Format

Send to

Choose Destination
Gynecol Oncol. 2014 Oct;135(1):81-4. doi: 10.1016/j.ygyno.2014.07.100. Epub 2014 Aug 2.

Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

Author information

1
Department of Pathology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA. Electronic address: koah@hawaii.edu.
2
Department of Pathology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.
3
Department of Obstetrics, Gynecology, and Women's Health, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.
4
Biostatistics Core, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.

Abstract

OBJECTIVE:

Patients with Lynch Syndrome are at an increased risk for a variety of malignancies, including ovarian cancer. Ovarian cancers associated with Lynch Syndrome are predominantly clear cell or endometrioid in histology. Lynch Syndrome is characterized by germline mutations in mismatch repair (MMR) genes. The current study aims to assess the prevalence of loss of MMR expression in patients with endometrioid and clear cell ovarian carcinoma.

METHODS:

A retrospective review identified 90 patients with endometrioid and/or clear cell carcinomas. Slides made from tumor tissue microarray blocks were evaluated using immunohistochemical stains with antibodies against MLH1, PMS2, MSH2, and MSH6. Statistical analysis was performed.

RESULTS:

Seven of the 90 cases (7.8%) had loss of MMR expression. The mean age of patients with loss of MMR expression (47 years) was significantly younger than those with retained MMR expression (p=0.014). Loss of MMR expression was present in 20% of patients under the age of 53 with clear cell or endometrioid cancers. Genetic studies found that 3 of the 5 patients with loss of MMR expression carried mutations consistent with Lynch Syndrome; acquired hypermethylation of MLH1 was noted in one patient. Six of 7 patients (86%) whose tumors lacked MMR expression had synchronous or metachronous primary malignancies, a significantly greater prevalence than those with retained MMR expression (p<0.001).

CONCLUSION:

Patients under the age of 53 with clear cell or endometrioid ovarian carcinomas are at a clinically significant risk for loss of MMR expression and Lynch Syndrome; routine screening with immunohistochemical staining should be considered.

KEYWORDS:

Clear cell ovarian carcinoma; Endometrioid ovarian carcinoma; Lynch Syndrome; Microsatellite instability; Mismatch repair; Ovarian cancer

PMID:
25093288
PMCID:
PMC4492474
DOI:
10.1016/j.ygyno.2014.07.100
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center