Abstract
Although patients with Lynch syndrome (LS) are at high risk of endometrial cancer, gynecologic screening has been poorly investigated and diagnostic value of current screening tests remains unclear. Microsatellite instability (MSI) phenotype is found in more than 90% of endometrial cancers developed in LS patients. Here we report the first two cases of unstable endometrial tumors with detection of MSI in uterine cavity washings cells. This new technique may be a promising screening tool in LS.
Abbreviations
- HNPCC:
-
Hereditary non polyposis colorectal cancer
- LS:
-
Lynch syndrome
- MMR:
-
Mismatch repair
- MSI:
-
Microsatellite instability
References
Loukola A, Eklin K, Laiho P et al (2001) Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 61:4545–4549
Vasen HF, Mecklin JP, Khan PM, Lynch H (1994) The international collaborative group on HNPCC. Anticancer Res 14:1661–1664
Quehenberger F, Vasen HF, van Houwelingen HC (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42:491–496
Garg K, Leitao MM Jr, Kauff ND et al (2009) Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol 33:925–933
Manchanda R, Menon U, Michaelson-Cohen R, Beller U, Jacobs I (2009) Hereditary non-polyposis colorectal cancer or Lynch syndrome: the gynaecological perspective. Curr Opin Obstet Gynecol 21:31–38
Amira N, Mourah S, Rozet F et al (2002) Non-invasive molecular detection of bladder cancer recurrence. Int J Cancer 101:293–297
Mourah S, Cussenot O, Vimont V et al (1998) Assessment of microsatellite instability in urine in the detection of transitional-cell carcinoma of the bladder. Int J Cancer 79:629–633
Steiner G, Schoenberg MP, Linn JF, Mao L, Sidransky D (1997) Detection of bladder cancer recurrence by microsatellite analysis of urine. Nat Med 3:621–624
Goel A, Nagasaka T, Hamelin R, Boland CR (2010) An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One 5:e9393
Ichikawa Y, Lemon SJ, Wang S et al (1999) Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members. Cancer Genet Cytogenet 112:2–8
Risinger JI, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J (1993) Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 53:5100–5103
Imai K, Yamamoto H (2008) Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics. Carcinogenesis 29:673–680
Tinelli A, Mezzolla V, Leo G et al (2010) Microsatellite instability (MSI) as genomic markers in endometrial cancer: toward scientific evidences. Mini Rev Med Chem 10(14):1356–1365
Ichikawa Y, Tsunoda H, Takano K, Oki A, Yoshikawa H (2002) Microsatellite instability and immunohistochemical analysis of MLH1 and MSH2 in normal endometrium, endometrial hyperplasia and endometrial cancer from a hereditary nonpolyposis colorectal cancer patient. Jpn J Clin Oncol 32:110–112
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Bouquier, J., Blons, H., Narjoz, C. et al. Microsatellite instability analysis in uterine cavity washings as a screening tool for endometrial cancer in Lynch syndrome. Familial Cancer 10, 655–657 (2011). https://doi.org/10.1007/s10689-011-9470-x
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DOI: https://doi.org/10.1007/s10689-011-9470-x