Hereditäre Syndrome neuroendokriner Tumore

Zusammenfassung

Die diffus lokalisierten neuroendokrinen Zellen sind die größte Population an endokrin aktiven Zellen und können als neuroendokrine Tumoren (NET) maligne entarten. In diesem Beitrag werden die wichtigsten hereditären Syndrome, die für endokrine und neuroendokrine Tumoren prädisponieren, dargestellt und diskutiert. Die NET entstehen vorwiegend als sporadische Tumoren. Aktuelle Untersuchungen zur Pathogenese der sporadischen neuroendokrinen Tumoren zeigen einen engen Zusammenhang zwischen hereditären und sporadischen neuroendokrinen Tumoren auf. Im Rahmen von hereditären Syndromen wie den multiplen endokrinen Neoplasien können endokrine und neuroendokrine Tumoren sowie nicht endokrine Neoplasien auftreten. Um diese Syndrome frühzeitig zu erkennen, ist die Kenntnis der prädisponierenden Syndrome und ihrer Leitsymptome wichtig. Damit kann nicht nur die individuelle Diagnose und Therapie geplant werden, sondern auch bei erstgradigen Verwandten eine entsprechende frühzeitige Vorsorge eingeleitet werden.

Abstract

Diffuse localised neuroendocrinal cells represent the largest population of endocrinally active cells and can degenerate to malignant neuroendocrine tumours (NET). In this review the most important hereditary syndromes that predispose for endocrine and neuroendocrine tumours are presented and discussed. NET occur mainly as sporadic tumours. Current investigations on the pathogenesis of sporadic neuroendocrine tumours have revealed a close relationship between hereditary and sporadic neuroendocrine tumours. In the course of hereditary syndromes, such as multiple endocrine neoplasia, endocrine and neuroendocrine tumours as well as non-endocrine neoplasias can occur. In order to recognise these syndromes in good time a knowledge of the predisposing syndromes and their cardinal symptoms is essential. In this way not only individualised diagnosis and therapy can be planned but also an appropriate early management of first degree relatives can be initiated.

Schlüsselwörter

neuroendokrine Tumoren - hereditäre Syndrome - MEN-1 - MEN-2 - VHL - Neurofibromatose

Key words

neuroendocrine tumors - hereditary syndromes - MEN-1 - MEN-2 - VHL - neurofibromatosis

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