Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer

Lohr JG, Adalsteinsson VA, Cibulskis K, Choudhury AD, Rosenberg M, Cruz-Gordillo P, Francis JM, Zhang CZ, Shalek AK, Satija R, et al. Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer. Nat Biotechnol. 2014;32:479–84.

NOTES

Lohr, Jens GAdalsteinsson, Viktor ACibulskis, KristianChoudhury, Atish DRosenberg, MaraCruz-Gordillo, PeterFrancis, Joshua MZhang, Cheng-ZhongShalek, Alex KSatija, RahulTrombetta, John JLu, DianaTallapragada, NarenTahirova, NarminKim, SoraBlumenstiel, BrendanSougnez, CarrieLowe, AlariceWong, BangAuclair, DanielVan Allen, Eliezer MNakabayashi, MariLis, Rosina TLee, Gwo-Shu MLi, TiantianChabot, Matthew SLy, AmyTaplin, Mary-EllenClancy, Thomas ELoda, MassimoRegev, AvivMeyerson, MatthewHahn, William CKantoff, Philip WGolub, Todd RGetz, GadBoehm, Jesse SLove, J ChristopherengF32 HD075541/HD/NICHD NIH HHS/P30-CA14051/CA/NCI NIH HHS/T32 CA009172/CA/NCI NIH HHS/P30 CA014051/CA/NCI NIH HHS/5P50CA100707-10/CA/NCI NIH HHS/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.Nat Biotechnol. 2014 May;32(5):479-84. doi: 10.1038/nbt.2892. Epub 2014 Apr 20.

Abstract

Comprehensive analyses of cancer genomes promise to inform prognoses and precise cancer treatments. A major barrier, however, is inaccessibility of metastatic tissue. A potential solution is to characterize circulating tumor cells (CTCs), but this requires overcoming the challenges of isolating rare cells and sequencing low-input material. Here we report an integrated process to isolate, qualify and sequence whole exomes of CTCs with high fidelity using a census-based sequencing strategy. Power calculations suggest that mapping of >99.995% of the standard exome is possible in CTCs. We validated our process in two patients with prostate cancer, including one for whom we sequenced CTCs, a lymph node metastasis and nine cores of the primary tumor. Fifty-one of 73 CTC mutations (70%) were present in matched tissue. Moreover, we identified 10 early trunk and 56 metastatic trunk mutations in the non-CTC tumor samples and found 90% and 73% of these mutations, respectively, in CTC exomes. This study establishes a foundation for CTC genomics in the clinic.
Last updated on 02/17/2021