abstract
Objective
The aim of this study was to
determine the clinical characteristics of women with double primary
cancers of the colorectum and endometrium and assess the probability of
Lynch syndrome.
Study design
We
identified
15 women with paraffin-embedded blocks available who were
diagnosed, treated and followed for double primary colorectal and
endometrial cancers at in a single institution
(Korea) between 1994 and 2014. If
there was a family history that met the revised Amsterdam criteria for
Lynch syndrome, the woman was considered to have ‘clinically defined
Lynch syndrome’. If immunohistochemical (IHC) loss of expression of
mismatch repair genes (
MLH1, MSH2, MSH6, or PMS2) or high
microsatellite instability (MSI) was demonstrated in molecular testing,
the case was considered ‘suspected Lynch syndrome’.
Results
The
incidence of clinically defined Lynch syndrome according to the revised
Amsterdam criteria was 66% (8 of 15). All 8 of the women clinically
diagnosed with Lynch syndrome had either abnormal IHC loss or MSI-high,
indicating a suspected Lynch syndrome.
Furthermore, 27% (4 of 15)
experienced second primary colorectal cancer or other Lynch
syndrome-related cancers. Overall, 66% (10 of 15) met the criteria for
clinically defined Lynch syndrome or suspected Lynch syndrome.
Conclusions
Based
on our findings, a large percentage (66%) of women with double primary
cancers of the colorectum and endometrium are likely to be diagnosed
with Lynch syndrome.
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