A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors

Modern Pathology

Volumn 28, Issue 12, 2015, Pages 1603-1612

  Conlon, Niamh ^a   Schultheis, Anne M ^a   Piscuoglio, Salvatore ^a   Silva, Annacarolina ^b   Guerra, Esther ^b   Tornos, Carmen ^c   Reuter, Victor E ^a   Soslow, Robert A ^a   Young, Robert H ^b   Oliva, Esther ^b   Weigelt, Britta ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DICER; DICER1; HYDROLASE; UNCLASSIFIED DRUG; DEAD BOX PROTEIN; DICER1 PROTEIN, HUMAN; RIBONUCLEASE III;

ADULT; ANDROBLASTOMA; ARTICLE; CARCINOGENESIS; CARCINOSARCOMA; CLINICAL ARTICLE; FEMALE; FEMALE GENITAL TRACT TUMOR; GENE MUTATION; GRANULOSA CELL TUMOR; HOTSPOT MUTATION; HUMAN; HUMAN TISSUE; MALE; MICRODISSECTION; OVARY TUMOR; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SERTOLI CELL TUMOR; SEX CORD TUMOR; TESTIS TUMOR; TUMOR DIFFERENTIATION; UTERUS; CELL TRANSFORMATION; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

CELL TRANSFORMATION, NEOPLASTIC; DEAD-BOX RNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MICRODISSECTION; MUTATION; OVARIAN NEOPLASMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBONUCLEASE III; SEX CORD-GONADAL STROMAL TUMORS; TESTICULAR NEOPLASMS;

EID: 84949535499     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2015.115     Document Type: Article

References (31)

1. Kurman RJ, Carcangiu ML, Herrington CS, et al. (eds). Tumours of the ovary. In: WHO classification of tumours of female reproductive organs. IARC: Lyon, 2014, pp 11-86
2. Young RH, Scully RE. Ovarian Sertoli-Leydig cell tumors. A clinicopathological analysis of 207 cases. Am J Surg Pathol 1985; 9: 543-569
3. Oliva E, Alvarez T, Young RH. Sertoli cell tumors of the ovary: a clinicopathologic and immunohistochemical study of 54 cases. Am J Surg Pathol 2005; 29: 143-156
4. Young RH, Welch WR, Dickersin R, et al. Ovarian sex cord tumor with annular tubules. Review of 74 cases including 27 with Peutz-Jeghers Syndrome and 4 with adenoma malignum of the cervix. Cancer 1982; 50: 1384-1402
5. Eble JN, Sauter G, Epstein JI, et al. (eds). Tumours of the testis and paratesticular tissue. In: World Health Organization classification of tumours. Pathology and genetics of tumours of the urinary system and male genital organs. IARC: Lyon, 2004, pp 217-278
6. Young RH, Koelliker DD, Scully RE. Sertoli cell tumors of the testis, not otherwise specified: a clinicopathologic analysis of 60 cases. Am J Surg Pathol 1998; 22: 709-721
7. Washecka RM, Mariani AJ, Honda SA. Testicular tumors in Carney's complex. J Urol 2002; 167: 1299-1302
8. Shah SP, Kobel M, Senz J, et al. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med 2009; 360: 2719-2729
9. Goulvent T, Ray-Coquard I, Borel S, et al. DICER1 and FOXL2 mutations in ovarian sex cord-stromal tumors: a GINECO group study. Histopathology 2015, e-pub ahead of print 1 June 2015; doi: 10.1111/his.12747
10. Heravi-Moussavi A, Anglesio MS, Cheng SW, et al. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med 2012; 366: 234-242
11. Witkowski L, Mattina J, Schonberger S, et al. DICER1 hotspot mutations in non-epithelial gonadal tumors. Br J Cancer 2013; 109: 2744-2750
12. Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009; 325: 965
13. Slade I, Bacchelli C, Davies H, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome. J Med Genet 2011; 48: 273-278
14. Foulkes WD, Priest JR, Duchaine TF. DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 2014; 14: 662-672
15. Geyer FC, Lacroix-Triki M, Colombo PE, et al. Molecular evidence in support of the neoplastic and precursor nature of microglandular adenosis. Histopathology 2012; 60: E115-E130
16. Weinreb I, Piscuoglio S, Martelotto LG, et al. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. Nat Genet 2014; 46: 1166-1169
17. Cancer Genome Atlas Research Network. Integrated genomic characterization of endometrial carcinoma. Nature 2013; 497: 67-73
18. Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 2013; 6: pl1
19. Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature 2011; 474: 605-615
20. Oost EE, Charles A, Choong CS, et al. Ovarian sex cordstromal tumors in patients with probable or confirmed germline DICER1 mutations. Int J Gynecol Pathol 2015; 34: 266-274
21. Lei L, Jin S, Gonzalez G, et al. The regulatory role of Dicer in folliculogenesis in mice. Mol Cell Endocrinol 2010; 315: 63-73
22. Hong X, Luense LJ, McGinnis LK, et al. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology 2008; 149: 6207-6212
23. Nagaraja AK, Andreu-Vieyra C, Franco HL, et al. Deletion of Dicer in somatic cells of the female reproductive tract causes sterility. Mol Endocrinol 2008; 22: 2336-2352
24. Otsuka M, Zheng M, Hayashi M, et al. Impaired microRNA processing causes corpus luteum insufficiency and infertility in mice. J Clin Invest. 2008; 118: 1944-1954
25. Yuan S, Ortogero N, Wu Q, et al. Murine follicular development requires oocyte DICER, but not DROSHA. Biol Reprod 2014; 91: 39
26. Kim GJ, Georg I, Scherthan H, et al. Dicer is required for Sertoli cell function and survival. Int J Dev Biol 2010; 54: 867-875
27. Papaioannou MD, Pitetti JL, Ro S, et al. Sertoli cell Dicer is essential for spermatogenesis in mice. Dev Biol 2009; 326: 250-259
28. Rutgers SL, Scully RE. Pathology of the testis in intersex syndromes. Semin Diagn Pathol 1987; 4: 275-291
29. Gourgari E, Saloustros E, Stratakis CA. Large-cell calcifying Sertoli cell tumors of the testes in pediatrics. Curr Opin Pediatr 2012; 24: 518-522
30. Tanwar PS, Kaneko-Tarui T, Zhang L, et al. Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis. Hum Mol Genet 2012; 21: 4394-4405
31. Perrone F, Bertolotti A, Montemurro G, et al. Frequent mutation and nuclear localization of b-catenin in Sertoli cell tumors of the testis. Am J Surg Pathol 2014; 38: 66-71