Top

Published in:

01-12-2011

Microsatellite instability analysis in uterine cavity washings as a screening tool for endometrial cancer in Lynch syndrome

Authors: Julie Bouquier, Hélène Blons, Céline Narjoz, Fabrice Lécuru, Pierre Laurent-Puig, Anne-Sophie Bats

Published in: Familial Cancer | Issue 4/2011

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.

Loukola A, Eklin K, Laiho P et al (2001) Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 61:4545–4549PubMed

Vasen HF, Mecklin JP, Khan PM, Lynch H (1994) The international collaborative group on HNPCC. Anticancer Res 14:1661–1664PubMed

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 42:491–496PubMedCrossRef

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 33:925–933PubMedCrossRef

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 21:31–38PubMedCrossRef

Amira N, Mourah S, Rozet F et al (2002) Non-invasive molecular detection of bladder cancer recurrence. Int J Cancer 101:293–297PubMedCrossRef

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 79:629–633PubMedCrossRef

Steiner G, Schoenberg MP, Linn JF, Mao L, Sidransky D (1997) Detection of bladder cancer recurrence by microsatellite analysis of urine. Nat Med 3:621–624PubMedCrossRef

Goel A, Nagasaka T, Hamelin R, Boland CR (2010) An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One 5:e9393PubMedCrossRef

10.

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 112:2–8PubMedCrossRef

11.

Risinger JI, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J (1993) Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 53:5100–5103PubMed

12.

Imai K, Yamamoto H (2008) Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics. Carcinogenesis 29:673–680PubMedCrossRef

13.

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):1356–1365PubMedCrossRef

14.

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 32:110–112PubMedCrossRef

Title: Microsatellite instability analysis in uterine cavity washings as a screening tool for endometrial cancer in Lynch syndrome
Authors: Julie Bouquier
Hélène Blons
Céline Narjoz
Fabrice Lécuru
Pierre Laurent-Puig
Anne-Sophie Bats
Publication date: 01-12-2011
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9470-x

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2011

Abstracts

Familial colorectal cancer type X syndrome: two distinct molecular entities?

Concerns about inherited risk of breast cancer prior to diagnosis in Japanese patients with breast complaints

The identification and management of hereditary diffuse gastric cancer in a large Jordanian family

Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

Keynote webinar | Spotlight on antibody–drug conjugates in cancer