TP53 mutational spectrum in endometrioid and serous endometrial cancers

International Journal of Gynecological Pathology

Volumn 35, Issue 4, 2016, Pages 289-300

  Schultheis, Anne M ^a   Martelotto, Luciano G ^a   De Filippo, Maria R ^a   Piscuglio, Salvatore ^a   Ng, Charlotte K Y ^a   Hussein, Yaser R ^a   Reis Filho, Jorge S ^a   Soslow, Robert A ^a   Weigelt, Britta ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Endometrial carcinoma TP53 mutation; Genomic subtype; Histologic subtype; Hotspot mutation

Indexed keywords

DNA DIRECTED DNA POLYMERASE EPSILON; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53; PTEN PROTEIN, HUMAN; TP53 PROTEIN, HUMAN;

ARTICLE; COPY NUMBER VARIATION; DIFFERENTIAL DIAGNOSIS; ENDOMETRIOID CARCINOMA; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIATION; GENOMICS; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NONSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; SEROUS ENDOMETRIAL CANCER; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; CARCINOMA, ENDOMETRIOID; CYSTADENOCARCINOMA, SEROUS; DNA MUTATIONAL ANALYSIS; ENDOMETRIAL NEOPLASMS; ENDOMETRIUM; GENETICS; GENOME; METABOLISM; MUTATION; PATHOLOGY;

CARCINOMA, ENDOMETRIOID; CYSTADENOCARCINOMA, SEROUS; DNA MUTATIONAL ANALYSIS; ENDOMETRIAL NEOPLASMS; ENDOMETRIUM; FEMALE; GENOME; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84946592939     PISSN: 02771691     EISSN: 15387151     Source Type: Journal    
DOI: 10.1097/PGP.0000000000000243     Document Type: Article

References (59)

1. Siegel R, Ma J, Zou Z, et al. Cancer statistics, 2014. CA Cancer J Clin. 2014;64:9-29.
2. Zaino RC, Ellenson SG, Eng LH, et al. Tumors of the uterine corpus. In: Kurman RJ, Carcangiu ML, Herrington CS, Young RH, eds. WHO Classification of Tumors of Female Reproductive Organs. Lyon: International Agency for Research on Cancer; 2014:121-67.
3. Bokhman JV. Two pathogenetic types of endometrial carcinoma. Gynecol Oncol. 1983;15:10-7.
4. Cancer Genome Atlas Research Network, Kandoth C, Schultz N, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497:67-73.
5. Matias-Guiu X, Prat J. Molecular pathology of endometrial carcinoma. Histopathology. 2013;62:111-23.
6. Murali R, Soslow RA, Weigelt B. Classification of endometrial carcinoma: more than two types. Lancet Oncol. 2014;15: e268-78.
7. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490:61-70.
8. Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature. 2011;474:609-15.
9. Freed-Pastor WA, Prives C. Mutant p53: one name, many proteins. Genes Dev. 2012;26:1268-86.
10. Muller PA, Vousden KH. p53 mutations in cancer. Nat Cell Biol. 2013;15:2-8.
11. Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol. 2010;2:a001008.
12. Brosh R, Rotter V. When mutants gain new powers: news from the mutant p53 field. Nat Rev Cancer. 2009;9:701-13.
13. Rivlin N, Brosh R, Oren M, et al. Mutations in the p53 tumor suppressor gene: important milestones at the various steps of tumorigenesis. Genes Cancer. 2011;2:466-74.
14. Hall PA, McCluggage WG. Assessing p53 in clinical contexts: unlearned lessons and new perspectives. J Pathol. 2006;208: 1-6.
15. Soussi T, Leroy B, Taschner PE. Recommendations for analyzing and reporting TP53 gene variants in the highthroughput sequencing era. Hum Mutat. 2014;35:766-78.
16. Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal. 2013;6:l1.
17. Petitjean A, Mathe E, Kato S, et al. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat. 2007;28:622-9.
18. Silwal-Pandit L, Vollan HK, Chin SF, et al. TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance. Clin Cancer Res. 2014;20:3569-80.
19. Muller PA, Vousden KH. Mutant p53 in cancer: new functions and therapeutic opportunities. Cancer Cell. 2014;25:304-17.
20. Garcia-Dios DA, Lambrechts D, Coenegrachts L, et al. Highthroughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma. Gynecol Oncol. 2013;128:327-34.
21. Lee EJ, Kim TJ, Kim DS, et al. p53 alteration independently predicts poor outcomes in patients with endometrial cancer: a clinicopathologic study of 131 cases and literature review. Gynecol Oncol. 2010;116:533-8.
22. Stelloo E, Bosse T, Nout RA, et al. Refining prognosis and identifying targetable pathways for high-risk endometrial cancer; a Trans PORTEC initiative. Mod Pathol. 2015;28: 836-44.
23. Allo G, Bernardini MQ, Wu RC, et al. ARID1A loss correlates with mismatch repair deficiency and intact p53 expression in high-grade endometrial carcinomas. Mod Pathol. 2014;27: 255-61.
24. McCluggage WG, Soslow RA, Gilks CB. Patterns of p53 immunoreactivity in endometrial carcinomas: 'all or nothing' staining is of importance. Histopathology. 2011;59: 786-8.
25. Garg K, Leitao MM, Jr., Wynveen CA, et al. p53 overexpression in morphologically ambiguous endometrial carcinomas correlates with adverse clinical outcomes. Mod Pathol. 2010;23:80-92.
26. Tashiro H, Isacson C, Levine R, et al. p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis. Am J Pathol. 1997;150:177-85.
27. Lax SF, Kendall B, Tashiro H, et al. The frequency of p53, Kras mutations, and microsatellite instability differs in uterine endometrioid and serous carcinoma: evidence of distinct molecular genetic pathways. Cancer. 2000;88:814-24.
28. Weigelt B, Reis-Filho JS. Epistatic interactions and drug response. J Pathol. 2014;232:255-63.
29. McConechy MK, Ding J, Cheang MC, et al. Use of mutation profiles to refine the classification of endometrial carcinomas. J Pathol. 2012;228:20-30.
30. Le Gallo M, O'Hara AJ, Rudd ML, et al. Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet. 2012;44:1310-5.
31. Kuhn E, Wu RC, Guan B, et al. Identification of molecular pathway aberrations in uterine serous carcinoma by genomewide analyses. J Natl Cancer Inst. 2012;104:1503-13.
32. Hoang LN, McConechy MK, Kobel M, et al. Histotypegenotype correlation in 36 high-grade endometrial carcinomas. Am J Surg Pathol. 2013;37:1421-32.
33. Soslow RA. High-grade endometrial carcinomas - strategies for typing. Histopathology. 2013;62:89-110.
34. Bartosch C, Manuel Lopes J, Oliva E. Endometrial carcinomas: a review emphasizing overlapping and distinctive morphological and immunohistochemical features. Adv Anat Pathol. 2011;18:415-37.
35. Soslow RA. Endometrial carcinomas with ambiguous features. Semin Diagn Pathol. 2010;27:261-73.
36. Alkushi A, Kobel M, Kalloger SE, et al. High-grade endometrial carcinoma: serous and grade 3 endometrioid carcinomas have different immunophenotypes and outcomes. Int J Gynecol Pathol. 2010;29:343-50.
37. Hussein YR, Broaddus R, Weigelt B, et al. The genomic heterogeneity of FIGO grade 3 endometrioid carcinoma impacts diagnostic accuracy and reproducibility. Int J Gynecol Pathol. 2015. [Epub ahead of print].
38. Joerger AC, Fersht AR. Structure-function-rescue: the diverse nature of common p53 cancer mutants. Oncogene. 2007;26: 2226-42.
39. Leroy B, Anderson M, Soussi T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat. 2014;35:672-88.
40. Chiang S, Soslow RA. Updates in diagnostic immunohistochemistry in endometrial carcinoma. Semin Diagn Pathol. 2014;31:205-15.
41. Djordjevic B, Hennessy BT, Li J, et al. Clinical assessment of PTEN loss in endometrial carcinoma: immunohistochemistry outperforms gene sequencing. Mod Pathol. 2012;25: 699-708.
42. Hussein YR, Weigelt B, Levine DA, et al. Clinicopathological analysis of endometrial carcinomas harboring somatic POLE exonuclease domain mutations. Mod Pathol. 2015;28:505-14.
43. Garg K, Leitao MM, Jr., Kauff ND, et al. Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol. 2009;33:925-33.
44. Carcangiu ML, Radice P, Casalini P, et al. Lynch syndrome- related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types. Int J Surg Pathol. 2010;18:21-6.
45. Broaddus RR, Lynch HT, Chen LM, et al. Pathologic features of endometrial carcinoma associated with HNPCC: a compar-ison with sporadic endometrial carcinoma. Cancer. 2006;106: 87-94.
46. Slomovitz BM, Coleman RL. The PI3K/AKT/mTOR pathway as a therapeutic target in endometrial cancer. Clin Cancer Res. 2012;18:5856-64.
47. Weigelt B, Warne PH, Lambros MB, et al. PI3K pathway dependencies in endometrioid endometrial cancer cell lines. Clin Cancer Res. 2013;19:3533-44.
48. Cheung LW, Hennessy BT, Li J, et al. High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discov. 2011;1:170-85.
49. Shoji K, Oda K, Kashiyama T, et al. Genotype-dependent efficacy of a dual PI3K/mTOR inhibitor, NVP-BEZ235, and an mTOR inhibitor, RAD001, in endometrial carcinomas. PLoS One. 2012;7:e37431.
50. Myers AP. New strategies in endometrial cancer: targeting the PI3K/mTOR pathway - the devil is in the details. Clin Cancer Res. 2013;19:5264-74.
51. Weigelt B, Downward J. Genomic determinants of PI3K pathway inhibitor response in cancer. Front Oncol. 2012;2:109.
52. Wang L, Ye X, Liu Y, et al. Aberrant regulation of FBW7 in cancer. Oncotarget. 2014;5:2000-15.
53. He L, Torres-Lockhart K, Forster N, et al. Mcl-1 and FBW7 control a dominant survival pathway underlying HDAC and Bcl-2 inhibitor synergy in squamous cell carcinoma. Cancer Discov. 2013;3:324-37.
54. Aydin IT, Melamed RD, Adams SJ, et al. FBXW7 mutations in melanoma and a new therapeutic paradigm. J Natl Cancer Inst. 2014;106:dju107.
55. Mao JH, Kim IJ, Wu D, et al. FBXW7 targets mTOR for degradation and cooperates with PTEN in tumor suppression. Science. 2008;321:1499-502.
56. Villaruz LC, Socinski MA. Temsirolimus therapy in a patient with lung adenocarcinoma harboring an FBXW7 mutation. Lung Cancer. 2014;83:300-1.
57. Meng B, Hoang LN, McIntyre JB, et al. POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium. Gynecol Oncol. 2014;134:15-9.
58. Church DN, Stelloo E, Nout RA, et al. Prognostic significance of POLE proofreading mutations in endometrial cancer. J Natl Cancer Inst. 2015;107:402.
59. Louis DN, Perry A, Burger P, et al. International Society Of Neuropathology - Haarlem consensus guidelines for nervous system tumor classification and grading. Brain Pathol. 2014;24:429-35.