Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?

详细信息    查看全文

• 作者：Taejong Song^a ; ¹ ; Min Kyu Kim^b ; ¹ ; Yoo-Young Lee^c ; Chel Hun Choi^c ; Tae-Joong Kim^c ; Jeong-Won Lee^c ; Duk-Soo Bae^c ; Byoung-Gie Kim^c ; ^{bgkim@skku.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Lynch syndrome ; Double primary cancers ; Colorectal cancer ; Endometrial cancer
• 刊名：European Journal of Obstetrics & Gynecology and Reproductive Biology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：199
• 期：Complete
• 页码：208-212
• 全文大小：699 K

文摘

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 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.