Subscribe to RSS
DOI: 10.1055/s-2006-924165
Georg Thieme Verlag KG Stuttgart · New York
Erbliches Endometrium- und Ovarialkarzinom bei Patientinnen mit Lynch-Syndrom
Hereditary Endometrial and Ovarian Cancer in Patients with Lynch SyndromePublication History
Eingang Manuskript: 11.1.2006
Eingang revidiertes Manuskript: 30.3.2006
Akzeptiert: 5.4.2006
Publication Date:
18 August 2006 (online)
Zusammenfassung
Das Endometrium- wie auch das Ovarialkarzinom können Bestandteil eines Lynch-Syndroms/HNPCC sein. Für Patientinnen mit Lynch-Syndrom/HNPCC besteht zusätzlich ein Tumorrisiko im Bereich des Dickdarms und in anderen Organsystemen. Deshalb benötigen diese Patientinnen sowie deren Familienangehörige ein komplexes Früherkennungsprogramm, das ein interdisziplinäres Betreuungskonzept zur Voraussetzung hat. Die klinischen Aspekte sowie Grundzüge der Genetik des Lynch-Syndroms/HNPCC werden erläutert, Untersuchungen zur Tumorfrüherkennung sowie die genetische Beratung und Diagnostik werden vorgestellt.
Abstract
Both endometrial cancer and ovarian cancer can be part of Lynch syndrome/HNPCC. In this case patients also have an increased risk of developing colon cancer or cancer of other organs. Therefore, cancer screening can only be provided using an interdisciplinary clinical setting in these high-risk individuals and their families. Clinical aspects and the genetic background of Lynch syndrome/HNPCC are outlined. Screening recommendations as well as genetic counselling and testing are described in this review.
Schlüsselwörter
Lynch-Syndrom - HNPCC - Endometriumkarzinom - Ovarialkarzinom - erblich
Key words
Lynch syndrome - HNPCC - endometrial cancer - ovarian cancer - hereditary
Literatur
- 1 Aarnio M, Mecklin J P, Aaltonen L A, Nystrom-Lahti M, Jarvinen H J. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995; 64 430-433
- 2 Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen L A, de la Chapelle A, Peltomaki P, Mecklin J P, Jarvinen H J. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999; 81 214-218
- 3 Amant F, Moerman P, Neven P, Timmerman D, Van Limbergen E, Vergote I. Endometrial cancer. Lancet. 2005; 366 491-505
- 4 Arnold M A, Goggins M. BRCA2 and predisposition to pancreatic and other cancers. Expert Rev Mol Med. 2001; 2001 1-10
- 5 Baudhuin L M, Ferber M J, Winters J L, Steenblock K J, Swanson R L, French A J, Butz M L, Thibodeau S N. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology. 2005; 129 846-854
- 6 Boyd J. Genetic basis of familial endometrial cancer: is there more to learn?. J Clin Oncol. 2005; 23 4570-4573
- 7 Bundesärztekammer . Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Ärzteblatt. 1998; 95 A1396-A1403
- 8 Bundesärztekammer . Richtlinien zur prädiktiven genetischen Diagnostik. Dtsch Ärzteblatt. 2003; 100 A1297-A1305
- 9 Burke W, Daly M, Garber J, Botkin J, Kahn M J, Lynch P, McTiernan A, Offit K, Perlman J, Petersen G, Thomson E, Varricchio C. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. Jama. 1997; 277 997-1003
- 10 Collins V, Meiser B, Gaff C, John St DJ, Halliday J. Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer. 2005; 104 273-281
- 11 Dove-Edwin I, Boks D, Goff S, Kenter G G, Carpenter R, Vasen H F, Thomas H J. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002; 94 1708-1712
- 12 Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox C P, Ruschoff J, Keller G, Dietmaier W, Rummele P, Friedrichs N, Mangold E, Buettner R, Schackert H K, Kienle P, Stemmler S, Moeslein G, Loeffler M. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2006; 118 115-122
- 13 Fishman D A, Cohen L, Blank S V, Shulman L, Singh D, Bozorgi K, Tamura R, Timor-Tritsch I, Schwartz P E. The role of ultrasound evaluation in the detection of early-stage epithelial ovarian cancer. Am J Obstet Gynecol. 2005; 192 1214-1221
- 14 Friedberg E C. DNA damage and repair. Nature. 2003; 421 436-440
- 15 Jacobs I J, Menon U. Progress and challenges in screening for early detection of ovarian cancer. Mol Cell Proteomics. 2004; 3 355-366
- 16 Karlan B Y, Baldwin R L, Lopez-Luevanos E, Raffel L J, Barbuto D, Narod S, Platt L D. Peritoneal serous papillary carcinoma, a phenotypic variant of familial ovarian cancer: implications for ovarian cancer screening. Am J Obstet Gynecol. 1999; 180 917-928
- 17 Lu H K, Broaddus R R. Gynecologic Cancers in Lynch Syndrome/HNPCC. Fam Cancer. 2005; 4 249-254
- 18 Lu K H, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, Bandipalliam P, Chen L M, Allen B, Conrad P, Terdiman J, Sun C, Daniels M, Burke T, Gershenson D M, Lynch H, Lynch P, Broaddus R R. Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005; 105 569-574
- 19 Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Muller-Koch Y, Keller G, Schackert H K, Kruger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Ruschoff J, Propping P. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2005; 116 692-702
- 20 NIH . NIH consensus conference. Ovarian cancer. Screening, treatment, and follow-up. NIH consensus development panel on ovarian cancer. JAMA. 1995; 273 491-497
- 21 Piver M S, Goldberg J M, Tsukada Y, Mettlin C J, Jishi M F, Natarajan N. Characteristics of familial ovarian cancer: a report of the first 1000 families in the Gilda Radner Familial Ovarian Cancer Registry. Eur J Gynaecol Oncol. 1996; 17 169-176
- 22 Rijcken F E, Mourits M J, Kleibeuker J H, Hollema H, van der Zee A G. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2003; 91 74-80
- 23 Schmiegel W, Pox C, Adler G, Fleig W, Folsch U R, Fruhmorgen P, Graeven U, Hohenberger W, Holstege A, Junginger T, Kuhlbacher T, Porschen R, Propping P, Riemann J F, Sauer R, Sauerbruch T, Schmoll H J, Zeitz M, Selbmann H K. [S3-Guidelines Conference “Colorectal Carcinoma” 2004]. Z Gastroenterol. 2004; 42 1129-1177
- 24 Schulmann K, Brasch F E, Kunstmann E, Engel C, Pagenstecher C, Vogelsang H, Kruger S, Vogel T, Knaebel H P, Ruschoff J, Hahn S A, Knebel-Doeberitz M V, Moeslein G, Meltzer S J, Schackert H K, Tympner C, Mangold E, Schmiegel W. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology. 2005; 128 590-599
- 25 Vasen H F, Watson P, Mecklin J P, Jass J R, Green J S, Nomizu T, Muller H, Lynch H T. The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res. 1994; 14 1675-1678
- 26 Wagner A, van Kessel I, Kriege M G, Tops C M, Wijnen J T, Vasen H F, van der Meer C A, van Oostrom I I, Meijers-Heijboer H. Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer. 2005; 4 295-300
PD Dr. med. Erdmute Kunstmann
Humangenetik, Ruhr-Universität
MA5/043
Universitätsstr. 150
44801 Bochum
Germany
Email: erdmute.kunstmann@rub.de