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Lynch-Syndrom (HNPCC‑Syndrom)

Lynch syndrome (HNPCC syndrome)

  • Leitthema
  • Published:
Der Gynäkologe Aims and scope

Zusammenfassung

Das Lynch-Syndrom (LS) ist eines der häufigsten erblichen Tumorsyndrome. Bei betroffenen Frauen tritt als erstes Malignom (Sentinelkarzinom) häufig ein Endometrium- und/oder Ovarialkarzinom auf, meistens im jüngeren Lebensalter als bei sporadischen Fällen. Diese haben meist eine gute Prognose, sollten aber von den betreuenden Gynäkologen als Hinweis auf ein LS erkannt werden und eine Abklärungsdiagnostik (molekularpathologische Untersuchungen, ggf. genetische Beratung und Keimbahntestung) zur Folge haben. Bei gesichertem LS sind eine intensivierte gastroenterologische Früherkennung sowie eine genetische Beratung und Testung (Kaskadentestung) der Angehörigen indiziert. Die Möglichkeiten und Limitationen einer intensivierten gynäkologischen Früherkennung und prophylaktische Operationen sollten mit den betroffenen Frauen besprochen werden. Sie sollten von einer Institution, die über Kompetenz in der Diagnostik, Therapie und Prävention bei Patientinnen mit hereditären Tumorerkrankungen verfügt, mitbetreut werden.

Abstract

Lynch syndrome (LS) is one of the most frequent hereditary cancer syndromes. In many affected women the first LS-associated malignancy (so-called sentinel carcinoma) is endometrial and/or ovarian cancer, usually at a younger age than in sporadic cases. Although these tumors tend to have a good prognosis, the responsible gynecologist should recognize them as a signal for LS and initiate adequate screening procedures for LS. If positive, genetic counselling and germline testing should be recommended. Carriers of LS mutations should be offered intensified gastroenterological surveillance as well as genetic counselling and testing (cascade testing) of their families. The options and limitations of intensified gynecological surveillance and prophylactic surgery should be discussed with affected women. They should be managed in collaboration with centers qualified for the diagnostics, screening, treatment, surveillance and prevention of hereditary cancer syndromes.

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Author information

Authors and Affiliations

  1. Universitätsfrauenklinik Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland

    Günter Emons

  2. Institut für Humangenetik, Zentrum für erbliche Tumorerkrankungen, Universitätsklinikum Bonn, Bonn, Deutschland

    Stefan Aretz

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  1. Günter Emons
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Correspondence to Günter Emons.

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Interessenkonflikt

G. Emons und S. Aretz geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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G. Emons, Göttingen

M. Kiechle, München

R. Schmutzler, Köln

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Emons, G., Aretz, S. Lynch-Syndrom (HNPCC‑Syndrom). Gynäkologe 53, 748–755 (2020). https://doi.org/10.1007/s00129-020-04686-0

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  • DOI: https://doi.org/10.1007/s00129-020-04686-0

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