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

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 syndrome...

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Published in:BioMed Research International Vol. 2015; pp. 1 - 18
Main Authors: Wong, Adele, Ngeow, Joanne
Format: review tables/charts Journal Article
Published: Wiley-Blackwell 6/16/2015
Online Access:View this record in EBSCOhost
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      jtl: BioMed Research International
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      dt: 6/16/2015
      vid: 2015
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        109274585
        109274585
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        10.1155/2015/219012
        109274585
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        atl: Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
      aug:
        au:
          Wong, Adele
          Ngeow, Joanne
        affil: Department of Pathology and Laboratory Medicine, KK Women’s and Children’s Hospital, Singapore, 229899
      sug:
        subj:
          Endometrial Neoplasms Symptoms
          Risk Assessment Evaluation
          Neoplastic Syndromes, Hereditary Familial and Genetic
          Neoplastic Syndromes, Hereditary Diagnosis
          Polymerase Chain Reaction
          Genes Classification
          Immunohistochemistry
          Colorectal Neoplasms, Hereditary Nonpolyposis Familial and Genetic
          Hamartoma Syndrome, Multiple Familial and Genetic
          Genes, BRCA
      ab: 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.
      pubtype: Academic Journal
      doctype:
        review
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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