Table 2.
Molecular results for PIK3CA in nine patients with GLA
PatientAge (y)SexSampleMethodVariantAlt.var.freq% (wt;alt)
GLA002 17 F GLA002-Bone1 (iliac crest) HB − 0 (186;0) 
GLA002-Bone2 (sacrum) AB −a 0.01 (38,548;5) 
GLA002-Fascia tissue AB −a 0.02 (34,032;6) 
GLA002-LM (FFPE) AB c.3140A>G; p.His1047Arg 23.0 (22,652;6,761) 
GLA006 23 M GLA006-LM_1 HB − 0 (277;0) 
GLA006-LM_2 (FFPE) AB c.3140A>T; p.His1047Leu 18.48 (12,007;2,722) 
GLA011 20 M GLA011-LM AB − − 
GLA022 6 F GLA022-LM (FFPE) AB − − 
GLA038 15 F GLA038-LM AB − − 
GLA051 35 F GLA051-LM HB c.1624G>A; p.Glu542Lys 3.5 (320;11) 
GLA051-LM AB c.1624G>A; p.Glu542Lys 1.1 (35,018;385) 
GLA053 4 M GLA053-LM AB − − 
GLA054 38 F GLA054-LM HB c.1636C>A; p.Gln546Lys 3.1 (624;20) 
GLA054-LM AB c.1636C>A; p.Gln546Lys 3.4 (51,752;1,780) 
GLA054-LM-LECs HB c.1636C>A; p.Gln546Lys 27.9 (277;107) 
GLA061 16 M GLA061-LM AB c.1624G>A; p.Glu542Lys 1.68 (73,577;1,234) 
GLA061-LM-LECs AB c.1624G>A; p.Glu542Lys 33.67 (36,999;12,459) 

AB, amplicon-based high-throughput sequencing; Alt.var.freq%, frequency of the alternative variant; F, female; HB, hybridization-based; M, male; wt;alt, number of reads for wild-type and alternative alleles.

a

Next-generation sequencing reads in the background noise range of the technique and cannot be considered as positive.

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