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.