

G503R (15)

JMML (0.2)

(Strullu et al, 2014)

3 (NS)

M

0.4

E139D (20)

JMML (0.3)

(Strullu et al, 2014)

4 (NSML)

F

4

Y279C (17)

ALL (8)

(Ucar et al, 2006)

5 (NS)

M

0.8

M504V (25)

ALL (4)

(Karow et al, 2007)

6 (NS)

F

13

G60A (9)

Pilocytic astrocytoma (7)

(Strullu et al, 2014)

7 (NS)

F

−

N308D (107)

Dysembryoplastic neuroendothelial tumour (6)

(Strullu et al, 2014)

8 (NS)

F

3

I282M (1)

NBL (3)

Cosmic database

HRAS

9 (CS)

M

1

G12S (24)

ERMS (1)

(Kerr et al, 2006)

10 (CS)

F

0.5

G12C (2)

ERMS (3)

(Kerr et al, 2006)

KRAS

11 (KRAS)

M

2

D153V (4)

Astrocytoma (2)

−

12 (KRAS)

F

1

T58I (1)

JMML (0.5)

(Schubbert et al, 2006)

  1. Abbreviations: ALL=acute lymphoblastic leukaemia; CS=Costello syndrome; ERMS=embryonal rhabdomyosarcoma; F=female; JMML=juvenile myelomonocytic leukaemia; KRAS=RASopathy with a germline mutation of KRAS; NBL=neuroblastoma; M=male; NS=Noonan Syndrome; NSML=NS with multiple lentigines.
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