Clinical Study

Detection of PIK3CA Mutations in Breast Cancer Bone Metastases

Table 1

PIK3CA mutations in bone metastasis samples.

CaseBone marrow
aspirate
𝑃 𝐼 𝐾 3 𝐢 𝐴
status
Bone marrow
trephine biopsy
𝑃 𝐼 𝐾 3 𝐢 𝐴
status
CT-guided bone
metastasis biopsy
𝑃 𝐼 𝐾 3 𝐢 𝐴
status
Primary
tumour
𝑃 𝐼 𝐾 3 𝐢 𝐴
status

1neg. ndneg. ndneg.ndnond
2pos.E545Kpos.E545Kpos.E545KyesE545K
3neg. ndpos. WTpos.WTyesWT
4neg. ndpos.H1047RndndyesH1047R
5nd ndneg. ndneg.ndnond
6neg. ndneg. ndndndnond
7neg. ndneg. ndneg.ndnond
8neg. ndneg. ndneg.ndnond
9neg. ndneg. ndneg.ndnond
10neg. ndneg. ndndndnond
11neg. ndpos. WTndndno nd
12neg. ndndndpos.H1047R hom.nond
13pos. WTpos WTpos.neg.yesWT
14neg. ndneg. ndndndnond

For aspirate, trephine biopsy and CT-guided biopsy, negative (neg.) or positive (pos.), indicate whether or not tumour cells were present in the biopsy. β€œnd” indicates when a biopsy procedure or an assay was not performed. WT indicates wild-type 𝑃 𝐼 𝐾 3 𝐢 𝐴 sequence at hotspot mutation sites; H1047R and E545K indicate mutations. H1047R hom. indicates that this mutation appeared to be homozygous in this patient (all other mutations were heterozygous).