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Bildgebung bei Tumorprädispositionssyndromen

Imaging of tumor predisposition syndromes

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Zusammenfassung

Klinisches Problem

Tumorprädispositionssyndrome (TPS) sind eine heterogene Gruppe von genetisch bedingten Krebserkrankungen. Von den rund 2200 malignen Erkrankungen im Kindesalter in Deutschland entstehen ca. 10 % auf der Grundlage einer erblichen Veranlagung, wobei TPS vermutlich unterdiagnostiziert werden. Der Fokus des Übersichtsartikels liegt auf der Bildgebung bei Li-Fraumeni-Syndrom, Neurofibromatosen, tuberöser Sklerose, Großwuchs- und neuroendokrinen Syndromen.

Radiologische Standardverfahren

Um Tumoren frühzeitig zu detektieren, sind regelmäßige, für das jeweilige TPS spezifische Früherkennungsmaßnahmen erforderlich. Hierbei kommt der Sonographie und der Magnetresonanztomographie (MRT), insbesondere der Ganzkörper-MRT (GK-MRT), eine entscheidende Bedeutung zu.

Methodische Innovationen

Innovative MRT-Techniken können Bildqualität und Patientenkomfort steigern. Die Untersuchungszeit ist durch optimierte Beschleunigungsfaktoren, gegenüber Bewegung robuste radiäre Sequenzen und die gemeinsame Akquisition und Auslese mehrerer Schichten während einer Anregung signifikant reduzierbar. Somit können kürzere MRT-Untersuchungen bei jüngeren Kindern auch ohne Anästhesie durchführt werden.

Empfehlung für die Praxis

Regelmäßige Früherkennung mittels Sonographie und MRT kann Morbidität und Mortalität bei TPS reduzieren.

Abstract

Clinical issue

Tumor predisposition syndromes (TPS) are a heterogeneous group of genetic cancers. About 10% of the approximately 2200 malignancies in the childhood in Germany develop due to an inherited disposition, whereby TPS may be underdiagnosed. The focus of this review is set on imaging of Li–Fraumeni syndrome, neurofibromatoses, tuberous sclerosis, overgrowth, and neuroendocrine syndromes.

Standard radiological methods

In order to detect tumors at an early stage, screening at specific time intervals for each TPS are required. Ultrasonography and magnetic resonance imaging (MRI), especially whole-body MRI, are particularly important imaging modalities.

Methodological innovations

Innovative MRI techniques can increase image quality and patient comfort. MRI acquisition time can be significantly reduced through optimized acceleration factors, motion robust radial sequences and joint acquisition and readout of multiple slices during excitation. Thus, shorter MRI examinations can be performed in younger children without anesthesia.

Practical recommendation

Regular screening with ultrasound and MRI can reduce the morbidity and mortality of the patients affected with TPS.

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Authors and Affiliations

  1. Institut für Diagnostische und Interventionelle Radiologie, Sektion Kinderradiologie, Universitätsklinikum Jena, 07740, Jena, Deutschland

    K. Glutig

  2. Klinik für Innere Medizin III, Universitätsklinikum Jena, 07740, Jena, Deutschland

    A. Pfeil

  3. Institut für Diagnostische und Interventionelle Radiologie, Arbeitsbereich Kinderradiologie, Medizinische Hochschule Hannover, 30625, Hannover, Deutschland

    D. M. Renz

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  1. K. Glutig
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Correspondence to K. Glutig.

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Interessenkonflikt

K. Glutig, A. Pfeil und D.M. Renz 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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Glutig, K., Pfeil, A. & Renz, D.M. Bildgebung bei Tumorprädispositionssyndromen. Radiologe 61, 658–666 (2021). https://doi.org/10.1007/s00117-021-00861-z

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