Table 2 Types of GNAS1 mutations detected by COLD-PCR in classical and cellular variants of intramuscular myxomas and a variety of control material

From: GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma

 

Number of cases

Number of R201H mutations

Number of R201C mutations

Total number of mutations

Intramuscular myxomas not associated with FD

26

8

7

15

 

11 cellular

2

2

4

 

15 classical

6

5

11

Intramuscular myxomas associated with fibrous dysplasia (Mazabraud's syndrome)

2

1

1

2

Paired non-lesional tissue

11

0

0

0

LGMFS

9

0

0

0

HGMFS

19

0

0

0

OFD

10

0

0

0

Controls

30

0 (3 failed)

0 (3 failed)

0

  1. LGMFS, low-grade myxofibrosarcoma; HGMFS, high-grade myxofibrosarcoma; OFD, osteofibrous dysplasia. Paired non-lesional tissue, skeletal muscle sampled from resection specimens of intramuscular myxoma.
  2. The ‘Controls’ represented DNA of low quality and yield; the numbers documented as ‘failed’ represent the number of DNA samples from which a PCR product was not generated.
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