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BioMed Research International
Volume 2015, Article ID 219012, 17 pages
Review Article

Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

1Department of Pathology and Laboratory Medicine, KK Women’s and Children’s Hospital, Singapore 229899
2Cancer Genetics Service, National Cancer Centre Singapore, Singapore 169610
3Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore 169857
4Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore 169610

Received 4 October 2014; Accepted 23 November 2014

Academic Editor: Ignacio Zapardiel

Copyright © 2015 Adele Wong and Joanne Ngeow. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Endometrial carcinoma is the most common gynecological tumor worldwide. It can be the presenting malignancy, acting as the harbinger, of an undiagnosed hereditary syndrome. Up to 50% of females with Lynch syndrome present in this manner. Differentiation between Lynch, Muir-Torre, and Cowden syndromes can at times be challenging due to the overlapping features. Our review emphasizes on the strengths, pitfalls, and limitations of microscopic features as well as immunohistochemical and polymerase chain reaction- (PCR-) based tests used by laboratories to screen for DNA mismatch repair (MMR) and PTEN gene mutations in patients to enable a more targeted and cost effective approach in the use of confirmatory gene mutational analysis tests. This is crucial towards initiating timely and appropriate surveillance measures for the patient and affected family members. We also review the evidence postulating on the possible inclusion of uterine serous carcinoma as part of the spectrum of malignancies seen in hereditary breast and ovarian carcinoma syndrome, driven by mutations in BRCA1/2.