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Case Reports
. 2018 Mar 25;19(4):979.
doi: 10.3390/ijms19040979.

Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

Kohei Nakamura  1 , Kentaro Nakayama  2 , Toshiko Minamoto  3 , Tomoka Ishibashi  4 , Kaori Ohnishi  5 , Hitomi Yamashita  6 , Ruriko Ono  7 , Hiroki Sasamori  8 , Sultana Razia  9 , Mohammad Mahmud Hossain  10 , Shanta Kamrunnahar  11 , Masako Ishikawa  12 , Noriyoshi Ishikawa  13 , Satoru Kyo  14
Affiliations
Case Reports

Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

Kohei Nakamura et al. Int J Mol Sci. .

Abstract

Lynch syndrome, a hereditary cancer syndrome, occurs because of germline mutations in at least one of four DNA mismatch repair genes (MutL Homolog 1 (MLH1), MutS Homolog 2 (MSH2), MutS Homolog 6 (MSH6), and PMS1 Homolog 2 (PMS2)). The disorder is associated with colorectal, endometrial, and other epithelial malignancies, but not cervical cancer. We report a woman with Lynch syndrome with synchronous cervical cancer. This is the first report of Lynch syndrome-related clear cell carcinoma of the cervix, which indicates the possibility of an association between cervical cancer and Lynch syndrome. Suitable genetic tests are required to determine whether common genetics can account for synchronous or subsequent malignancies in Lynch syndrome patients and their families. Such knowledge will also enhance our understanding of the genetic mechanisms governing the development of apparently unrelated cancers.

Keywords: Lynch syndrome; cervical cancer; immunohistochemistry.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(a) Pelvic magnetic resonance imaging of the tumor in the endocervix; (b) Contrast-enhanced computed tomography of the abdomen showing the transverse colon tumor.
Figure 2
Figure 2
(a) Colon carcinoma showing invasion into the submucosa (hematoxylin and eosin, 200×); (b) Hematoxylin and eosin staining of the cervical clear cell carcinoma. The glycogen-rich clear cells cytoplasm with high-grade nuclear atypia (400×).
Figure 3
Figure 3
(a) Immunohistochemical staining of the colon carcinoma. The colon carcinoma was negative for MSH2 (MutS Homolog 2) and MSH6 (MutS Homolog 6) and positive for MLH1 (MutL Homolog 1) and PMS2 (PMS1 Homolog 2) (200×), which was in agreement with the germline mutation in MSH2 and MSH6; (b) Immunohistochemical staining of the cervical carcinoma. The cervical carcinoma was negative for MSH2 and MSH6 and positive for MLH1 and PMS2 (200×), which was in agreement with the germline mutation in MSH2 and MSH6; (c) Microsatellite instability analysis of the cervical carcinoma. Allele length patterns of eight mononucleotide markers in control (top) and cervical tumor (bottom) tissues; two microsatellite markers (BAT25 and BAT26) show instability, visible as the shift in the size (base pairs) of the amplification products in the cervical tumor sample (BAT25) and new alleles in the cervical tumor sample (BAT26).
Figure 3
Figure 3
(a) Immunohistochemical staining of the colon carcinoma. The colon carcinoma was negative for MSH2 (MutS Homolog 2) and MSH6 (MutS Homolog 6) and positive for MLH1 (MutL Homolog 1) and PMS2 (PMS1 Homolog 2) (200×), which was in agreement with the germline mutation in MSH2 and MSH6; (b) Immunohistochemical staining of the cervical carcinoma. The cervical carcinoma was negative for MSH2 and MSH6 and positive for MLH1 and PMS2 (200×), which was in agreement with the germline mutation in MSH2 and MSH6; (c) Microsatellite instability analysis of the cervical carcinoma. Allele length patterns of eight mononucleotide markers in control (top) and cervical tumor (bottom) tissues; two microsatellite markers (BAT25 and BAT26) show instability, visible as the shift in the size (base pairs) of the amplification products in the cervical tumor sample (BAT25) and new alleles in the cervical tumor sample (BAT26).
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References

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