Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
Joint Authors
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-17, 17 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-16
Country of Publication
Egypt
No. of Pages
17
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Wong, Adele& Ngeow, Joanne. 2015. Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?. BioMed Research International،Vol. 2015, no. 2015, pp.1-17.
https://search.emarefa.net/detail/BIM-1054672
Modern Language Association (MLA)
Wong, Adele& Ngeow, Joanne. Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?. BioMed Research International No. 2015 (2015), pp.1-17.
https://search.emarefa.net/detail/BIM-1054672
American Medical Association (AMA)
Wong, Adele& Ngeow, Joanne. Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-17.
https://search.emarefa.net/detail/BIM-1054672
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1054672