Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas

Journal of the National Cancer Institute

Volumn 108, Issue 6, 2016, Pages

  Schultheis, Anne M ^a   Ng, Charlotte K Y ^a   De Filippo, Maria R ^a   Piscuoglio, Salvatore ^a   Macedo, Gabriel S ^a   Gatius, Sonia ^b   Perez Mies, Belen ^c   Soslow, Robert A ^a   Lim, Raymond S ^a   Viale, Agnes ^a   Huberman, Kety H ^a   Palacios, Jose C ^c   Reis Filho, Jorge S ^a   Matias Guiu, Xavier ^b   Weigelt, Britta ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b HOSPITAL UNIVERSITARI ARNAU DE VILANOVA   (Spain)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

K RAS PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MSH6; DNA;

AMPLICON; ARTICLE; CANCER GRADING; CLINICAL ARTICLE; CLONAL VARIATION; ENDOMETRIOID CARCINOMA; ENDOMETRIOID ENDOMETRIAL CARCINOMA; ENDOMETRIUM CARCINOMA; ENDOMETRIUM HYPERPLASIA; FEMALE; GENE DOSAGE; GENE EXPRESSION; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN GENOME; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MASSIVELY PARALLEL SEQUENCING; METASTASIS; MISMATCH REPAIR; OVARY CARCINOMA; PRIMARY TUMOR; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; STATISTICAL SIGNIFICANCE; TUMOR VOLUME; WHOLE EXOME SEQUENCING; CANCER STAGING; CELL CLONE; DNA MUTATIONAL ANALYSIS; ENDOMETRIUM TUMOR; EXOME; GENETICS; HETEROZYGOSITY LOSS; HIGH THROUGHPUT SEQUENCING; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MULTIPLE CANCER; NEOPLASM; OVARY TUMOR; PATHOLOGY; PROCEDURES;

CARCINOMA, ENDOMETRIOID; CLONE CELLS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; ENDOMETRIAL NEOPLASMS; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOHISTOCHEMISTRY; LOSS OF HETEROZYGOSITY; MICROSATELLITE INSTABILITY; NEOPLASM STAGING; NEOPLASMS, GLANDULAR AND EPITHELIAL; NEOPLASMS, MULTIPLE PRIMARY; OVARIAN NEOPLASMS;

EID: 84977080556     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djv427     Document Type: Article

References (42)

1. Zaino R, Whitney C, Brady MF, et al. Simultaneously detected endometrial and ovarian carcinomas-A prospective clinicopathologic study of 74 cases: A gynecologic oncology group study. Gynecol Oncol. 2001;83(2):355-362.
2. Kurman RJ, Carcangiu ML, Herrington CS, et al. WHO Classification of Tumours of Female Reproductive Organs. Lyon: IARC; 2014.
3. Soliman PT, Slomovitz BM, Broaddus RR, et al. Synchronous primary cancers of the endometrium and ovary: A single institution review of 84 cases. Gynecol Oncol. 2004;94(2):456-462.
4. Ramus SJ, Elmasry K, Luo Z, et al. Predicting clinical outcome in patients diagnosed with synchronous ovarian and endometrial cancer. Clin Cancer Res. 2008;14(18):5840-5848.
5. Ulbright TM, Roth LM. Metastatic and independent cancers of the endometrium and ovary: A clinicopathologic study of 34 cases. Hum Pathol. 1985;16(1):28-34.
6. Scully RE, Young RH, Clement PB. Endometrioid tumors. In: Scully RE, Young RH, Clement PB. Tumors of the ovary, maldeveloped gonads, fallopian tube, and broad ligament. Third series, fascicle 23. Washington, DC: Armed Forces Institute of Pathology; 1998: 107-140.
7. Chiang YC, Chen CA, Huang CY, et al. Synchronous primary cancers of the endometrium and ovary. Int J Gynecol Cancer. 2008;18(1):159-164.
8. Lim YK, Padma R, Foo L, et al. Survival outcome of women with synchronous cancers of endometrium and ovary: A 10 year retrospective cohort study. J Gynecol Oncol. 2011;22(4):239-243.
9. Williams MG, Bandera EV, Demissie K, et al. Synchronous primary ovarian and endometrial cancers: A population-based assessment of survival. Obstet Gynecol. 2009;113(4):783-789.
10. Eifel P, Hendrickson M, Ross J, et al. Simultaneous presentation of carcinoma involving the ovary and the uterine corpus. Cancer. 1982;50(1):163-170.
11. Matias-Guiu X, Lagarda H, Catasus L, et al. Clonality analysis in synchronous or metachronous tumors of the female genital tract. Int J Gynecol Pathol. 2002;21(3):205-211.
12. Rodolakis A, Thomakos N, Akrivos N, et al. Clinicopathologic insight of simultaneously detected primary endometrial and ovarian carcinomas. Arch Gynecol Obstet. 2012;285(3):817-821.
13. Prat J, Matias-Guiu X, Barreto J. Simultaneous carcinoma involving the endometrium and the ovary. A clinicopathologic, immunohistochemical, and DNA flow cytometric study of 18 cases. Cancer. 1991;68(11):2455-2459.
14. Irving JA, Catasus L, Gallardo A, et al. Synchronous endometrioid carcinomas of the uterine corpus and ovary: alterations in the beta-catenin (CTNNB1) pathway are associated with independent primary tumors and favorable prognosis. Hum Pathol. 2005;36(6):605-619.
15. Robboy SJ, Datto MB. Synchronous endometrial and ovarian tumors: metastatic disease or independent primaries? Hum Pathol. 2005;36(6):597-599.
16. Silva EG, Matias-Guiu X. Clonality in gynecologic neoplasms: is it time to reevaluate clonality studies in gynecologic neoplasms? Is it possible to confirm multicentricity with clonality studies? Ann Diagn Pathol. 2012;16(4):312-314.
17. Moreno-Bueno G, Gamallo C, Perez-Gallego L, et al. beta-Catenin expression pattern, beta-catenin gene mutations, and microsatellite instability in endometrioid ovarian carcinomas and synchronous endometrial carcinomas. Diagn Mol Pathol. 2001;10(2):116-122.
18. Catasus L, Bussaglia E, Rodrguez I, et al. Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas. Hum Pathol. 2004;35(11):1360-1368.
19. McConechy MK, Anglesio MS, Kalloger SE, et al. Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas. J Pathol. 2011;223(5):567-573.
20. McConechy MK, Ding J, Senz J, et al. Ovarian and endometrial endometrioid carcinomas have distinct CTNNB1 and PTEN mutation profiles. Mod Pathol. 2014;27(1):128-134.
21. Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366(10):883-892.
22. Schwarz RF, Ng CK, Cooke SL, et al. Spatial and temporal heterogeneity in high-grade serous ovarian cancer: A phylogenetic analysis. PLoS Med. 2015;12(2):e1001789.
23. Yates LR, Gerstung M, Knappskog S, et al. Subclonal diversification of primary breast cancer revealed by multiregion sequencing. Nat Med. 2015;21(7):751-759.
24. de Bruin EC, McGranahan N, Mitter R, et al. Spatial and temporal diversity in genomic instability processes defines lung cancer evolution. Science. 2014;346(6206):251-256.
25. Ding L, Ellis MJ, Li S, et al. Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature. 2010;464(7291):999-1005.
26. Turajlic S, Furney SJ, Lambros MB, et al. Whole genome sequencing of matched primary and metastatic acral melanomas. Genome Res. 2012;22(2):196-207.
27. Figo Committee on Gynecologic Oncology. FIGO staging for carcinoma of the vulva, cervix, and corpus uteri. Int J Gynaecol Obstet. 2014;125(2):97-98.
28. Prat J; Figo Committee on Gynecologic Oncology. Staging classification for cancer of the ovary, fallopian tube, and peritoneum. Int J Gynaecol Obstet. 2014;124(1):1-5.
29. Zaino RJ, Kurman RJ, Diana KL, et al. The utility of the revised International Federation of Gynecology and Obstetrics histologic grading of endometrial adenocarcinoma using a defined nuclear grading system. A Gynecologic Oncology Group study. Cancer. 1995;75(1):81-86.
30. McCluggage WG, Judge MJ, Clarke BA, et al. Data set for reporting of ovary, fallopian tube and primary peritoneal carcinoma: recommendations from the International Collaboration on Cancer Reporting (ICCR). Mod Pathol. 2015;28(8):1101-1122.
31. 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(11):1166-1169.
32. Guerini-Rocco E, Hodi Z, Piscuoglio S, et al. The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study [published online ahead of print May 23, 2015]. J Pathol. 2015. doi:10.1002/path.4566.
33. Cheng DT, Mitchell TN, Zehir A, et al. Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology. J Mol Diagn. 2015;17(3):251-264.
34. Cancer Genome Atlas Research Network, Kandoth C, Schultz N, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497(7447):67-73.
35. Alexandrov LB, Nik-Zainal S, Wedge DC, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-421.
36. Anglesio MS, Wang YK, Maassen M, et al. Synchronous Endometrial and Ovarian Carcinomas: Evidence of Clonality. J Natl Cancer Inst. 2016;108(6):djv428 doi:10.1093/jnci/djv428.
37. Shlien A, Campbell BB, de Borja R, et al. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultrahypermutated cancers. Nat Genet. 2015;47(3):257-262.
38. Helleday T, Eshtad S, Nik-Zainal S. Mechanisms underlying mutational signatures in human cancers. Nat Rev Genet. 2014;15(9):585-598.
39. Kandoth C, McLellan MD, Vandin F, et al. Mutational landscape and significance across 12 major cancer types. Nature. 2013;502(7471):333-339.
40. Futreal PA, Coin L, Marshall M, et al. A census of human cancer genes. Nat Rev Cancer. 2004;4(3):177-183.
41. Lawrence MS, Stojanov P, Mermel CH, et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature. 2014;505(7484):495-501.
42. Murugaesu N, Wilson GA, Birkbak NJ, et al. Tracking the Genomic Evolution of Esophageal Adenocarcinoma through Neoadjuvant Chemotherapy. Cancer Discov. 2015;5(8):821-831.