endometrial carcinoma

Endometrial cancer is the most common gynecological malignancy, with more than 280,000 cases occurring annually worldwide.

Variants

 endometrial giant cell carcinoma (#20588176#)

Molecular pathology (Oncobase)

Two clinicopathological variants are recognized:
 the oestrogen-related (type I, endometrioid carcinoma)
 the non-oestrogen-related (type II, non-endometrioid carcinoma).
 Whereas type I shows microsatellite instability and mutations in PTEN, PIK3CA, K-RAS and CTNNB1 (beta-catenin), type II exhibits TP53 mutations and chromosomal instability.

 exome sequencing

• Although previous studies have identified important common somatic mutations in endometrial cancer, they have primarily focused on a small set of known cancer genes and have thus provided a limited view of the molecular basis underlying this disease.
• The results revealed 12 potential driver cancer genes including 10 tumor-suppressor candidates (ARID1A, INHBA, KMO, TTLL5, GRM8, IGFBP3, AKTIP, PHKA2, TRPS1, and WNT11) and two oncogene candidates (ERBB3 and RPS6KC1).
• ARID1A mutations frequently co-occur with mutations in the phosphatidylinositol 3-kinase (PI3K) pathway and are associated with PI3K pathway activation.

 non-coding RNAs

• Recent investigations regarding the role of non-coding RNA have provided important information regarding tumour progression.

References

 Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer. Liang H, Cheung LW, Li J, Ju Z, Yu S, Stemke-Hale K, Dogruluk T, Lu Y, Liu X, Gu C, Guo W, Scherer SE, Carter H, Westin SN, Dyer MD, Verhaak RG, Zhang F, Karchin R, Liu CG, Lu KH, Broaddus RR, Scott KL, Hennessy BT, Mills GB. Genome Res. 2012 Nov;22(11):2120-9. doi: 10.1101/gr.137596.112 . PMID: #23028188#

 Molecular pathology of endometrial carcinoma. Matias-Guiu X, Prat J. Histopathology. 2013 Jan;62(1):111-23. doi: 10.1111/his.12053 . PMID: #23240673#

 Significant variation in the assessment of cervical involvement in endometrial carcinoma: an interobserver variation study. McCluggage WG, Hirschowitz L, Wilson GE, Oliva E, Soslow RA, Zaino RJ. Am J Surg Pathol. 2011 Feb;35(2):289-94. PMID: #21263250#

 Endometrial giant cell carcinoma: a case series and review of the spectrum of endometrial neoplasms containing giant cells. Mulligan AM, Plotkin A, Rouzbahman M, Soslow RA, Gilks CB, Clarke BA. Am J Surg Pathol. 2010 Aug;34(8):1132-8. PMID: #20588176#

 Molecular pathology of endometrial carcinoma: practical aspects from the diagnostic and therapeutic viewpoints. D Llobet, J Pallares, A Yeramian, M Santacana, N Eritja, A Velasco, X Dolcet, and X Matias-Guiu. J Clin Pathol 2009; 62: 777-785. PMID: #18977806#

 Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. Garg K, Soslow RA. J Clin Pathol. 2009 Aug;62(8):679-84. PMID: #19638537#

 Ellenson LH. Early molecular changes in endometrial cancer. Int J Gynecol Cancer. 2005 Mar-Apr;15(2):399-400. PMID: #15823134#