Analytical Validation of Androgen Receptor Splice Variant 7 Detection in a Clinical Laboratory Improvement Amendments (CLIA) Laboratory Setting

Journal of Molecular Diagnostics

Volumn 19, Issue 1, 2017, Pages 115-125

  Lokhandwala, Parvez M ^a   Riel, Stacy L ^a   Haley, Lisa ^a   Lu, Changxue ^a   Chen, Yan ^a   Silberstein, John ^a   Zhu, Yezi ^a   Zheng, Gang ^a   Lin, Ming Tseh ^a   Gocke, Christopher D ^a   Partin, Alan W ^a   Antonarakis, Emmanuel S ^a   Luo, Jun ^a   Eshleman, James R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; BETA ACTIN; COMPLEMENTARY DNA; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; MESSENGER RNA; PROSTATE SPECIFIC ANTIGEN; PROSTATE SPECIFIC MEMBRANE ANTIGEN; AR PROTEIN, HUMAN; ISOPROTEIN; TUMOR MARKER;

ANALYTIC METHOD; ANDROGEN RECEPTOR SPLICE VARIANT 7 ASSAY; ARTICLE; ASSAY; BLOOD SAMPLING; CANCER DIAGNOSIS; CASTRATION RESISTANT PROSTATE CANCER; CELL ISOLATION; CIRCULATING TUMOR CELL; CLINICAL LABORATORY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; HUMAN; HUMAN CELL; LAW; LIMIT OF DETECTION; LNCAP CELL LINE; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; QUANTITATIVE ASSAY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; ADULT; AGED; CASE CONTROL STUDY; FEMALE; GENE EXPRESSION; GENETICS; METABOLISM; MIDDLE AGED; MOLECULAR DIAGNOSIS; PROSTATIC NEOPLASMS, CASTRATION-RESISTANT; TOTAL QUALITY MANAGEMENT; TUMOR CELL LINE; VALIDATION STUDY; YOUNG ADULT;

ADULT; AGED; BIOMARKERS, TUMOR; CASE-CONTROL STUDIES; CELL LINE, TUMOR; FEMALE; GENE EXPRESSION; HUMANS; LIMIT OF DETECTION; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; PROSTATIC NEOPLASMS, CASTRATION-RESISTANT; PROTEIN ISOFORMS; QUALITY IMPROVEMENT; RECEPTORS, ANDROGEN; YOUNG ADULT;

EID: 85006456753     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2016.08.003     Document Type: Article

References (41)

1. 1 de Bono, J.S., Logothetis, C.J., Molina, A., Fizazi, K., North, S., Chu, L., Chi, K.N., Jones, R.J., Goodman, O.B. Jr., Saad, F., Staffurth, J.N., Mainwaring, P., Harland, S., Flaig, T.W., Hutson, T.E., Cheng, T., Patterson, H., Hainsworth, J.D., Ryan, C.J., Sternberg, C.N., Ellard, S.L., Flechon, A., Saleh, M., Scholz, M., Efstathiou, E., Zivi, A., Bianchini, D., Loriot, Y., Chieffo, N., Kheoh, T., Haqq, C.M., Scher, H.I., COU-AA-301 Investigators. Abiraterone and increased survival in metastatic prostate cancer. N Engl J Med 364 (2011), 1995–2005.
2. 2 Ryan, C.J., Smith, M.R., de Bono, J.S., Molina, A., Logothetis, C.J., de Souza, P., Fizazi, K., Mainwaring, P., Piulats, J.M., Ng, S., Carles, J., Mulders, P.F., Basch, E., Small, E.J., Saad, F., Schrijvers, D., Van Poppel, H., Mukherjee, S.D., Suttmann, H., Gerritsen, W.R., Flaig, T.W., George, D.J., Yu, E.Y., Efstathiou, E., Pantuck, A., Winquist, E., Higano, C.S., Taplin, M.E., Park, Y., Kheoh, T., Griffin, T., Scher, H.I., Rathkopf, D.E., COU-AA-302 Investigators. Abiraterone in metastatic prostate cancer without previous chemotherapy. N Engl J Med 368 (2013), 138–148.
3. 3 Beer, T.M., Armstrong, A.J., Rathkopf, D.E., Loriot, Y., Sternberg, C.N., Higano, C.S., Iversen, P., Bhattacharya, S., Carles, J., Chowdhury, S., Davis, I.D., de Bono, J.S., Evans, C.P., Fizazi, K., Joshua, A.M., Kim, C.S., Kimura, G., Mainwaring, P., Mansbach, H., Miller, K., Noonberg, S.B., Perabo, F., Phung, D., Saad, F., Scher, H.I., Taplin, M.E., Venner, P.M., Tombal, B., PREVAIL Investigators. Enzalutamide in metastatic prostate cancer before chemotherapy. N Engl J Med 371 (2014), 424–433.
4. 4 Scher, H.I., Fizazi, K., Saad, F., Taplin, M.E., Sternberg, C.N., Miller, K., de Wit, R., Mulders, P., Chi, K.N., Shore, N.D., Armstrong, A.J., Flaig, T.W., Flechon, A., Mainwaring, P., Fleming, M., Hainsworth, J.D., Hirmand, M., Selby, B., Seely, L., de Bono, J.S., AFFIRM Investigators A. Increased survival with enzalutamide in prostate cancer after chemotherapy. N Engl J Med 367 (2012), 1187–1197.
5. 5 Karantanos, T., Evans, C.P., Tombal, B., Thompson, T.C., Montironi, R., Isaacs, W.B., Understanding the mechanisms of androgen deprivation resistance in prostate cancer at the molecular level. Eur Urol 67 (2015), 470–479.
6. 6 Dehm, S.M., Schmidt, L.J., Heemers, H.V., Vessella, R.L., Tindall, D.J., Splicing of a novel androgen receptor exon generates a constitutively active androgen receptor that mediates prostate cancer therapy resistance. Cancer Res 68 (2008), 5469–5477.
7. 7 Nakazawa, M., Antonarakis, E.S., Luo, J., Androgen receptor splice variants in the era of enzalutamide and abiraterone. Horm Cancer 5 (2014), 265–273.
8. 8 Lu, C., Luo, J., Decoding the androgen receptor splice variants. Transl Androl Urol 2 (2013), 178–186.
9. 9 Hu, R., Lu, C., Mostaghel, E.A., Yegnasubramanian, S., Gurel, M., Tannahill, C., Edwards, J., Isaacs, W.B., Nelson, P.S., Bluemn, E., Plymate, S.R., Luo, J., Distinct transcriptional programs mediated by the ligand-dependent full-length androgen receptor and its splice variants in castration-resistant prostate cancer. Cancer Res 72 (2012), 3457–3462.
10. 10 Guo, Z., Yang, X., Sun, F., Jiang, R., Linn, D.E., Chen, H., Chen, H., Kong, X., Melamed, J., Tepper, C.G., Kung, H.J., Brodie, A.M., Edwards, J., Qiu, Y., A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth. Cancer Res 69 (2009), 2305–2313.
11. 11 Hu, R., Dunn, T.A., Wei, S., Isharwal, S., Veltri, R.W., Humphreys, E., Han, M., Partin, A.W., Vessella, R.L., Isaacs, W.B., Bova, G.S., Luo, J., Ligand-independent androgen receptor variants derived from splicing of cryptic exons signify hormone-refractory prostate cancer. Cancer Res 69 (2009), 16–22.
12. 12 Hornberg, E., Ylitalo, E.B., Crnalic, S., Antti, H., Stattin, P., Widmark, A., Bergh, A., Wikstrom, P., Expression of androgen receptor splice variants in prostate cancer bone metastases is associated with castration-resistance and short survival. PLoS One, 6, 2011, e19059.
13. 13 Chan, S.C., Li, Y., Dehm, S.M., Androgen receptor splice variants activate androgen receptor target genes and support aberrant prostate cancer cell growth independent of canonical androgen receptor nuclear localization signal. J Biol Chem 287 (2012), 19736–19749.
14. 14 Qu, Y., Dai, B., Ye, D., Kong, Y., Chang, K., Jia, Z., Yang, X., Zhang, H., Zhu, Y., Shi, G., Constitutively active AR-V7 plays an essential role in the development and progression of castration-resistant prostate cancer. Sci Rep, 5, 2015, 7654.
15. 15 Antonarakis, E.S., Lu, C., Wang, H., Luber, B., Nakazawa, M., Roeser, J.C., Chen, Y., Mohammad, T.A., Chen, Y., Fedor, H.L., Lotan, T.L., Zheng, Q., De Marzo, A.M., Isaacs, J.T., Isaacs, W.B., Nadal, R., Paller, C.J., Denmeade, S.R., Carducci, M.A., Eisenberger, M.A., Luo, J., AR-V7 and resistance to enzalutamide and abiraterone in prostate cancer. N Engl J Med 371 (2014), 1028–1038.
16. 16 Steinestel, J., Luedeke, M., Arndt, A., Schnoeller, T.J., Lennerz, J.K., Wurm, C., Maier, C., Cronauer, M.V., Steinestel, K., Schrader, A.J., Detecting predictive androgen receptor modifications in circulating prostate cancer cells. Oncotarget, 2015 [Epub ahead of print] doi: 10.18632/oncotarget.3925.
17. 17 Efstathiou, E., Titus, M., Wen, S., Hoang, A., Karlou, M., Ashe, R., Tu, S.M., Aparicio, A., Troncoso, P., Mohler, J., Logothetis, C.J., Molecular characterization of enzalutamide-treated bone metastatic castration-resistant prostate cancer. Eur Urol 67 (2015), 53–60.
18. 18 Scher, H.I., Lu, D., Schreiber, N.A., Louw, J., Graf, R.P., Vargas, H.A., Johnson, A., Jendrisak, A., Bambury, R., Danila, D., McLaughlin, B., Wahl, J., Greene, S.B., Heller, G., Marrinucci, D., Fleisher, M., Dittamore, R., Association of AR-V7 on circulating tumor cells as a treatment-specific biomarker with outcomes and survival in castration-resistant prostate cancer. JAMA Oncol 2 (2016), 1441–1449.
19. 19 Antonarakis, E.S., Lu, C., Luber, B., Wang, H., Chen, Y., Nakazawa, M., Nadal, R., Paller, C.J., Denmeade, S.R., Carducci, M.A., Eisenberger, M.A., Luo, J., Androgen receptor splice variant 7 and efficacy of taxane chemotherapy in patients with metastatic castration-resistant prostate cancer. JAMA Oncol 1 (2015), 582–591.
20. 20 Nakazawa, M., Lu, C., Chen, Y., Paller, C.J., Carducci, M.A., Eisenberger, M.A., Luo, J., Antonarakis, E.S., Serial blood-based analysis of AR-V7 in men with advanced prostate cancer. Ann Oncol 26 (2015), 1859–1865.
21. 21 Onstenk, W., Sieuwerts, A.M., Kraan, J., Van, M., Nieuweboer, A.J., Mathijssen, R.H., Hamberg, P., Meulenbeld, H.J., De Laere, B., Dirix, L.Y., van Soest, R.J., Lolkema, M.P., Martens, J.W., van Weerden, W.M., Jenster, G.W., Foekens, J.A., de Wit, R., Sleijfer, S., Efficacy of cabazitaxel in castration-resistant prostate cancer is independent of the presence of AR-V7 in circulating tumor cells. Eur Urol 68 (2015), 939–945.
22. 22 Maughan, B.L., Antonarakis, E.S., Androgen pathway resistance in prostate cancer and therapeutic implications. Expert Opin Pharmacother 16 (2015), 1521–1537.
23. 23 Sprenger, C., Uo, T., Plymate, S., Androgen receptor splice variant V7 (AR-V7) in circulating tumor cells: a coming of age for AR splice variants?. Ann Oncol 26 (2015), 1805–1807.
24. 24 Maughan, B.L., Antonarakis, E.S., Clinical relevance of androgen receptor splice variants in castration-resistant prostate cancer. Curr Treat Options Oncol, 16, 2015, 57.
25. 25 Bitting, R.L., Healy, P., Halabi, S., George, D.J., Goodin, M., Armstrong, A.J., Clinical phenotypes associated with circulating tumor cell enumeration in metastatic castration-resistant prostate cancer. Urol Oncol 33 (2015), 110e1–110e9.
26. 26 Liang, S.L., Lin, M.T., Hafez, M.J., Gocke, C.D., Murphy, K.M., Sokoll, L.J., Eshleman, J.R., Application of traditional clinical pathology quality control techniques to molecular pathology. J Mol Diagn 10 (2008), 142–146.
27. 27 Larman, H.B., Scott, E.R., Wogan, M., Oliveira, G., Torkamani, A., Schultz, P.G., Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay. Nucleic Acids Res 42 (2014), 9146–9157.
28. 28 Thadani-Mulero, M., Portella, L., Sun, S., Sung, M., Matov, A., Vessella, R.L., Corey, E., Nanus, D.M., Plymate, S.R., Giannakakou, P., Androgen receptor splice variants determine taxane sensitivity in prostate cancer. Cancer Res 74 (2014), 2270–2282.
29. 29 Shan, X., Danet-Desnoyers, G., Fung, J.J., Kosaka, A.H., Tan, F., Perfito, N., Lomax, J., Iorns, E., Registered report: androgen receptor splice variants determine taxane sensitivity in prostate cancer. PeerJ, 3, 2015, e1232.
30. 30 Zhang, G., Liu, X., Li, J., Ledet, E., Alvarez, X., Qi, Y., Fu, X., Sartor, O., Dong, Y., Zhang, H., Androgen receptor splice variants circumvent AR blockade by microtubule-targeting agents. Oncotarget 6 (2015), 23358–23371.
31. 31 Kwegyir-Afful, A.K., Senthilmurugan, R., Purushottamachar, P., Ramamurthy, V.P., Njar, V.C., Galeterone and VNPT55 induce proteasomal degradation of AR/AR-V7, induce significant apoptosis via cytochrome c release and suppress growth of castration resistant prostate cancer xenografts in vivo. Oncotarget 6 (2015), 27440–27460.
32. 32 Vasaitis, T., Belosay, A., Schayowitz, A., Khandelwal, A., Chopra, P., Gediya, L.K., Guo, Z., Fang, H.B., Njar, V.C., Brodie, A.M., Androgen receptor inactivation contributes to antitumor efficacy of 17{alpha}-hydroxylase/17,20-lyase inhibitor 3beta-hydroxy-17-(1H-benzimidazole-1-yl)androsta-5,16-diene in prostate cancer. Mol Cancer Ther 7 (2008), 2348–2357.
33. 33 Purushottamachar, P., Godbole, A.M., Gediya, L.K., Martin, M.S., Vasaitis, T.S., Kwegyir-Afful, A.K., Ramalingam, S., Ates-Alagoz, Z., Njar, V.C., Systematic structure modifications of multitarget prostate cancer drug candidate galeterone to produce novel androgen receptor down-regulating agents as an approach to treatment of advanced prostate cancer. J Med Chem 56 (2013), 4880–4898.
34. 34 Andersen, R.J., Mawji, N.R., Wang, J., Wang, G., Haile, S., Myung, J.K., Watt, K., Tam, T., Yang, Y.C., Banuelos, C.A., Williams, D.E., McEwan, I.J., Wang, Y., Sadar, M.D., Regression of castrate-recurrent prostate cancer by a small-molecule inhibitor of the amino-terminus domain of the androgen receptor. Cancer Cell 17 (2010), 535–546.
35. 35 Myung, J.K., Banuelos, C.A., Fernandez, J.G., Mawji, N.R., Wang, J., Tien, A.H., Yang, Y.C., Tavakoli, I., Haile, S., Watt, K., McEwan, I.J., Plymate, S., Andersen, R.J., Sadar, M.D., An androgen receptor N-terminal domain antagonist for treating prostate cancer. J Clin Invest 123 (2013), 2948–2960.
36. 36 Martin, S.K., Banuelos, C.A., Sadar, M.D., Kyprianou, N., N-terminal targeting of androgen receptor variant enhances response of castration resistant prostate cancer to taxane chemotherapy. Mol Oncol 9 (2015), 628–639.
37. 37 Asangani, I.A., Dommeti, V.L., Wang, X., Malik, R., Cieslik, M., Yang, R., Escara-Wilke, J., Wilder-Romans, K., Dhanireddy, S., Engelke, C., Iyer, M.K., Jing, X., Wu, Y.M., Cao, X., Qin, Z.S., Wang, S., Feng, F.Y., Chinnaiyan, A.M., Therapeutic targeting of BET bromodomain proteins in castration-resistant prostate cancer. Nature 510 (2014), 278–282.
38. 38 Wyce, A., Degenhardt, Y., Bai, Y., Le, B., Korenchuk, S., Crouthame, M.C., McHugh, C.F., Vessella, R., Creasy, C.L., Tummino, P.J., Barbash, O., Inhibition of BET bromodomain proteins as a therapeutic approach in prostate cancer. Oncotarget 4 (2013), 2419–2429.
39. 39 Liu, C., Lou, W., Zhu, Y., Nadiminty, N., Schwartz, C.T., Evans, C.P., Gao, A.C., Niclosamide inhibits androgen receptor variants expression and overcomes enzalutamide resistance in castration-resistant prostate cancer. Clin Cancer Res 20 (2014), 3198–3210.
40. 40 Lu, W., Lin, C., Roberts, M.J., Waud, W.R., Piazza, G.A., Li, Y., Niclosamide suppresses cancer cell growth by inducing Wnt co-receptor LRP6 degradation and inhibiting the Wnt/beta-catenin pathway. PLoS One, 6, 2011, e29290.
41. 41 Watson, P.A., Arora, V.K., Sawyers, C.L., Emerging mechanisms of resistance to androgen receptor inhibitors in prostate cancer. Nat Rev Cancer 15 (2015), 701–711.