Ovarian and endometrial endometrioid adenocarcinomas have distinct profiles of microsatellite instability, PTEN expression, and ARID1A expression

Histopathology

Volumn 66, Issue 4, 2015, Pages 517-528

  Huang, Hsien Neng ^a,b   Lin, Ming Chieh ^b   Tseng, Li Hui ^b   Chiang, Ying Cheng ^b   Lin, Liang In ^a   Lin, Yu Feng ^a   Huang, Hsin Ying ^c   Kuo, Kuan Ting ^a,b  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c NATIONAL TAICHUNG UNIVERSITY OF EDUCATION   (Taiwan)

Author keywords

PTEN; ARID1A; CTNNB1; Endometrial cancer; Endometrioid adenocarcinoma; Microsatellite instability; Mismatch repair proteins; Ovarian cancer

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; RETINOBLASTOMA BINDING PROTEIN 2; ARID1A PROTEIN, HUMAN; BETA CATENIN; CTNNB1 PROTEIN, HUMAN; KRAS PROTEIN, HUMAN; NUCLEAR PROTEIN; ONCOPROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN; PTEN PROTEIN, HUMAN; RAS PROTEIN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; CANCER GROWTH; CARCINOGENESIS; CONTROLLED STUDY; CTNNB1 GENE; DNA METHYLATION; ENDOMETRIOID CARCINOMA; ENDOMETRIUM CARCINOMA; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATIONAL ANALYSIS; ONCOGENE K RAS; OVARY CARCINOMA; PHENOTYPE; PIK3CA GENE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PTEN GENE; REAL TIME POLYMERASE CHAIN REACTION; YOUNG ADULT; ENDOMETRIUM TUMOR; GENETICS; METABOLISM; MUTATION; OVARY TUMOR; PATHOLOGY;

ADULT; BETA CATENIN; CARCINOMA, ENDOMETRIOID; ENDOMETRIAL NEOPLASMS; FEMALE; HUMANS; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS; PTEN PHOSPHOHYDROLASE; RAS PROTEINS; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84922782628     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/his.12543     Document Type: Article

References (38)

1. Tavassoli FA, Devilee P eds. Pathology and genetics: tumours of the breast and female genital organs. Lyon: IARC Press, 2003.
2. O'Hara AJ, Bell DW. The genomics and genetics of endometrial cancer. Adv. Genomics Genet. 2012; 2012; 33-47.
3. Burgart LJ. Testing for defective DNA mismatch repair in colorectal carcinoma: a practical guide. Arch. Pathol. Lab. Med. 2005; 129; 1385-1389.
4. Esteller M, Catasus L, Matias-Guiu X et al. hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis. Am. J. Pathol. 1999; 155; 1767-1772.
5. Goodfellow PJ, Buttin BM, Herzog TJ et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc. Natl Acad. Sci. USA 2003; 100; 5908-5913.
6. Catasus L, Bussaglia E, Rodriguez 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; 1360-1368.
7. Domanska K, Malander S, Masback A, Nilbert M. Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. Int. J. Gynecol. Cancer 2007; 17; 789-793.
8. Singer G, Kallinowski T, Hartmann A et al. Different types of microsatellite instability in ovarian carcinoma. Int. J. Cancer 2004; 112; 643-646.
9. 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; 255-261.
10. Song T, Seong SJ, Bae DS et al. Synchronous primary cancers of the endometrium and ovary in young women: a Korean Gynecologic Oncology Group Study. Gynecol. Oncol. 2013; 131; 624-628.
11. Soliman PT, Broaddus RR, Schmeler KM et al. Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome? J. Clin. Oncol. 2005; 23; 9344-9350.
12. Maeda D, Mao TL, Fukayama M et al. Clinicopathological significance of loss of ARID1A immunoreactivity in ovarian clear cell carcinoma. Int. J. Mol. Sci. 2010; 11; 5120-5128.
13. Cai KQ, Albarracin C, Rosen D et al. Microsatellite instability and alteration of the expression of hMLH1 and hMSH2 in ovarian clear cell carcinoma. Hum. Pathol. 2004; 35; 552-559.
14. McConechy MK, Ding J, Senz J et al. Ovarian and endometrial endometrioid carcinomas have distinct CTNNB1 and PTEN mutation profiles. Mod. Pathol. 2014; 27; 128-134.
15. Bacher JW, Flanagan LA, Smalley RL et al. Development of a fluorescent multiplex assay for detection of MSI-High tumors. Dis. Markers 2004; 20; 237-250.
16. Geyer JT, Lopez-Garcia MA, Sanchez-Estevez C et al. Pathogenetic pathways in ovarian endometrioid adenocarcinoma: a molecular study of 29 cases. Am. J. Surg. Pathol. 2009; 33; 1157-1163.
17. McCluggage WG. Morphological subtypes of ovarian carcinoma: a review with emphasis on new developments and pathogenesis. Pathology 2011; 43; 420-432.
18. McConechy MK, Anglesio MS, Kalloger SE et al. Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas. J. Pathol. 2011; 223; 567-573.
19. Djordjevic B, Barkoh BA, Luthra R, Broaddus RR. Relationship between PTEN, DNA mismatch repair, and tumor histotype in endometrial carcinoma: retained positive expression of PTEN preferentially identifies sporadic non-endometrioid carcinomas. Mod. Pathol. 2013; 26; 1401-1412.
20. Fujii H, Matsumoto T, Yoshida M et al. Genetics of synchronous uterine and ovarian endometrioid carcinoma: combined analyses of loss of heterozygosity, PTEN mutation, and microsatellite instability. Hum. Pathol. 2002; 33; 421-428.
21. Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J. Mol. Diagn. 2008; 10; 293-300.
22. Aysal A, Karnezis A, Medhi I, Grenert JP, Zaloudek CJ, Rabban JT. Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instability. Am. J. Surg. Pathol. 2012; 36; 163-172.
23. Tseng LH, Tang JL, Haley L et al. Microsatellite instability confounds engraftment analysis of hematopoietic stem-cell transplantation. Appl. Immunohistochem. Mol. Morphol. 2014; 22; 416-420.
24. Huang HN, Lin MC, Huang WC, Chiang YC, Kuo KT. Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations and ZNF217 amplification in ovarian clear cell carcinoma. Mod. Pathol. 2014; 27; 983-990.
25. Liau JY, Liao SL, Hsiao CH, Lin MC, Chang HC, Kuo KT. Hypermethylation of the CDKN2A gene promoter is a frequent epigenetic change in periocular sebaceous carcinoma and is associated with younger patient age. Hum. Pathol. 2014; 45; 533-539.
26. Kurose K, Zhou XP, Araki T, Cannistra SA, Maher ER, Eng C. Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. Am. J. Pathol. 2001; 158; 2097-2106.
27. Maeda D, Shih I. Pathogenesis and the role of ARID1A mutation in endometriosis-related ovarian neoplasms. Adv. Anat. Pathol. 2013; 20; 45-52.
28. Kuo KT, Mao TL, Jones S et al. Frequent activating mutations of PIK3CA in ovarian clear cell carcinoma. Am. J. Pathol. 2009; 174; 1597-1601.
29. Weisenberger DJ, Siegmund KD, Campan M et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat. Genet. 2006; 38; 787-793.
30. Ogino S, Kawasaki T, Brahmandam M et al. Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis. J. Mol. Diagn. 2006; 8; 209-217.
31. Segev Y, Pal T, Rosen B et al. Risk factors for ovarian cancers with and without microsatellite instability. Int. J. Gynecol. Cancer 2013; 23; 1010-1015.
32. Cancer Genome Atlas Research Network, Kandoth C, Schultz N et al. Integrated genomic characterization of endometrial carcinoma. Nature 2013; 497; 67-73.
33. Ulbright TM, Roth LM. Metastatic and independent cancers of the endometrium and ovary: a clinicopathologic study of 34 cases. Hum. Pathol. 1985; 16; 28-34.
34. 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.
35. Bosse T, Ter Haar NT, Seeber LM et al. Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer. Mod. Pathol. 2013; 26; 1525-1535.
36. Lagarda H, Catasus L, Arguelles R, Matias-Guiu X, Prat J. K-ras mutations in endometrial carcinomas with microsatellite instability. J. Pathol. 2001; 193; 193-199.
37. Joehlin-Price AS, Perrino CM, Stephens J et al. Mismatch repair protein expression in 1049 endometrial carcinomas, associations with body mass index, and other clinicopathologic variables. Gynecol. Oncol. 2014; 133; 43-47.
38. Kunkel TA, Erie DA. DNA mismatch repair. Annu. Rev. Biochem. 2005; 74; 681-710.