Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome

Perne, Claudia; Steinke-Lange, Verena; Aretz, Stefan und Spier, Isabel (2020): Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome. In: Pathologe, Bd. 41, Nr. 5: S. 535-549

Abstract

Background: Monogenic hereditary tumor syndromes or tumor disposition syndromes (TDS) are based on germline/constitutional mutations in key genes of carcinogenesis. Early-onset and a clustering of tumors belonging to a typical spectrum in the personal or family history are indicators for a hereditary form. In particular, rare specific tumors occur relatively frequently in the context of TDS. Methods Based on a literature search, the current article presents information on which TDS should be considered for differential diagnosis (DD) in the presence of a rare tumor. Results: The identification of a causal germline mutation in the index patient is important for the DD, the evaluation of recurrence risks, and predictive testing of asymptomatic at-risk family members. In TDS with autosomal dominant inheritance, it is often possible to identify several high-risk individuals in the affected families. Conclusion Early detection and correct classification are of high clinical relevance, since the patients and persons at risk can often be offered effective preventive procedures (surveillance, prophylactic operations), and in some cases, special therapeutic options exist. TDS are paradigmatic for an extremely successful concept of preventive oncology and personalized medicine. The introduction of new methods of high-throughput sequencing (next generation sequencing) enables a more effective genetic diagnosis, but also poses a challenge for the interpretation of findings and counseling. Referral to multidisciplinary expert centers is useful for care of the families.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0172-8113
• Sprache: Deutsch