title: Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore 229899.
authors.forename: Adele
authors.initials: A
authors.lastname: Wong
authors.affiliation: Cancer Genetics Service, National Cancer Centre Singapore, Singapore 169610 ; Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore 169857 ; Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore 169610.
authors.forename: Joanne
authors.initials: J
authors.lastname: Ngeow
mesh_terms: D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000473:pathology*; D053843:DNA Mismatch Repair; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D055653:Muir-Torre Syndrome / Q000175:diagnosis / Q000473:pathology*; D018570:Risk Assessment