Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors.
Detection of recurrent somatic rearrangements routinely allows monitoring of residual disease burden in leukemias, but is not used for most solid tumors. However, next-generation sequencing now allows rapid identification of patient-specific rearrangements in solid tumors. We mapped genomic rearrangements in three cancers and showed that PCR assays for rearrangements could detect a single copy of the tumor genome in plasma without false positives. Disease status, drug responsiveness, and incipient relapse could be serially assessed. In future, this strategy could be readily established in diagnostic laboratories, with major impact on monitoring of disease status and personalizing treatment of solid tumors.
McBride
David J
DJ
Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Orpana
Arto K
AK
Sotiriou
Christos
C
Joensuu
Heikki
H
Stephens
Philip J
PJ
Mudie
Laura J
LJ
Hämäläinen
Eija
E
Stebbings
Lucy A
LA
Andersson
Leif C
LC
Flanagan
Adrienne M
AM
Durbecq
Virginie
V
Ignatiadis
Michail
M
Kallioniemi
Olli
O
Heckman
Caroline A
CA
Alitalo
Kari
K
Edgren
Henrik
H
Futreal
P Andrew
PA
Stratton
Michael R
MR
Campbell
Peter J
PJ
D000328:Adult; D001943:Breast Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008875:Middle Aged; D012516:Osteosarcoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology