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Hereditäre und nichthereditäre syndromale gastrointestinale Stromatumoren

Hereditary and non-hereditary syndromic gastointestinal stromal tumours

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Zusammenfassung

Gastrointestinale Stromatumoren (GIST) treten überwiegend als solitäre Raumforderungen im Gastrointestinaltrakt auf, meistens bei Patienten zwischen 50 und 70 Jahren. Ein kleiner Anteil (≤5%) wird im Rahmen einer familiären oder idiopathischen multineoplastischen Erkrankung festgestellt. Mit absteigender Häufigkeit stellen der M. Recklinghausen (NF-1), die Carney-Trias (Magen-GIST, pulmonale Chondrome und extraadrenale Paragangliome), familiäre GIST-Syndrome infolge einer Keimbahnmutation in c-Kit/PDGFRA und das Carney-Stratakis-Syndrom (hereditäres GIST-Paragangliom-Syndrom infolge einer Keimbahnmutation in den mitochondrialen Succinat-Dehydrogenase-Subeinheiten SDHD, SDHC und SDHB) die wichtigsten bisher definierten GIST-Syndrome dar. Da die Betroffenen und deren Angehörige einer speziellen Behandlung bzw. Betreuung bedürfen, kommt der rechtzeitigen Erkennung und der präzisen Zuordnung dieser vermutlich noch wesentlich unterdiagnostizierten Krankheitsbilder eine große Bedeutung zu. Im Folgenden wird eine Übersicht über die wichtigsten klinisch-pathologischen und molekulargenetischen Merkmale dieser Erkrankungen vermittelt, womit ihre Erkennung erleichtert und insbesondere die Unterscheidung gegenüber sporadischen Syndrom-imitierenden Konstellationen ermöglicht werden soll.

Abstract

The majority of gastrointestinal stromal tumours (GISTs) present as solitary gastrointestinal masses in adults aged 50–70 years. A small subset of GISTs (≤5%) occurs in the setting of familial or idiopathic multitumour syndrome. In decreasing order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), familial GIST syndromes resulting from germline mutations in c-Kit/PDGFRA and the Carney-Stratakis syndrome (hereditary GIST paraganglioma syndrome caused by germline mutations in the mitochondrial tumour suppressor gene pathway involving the succinate dehydrogenase subunits SDHD, SDHC and SDHB) represent the four most important GIST syndromes characterized to date. Since affected patients and their family members require special treatment and/or counseling and follow-up, early diagnosis and precise classification of this likely still underdiagnosed diseases is of the utmost importance. This review summarizes the pertinent clinicopathological and molecular features of the main GIST syndromes to facilitate their diagnosis and distinction from their non-syndromic mimics.

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Interessenkonflikt

Der korrespondierende Autor weist auf folgende Beziehungen hin: Priv.-Doz. Dr. Agaimy erhielt Vortragshonorare von der Firma Novartis.

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  1. Institut für Pathologie, Universitätsklinikum Erlangen, Krankenhausstr. 12, 91054, Erlangen, Deutschland

    A. Agaimy & A. Hartmann

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  1. A. Agaimy
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  2. A. Hartmann
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Correspondence to A. Agaimy.

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Agaimy, A., Hartmann, A. Hereditäre und nichthereditäre syndromale gastrointestinale Stromatumoren. Pathologe 31, 430–437 (2010). https://doi.org/10.1007/s00292-010-1354-6

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