HOXB13 G84E-related familial prostate cancers: A clinical, histologic, and molecular survey

American Journal of Surgical Pathology

Volumn 38, Issue 5, 2014, Pages 615-626

  Smith, Steven C ^a   Palanisamy, Nallasivam ^a,c   Zuhlke, Kimberly A ^b   Johnson, Anna M ^b   Siddiqui, Javed ^a,c   Chinnaiyan, Arul M ^a,b,c,d   Kunju, Lakshmi P ^a,c   Cooney, Kathleen A ^a,b   Tomlins, Scott A ^a,b,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b Dept of Internal Medicine 1524 Basic Sciences Research Building ^*  (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; ERG PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; HOXB13 PROTEIN, HUMAN; SPINK1 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN;

ADENOCARCINOMA; ARTICLE; BIOSYNTHESIS; CANCER GRADING; CANCER STAGING; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; PROSTATE TUMOR;

ADENOCARCINOMA; CARRIER PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; NEOPLASM GRADING; NEOPLASM STAGING; PROSTATIC NEOPLASMS; TRANS-ACTIVATORS;

EID: 84899083832     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000090     Document Type: Article

References (62)

1. Pomerantz M, Freedman ML. Clinical uncertainty of prostatecancer genetic risk panels. Sci Transl Med. 2013;5:182-186.
2. Goh CL, Schumacher FR, Easton D, et al. Genetic variantsassociated with predisposition to prostate cancer and potentialclinical implications. J Intern Med. 2012;271:353-365.
3. Akamatsu S, Takata R, Haiman CA, et al. Common variants at11q12, 10q26 and 3p11.2 are associated with prostate cancersusceptibility in Japanese. Nat Genet. 2012;44:426-429, S421.
4. Eeles RA, Olama AA, Benlloch S, et al. Identification of 23 newprostate cancer susceptibility loci using the iCOGS customgenotyping array. Nat Genet. 2013;45:385-391.
5. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Genome-wideassociation and replication studies identify four variants associatedwith prostate cancer susceptibility. Nat Genet. 2009;41:1122-1126.
6. Collins CC, Volik SV, Lapuk A, et al. Next generation sequencing ofprostate cancer from a patient identifies a deficiency of methylthioadeninephosphorylase (MTAP), an exploitable tumor target.Mol Cancer Ther. 2012;11:775-783.
7. Ewing CM, Ray AM, Lange EM, et al. Germline mutations inHOXB13 and prostate-cancer risk. N Engl J Med. 2012;366:141-149.
8. Akbari MR, Trachtenberg J, Lee J, et al. Association betweengermline HOXB13 G84E mutation and risk of prostate cancer.J Natl Cancer Inst. 2012;104:1260-1262.
9. Breyer JP, Avritt TG, McReynolds KM, et al. Confirmation of theHOXB13 G84E germline mutation in familial prostate cancer.Cancer Epidemiol Biomarkers Prev. 2012;21:1348-1353.
10. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. A study basedon whole-genome sequencing yields a rare variant at 8q24 associatedwith prostate cancer. Nat Genet. 2012;44:1326-1329.
11. Karlsson R, Aly M, Clements M, et al. A population-basedassessment of germline HOXB13 G84E mutation and prostatecancer risk. Eur Urol. 2014;65:169-176.
12. Stott-Miller M, Karyadi DM, Smith T, et al. HOXB13 mutations ina population-based, case-control study of prostate cancer. Prostate.2013;73:634- 641.
13. Chen Z, Greenwood C, Isaacs WB, et al. The G84E mutationof HOXB13 is associated with increased risk for prostatecancer: results from the REDUCE trial. Carcinogenesis. 2013;34:1260-1264.
14. Kluzniak W, Wokolorczyk D, Kashyap A, et al. The G84Emutation in the HOXB13 gene is associated with an increased riskof prostate cancer in Poland. Prostate. 2013;73:542-548.
15. Laitinen VH, Wahlfors T, Saaristo L, et al. HOXB13 G84Emutation in Finland: population-based analysis of prostate, breast,and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev.2013;22:452-460.
16. Macinnis RJ, Severi G, Baglietto L, et al. Population-based estimateof prostate cancer risk for carriers of the HOXB13 missensemutation G84E. PLoS One. 2013;8:e54727.
17. Schroeck FR, Zuhlke KA, Siddiqui J, et al. Testing for the recurrentHOXB13 G84E germline mutation in men with clinical indicationsfor prostate biopsy. J Urol. 2013;189:849-853.
18. Xu J, Lange EM, Lu L, et al. HOXB13 is a susceptibility gene forprostate cancer: results from the International Consortiumfor Prostate Cancer Genetics (ICPCG). Hum Genet. 2013;132:5-14.
19. Witte JS, Mefford J, Plummer S, et al. HOXB13 mutation andprostate cancer: studies of siblings and agressive disease. CancerEpidemiol Biomarkers Prev. 2013;22:675-680.
20. Economides KD, Capecchi MR. Hoxb13 is required for normaldifferentiation and secretory function of the ventral prostate.Development. 2003;130:2061-2069. (Pubitemid 36656703)
21. Huang L, Pu Y, Hepps D, et al. Posterior Hox gene expression anddifferential androgen regulation in the developing and adult ratprostate lobes. Endocrinology. 2007;148:1235-1245.
22. Jung C, Kim RS, Lee SJ, et al. HOXB13 homeodomain proteinsuppresses the growth of prostate cancer cells by the negativeregulation of T-cell factor 4. Cancer Res. 2004;64:3046-3051. (Pubitemid 38581403)
23. Jung C, Kim RS, Zhang HJ, et al. HOXB13 induces growthsuppression of prostate cancer cells as a repressor of hormoneactivatedandrogen receptor signaling. Cancer Res. 2004;64:9185-9192. (Pubitemid 39665535)
24. Norris JD, Chang CY, Wittmann BM, et al. The homeodomainprotein HOXB13 regulates the cellular response to androgens. MolCell. 2009;36:405-416.
25. Sreenath T, Orosz A, Fujita K, et al. Androgen-independent expressionof hoxb-13 in the mouse prostate. Prostate. 1999;41:203-207. (Pubitemid 29508615)
26. Epstein JI, Netto GJ. Biopsy Interpretation of the Prostate.Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins;2008.
27. Humphrey PA. Histological variants of prostatic carcinoma andtheir significance. Histopathology. 2012;60:59-74.
28. Tomlins SA, Rhodes DR, Perner S, et al. Recurrent fusion ofTMPRSS2 and ETS transcription factor genes in prostate cancer.Science. 2005;310:644-648. (Pubitemid 41528150)
29. Rubin MA, Maher CA, Chinnaiyan AM. Common gene rearrangementsin prostate cancer. J Clin Oncol. 2011;29:3659-3668.
30. Tomlins SA, Bjartell A, Chinnaiyan AM, et al. ETS gene fusions inprostate cancer: from discovery to daily clinical practice. Eur Urol.2009;56:275-286.
31. Pettersson A, Graff RE, Bauer SR, et al. The TMPRSS2:ERGRearrangement, ERG expression, and prostate cancer outcomes: acohort study and meta-analysis. Cancer Epidemiol Biomarkers Prev.2012;21:1497-1509.
32. Furusato B, Tan SH, Young D, et al. ERG oncoprotein expressionin prostate cancer: clonal progression of ERG-positive tumor cellsand potential for ERG-based stratification. Prostate CancerProstatic Dis. 2010;13:228-237.
33. Park K, Tomlins SA, Mudaliar KM, et al. Antibody-based detectionof ERG rearrangement-positive prostate cancer. Neoplasia.2010;12:590-598.
34. Tomlins SA, Rhodes DR, Yu J, et al. The role of SPINK1 inETS rearrangement-negative prostate cancers. Cancer Cell. 2008;13:519-528. (Pubitemid 351763901)
35. Bhalla R, Kunju LP, Tomlins SA, et al. Novel dual- colorimmunohistochemical methods for detecting ERG-PTEN andERG-SPINK1 status in prostate carcinoma. Mod Pathol.2013;26:835-848.
36. Lippolis G, Edsjo A, Stenman UH, et al. A high-density tissuemicroarray from patients with clinically localized prostate cancerreveals ERG and TATI exclusivity in tumor cells. Prostate CancerProstatic Dis. 2013;16:145-150.
37. Hollenbeck BK, Bassily N, Wei JT, et al. Whole mounted radicalprostatectomy specimens do not increase detection of adversepathological features. J Urol. 2000;164:1583-1586.
38. Young A, Palanisamy N, Siddiqui J, et al. Correlation of urineTMPRSS2:ERG and PCA3 to ERG+ and total prostate cancerburden. Am J Clin Pathol. 2012;138:685-696.
39. Wise AM, Stamey TA, McNeal JE, et al. Morphologic and clinicalsignificance of multifocal prostate cancers in radical prostatectomyspecimens. Urology. 2002;60:264-269. (Pubitemid 34831770)
40. Epstein JI, Allsbrook WC Jr, Amin MB, et al. The 2005 InternationalSociety of Urological Pathology (ISUP) Consensus Conferenceon Gleason Grading of Prostatic Carcinoma. Am J SurgPathol. 2005;29:1228-1242. (Pubitemid 41232997)
41. Humphrey PA, Kaleem Z, Swanson PE, et al. Pseudohyperplasticprostatic adenocarcinoma. Am J Surg Pathol. 1998;22:1239-1246.
42. Levi AW, Epstein JI. Pseudohyperplastic prostatic adenocarcinomaon needle biopsy and simple prostatectomy. Am J Surg Pathol.2000;24:1039-1046. (Pubitemid 30612825)
43. Mosquera JM, Perner S, Demichelis F, et al. Morphological featuresof TMPRSS2-ERG gene fusion prostate cancer. J Pathol.2007;212:91-101. (Pubitemid 46746294)
44. Tomlins SA, Palanisamy N, Siddiqui J, et al. Antibody-baseddetection of ERG rearrangements in prostate core biopsies,including diagnostically challenging cases: ERG staining in prostatecore biopsies. Arch Pathol Lab Med. 2012;136:935-946.
45. Osunkoya AO, Hansel DE, Sun X, et al. Aberrant diffuse expressionof p63 in adenocarcinoma of the prostate on needle biopsy andradical prostatectomy: report of 21 cases. Am J Surg Pathol.2008;32:461-467. (Pubitemid 351398939)
46. Giannico G, Ross H, Lotan T, et al. Adenocarcinoma of theprostate with aberrant expression of p63: a radical prostatectomystudy. Mod Pathol. 2013;26:212A.
47. Wu AJ, Kunju LP. Prostate cancer with aberrant diffuse p63expression: report of a case and review of the literature and morphologicmimics. Arch Pathol Lab Med. 2013;137:1179-1184.
48. Han B, Mehra R, Suleman K, et al. Characterization of ETS geneaberrations in select histologic variants of prostate carcinoma. ModPathol. 2009;22:1176-1185.
49. Lotan TL, Gupta NS, Wang W, et al. ERG gene rearrangements arecommon in prostatic small cell carcinomas. Mod Pathol. 2011;24:820-828.
50. Scheble VJ, Braun M, Wilbertz T, et al. ERG rearrangement insmall cell prostatic and lung cancer. Histopathology. 2010;56:937-943.
51. Braun M, Scheble VJ, Menon R, et al. Relevance of cohort designfor studying the frequency of the ERG rearrangement in prostatecancer. Histopathology. 2011;58:1028-1036.
52. Falzarano SM, Navas M, Simmerman K, et al. ERG rearrangementis present in a subset of transition zone prostatic tumors. ModPathol. 2010;23:1499-1506.
53. Guo CC, Zuo G, Cao D, et al. Prostate cancer of transition zone originlacks TMPRSS2-ERG gene fusion. Mod Pathol. 2009;22:866-871.
54. Liu S, Yoshimoto M, Trpkov K, et al. Detection of ERG generearrangements and PTEN deletions in unsuspected prostate cancerof the transition zone. Cancer Biol Ther. 2011;11:562-566.
55. Magi-Galluzzi C, Tsusuki T, Elson P, et al. TMPRSS2-ERG genefusion prevalence and class are significantly different in prostatecancer of caucasian, african-american and japanese patients.Prostate. 2011;71:489-497.
56. Mao X, Yu Y, Boyd LK, et al. Distinct genomic alterations in prostatecancers in Chinese and Western populations suggest alternativepathways of prostate carcinogenesis. Cancer Res. 2010;70:5207-5212.
57. Weischenfeldt J, Simon R, Feuerbach L, et al. Integrativegenomic analyses reveal an androgen-driven somatic alteration landscapein early-onset prostate cancer. Cancer Cell. 2013;23:159-170.
58. Barbieri CE, Baca SC, Lawrence MS, et al. Exome sequencingidentifies recurrent SPOP, FOXA1 and MED12 mutations inprostate cancer. Nat Genet. 2012;44:685-689.
59. Grasso CS,Wu YM, Robinson DR, et al. The mutational landscape oflethal castration-resistant prostate cancer. Nature. 2012;487:239-243.
60. Baca SC, Prandi D, Lawrence MS, et al. Punctuated evolution ofprostate cancer genomes. Cell. 2013;153:666-677.
61. Grupp K, Diebel F, Sirma H, et al. SPINK1 expression istightly linked to 6q15-and 5q21-deleted ERG-fusion negativeprostate cancers but unrelated to PSA recurrence. Prostate. 2013;73:1690-1698.
62. Minner S, Gartner M, Freudenthaler F, et al. Marked heterogeneityof ERG expression in large primary prostate cancers. Mod Pathol.2013;26:106-116.