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Rolle der Molekularpathologie beim Schilddrüsenkarzinom

Tumordiagnostik, Zytologie und zielgerichtete Therapie

The role of molecular pathology in thyroid cancer

Tumor diagnostics, cytology and targeted therapy

  • Leitthema
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Der Onkologe Aims and scope

Zusammenfassung

Hintergrund

Die Diagnose und Differenzialdiagnose von Tumoren der Schilddrüse stellt nach wie vor eine Herausforderung für den Pathologen dar. Molekularpathologische Erkenntnisse erlauben zunehmend eine bessere Charakterisierung der unterschiedlichen Tumorentitäten.

Fragestellung

Die Rolle der Molekularpathologie bei der präoperativen (Feinnadelbiopsien) und postoperativen Diagnostik von Schilddrüsentumoren sowie als Entscheidungshilfe für zielgerichtete Therapien beim fortgeschrittenen Schilddrüsenkarzinom soll in diesem Beitrag diskutiert werden.

Material und Methode

Es wurden relevante wissenschaftliche Arbeiten und Übersichtsartikel zusammengefasst und ausgewertet.

Ergebnisse

Molekularpathologische Erkenntnisse bestätigen die traditionelle morphologische Unterteilung der Schilddrüsenkarzinome in 4 Hauptentitäten (papilläres, follikuläres, medulläres und anaplastisches Karzinom) mit erstaunlich geringer Überschneidung. Einige genetische Veränderungen sind für bestimmte Tumoren spezifisch und daher diagnostisch beweisend. Die biologisch absolut relevante Entität des gering differenzierten Schilddrüsenkarzinoms konnte bislang allerdings noch nicht ausreichend genetisch definiert werden. Molekularpathologische Untersuchungen werden auch erfolgreich in der Feinnadelzytologie angewendet.

Heute verfügbare zielgerichtete Therapien basieren auf genetischen Alterationen, die in der Regel vom Pathologen nachgewiesen werden. Mit hoher Wahrscheinlichkeit wird die Molekularpathologie auch bei der Entscheidung über die Therapie von fortgeschrittenen und aggressiven Schilddrüsenkarzinomen zukünftig Bedeutung erlangen.

Schlussfolgerungen

Der Nachweis von genetischen Veränderungen ist heute bei der prä- und postoperativen Diagnostik von Schilddrüsentumoren insbesondere für das papilläre Schilddrüsenkarzinom als Standard anzusehen.

Abstract

Background

The diagnostics and differential diagnosis of tumors of the thyroid glands are still challenging. Molecular genetic insights are increasingly allowing a better definition of the various tumor entities.

Objectives

The role of molecular pathology in preoperative (e.g. fine needle biopsies) and postoperative diagnostics of thyroid tumors as well as an aid to decision making in targeted therapies of advanced stage thyroid cancer.

Material and methods

A comprehensive summary based on relevant scientific and review articles in the literature.

Results

The traditional differentiation of thyroid carcinomas into four major groups (i.e. papillary, follicular, medullary and anaplastic carcinomas) based on morphology and clinical features is strongly supported by distinct genetic alterations in these four groups and with very little overlap. However, the morphologically and biologically relevant entity of poorly differentiated thyroid carcinoma still lacks a genetic definition. Molecular testing has been successfully included in the evaluation of fine needle thyroid biopsies. Currently available targeted therapies are based on genetic alterations, which are usually demonstrated by pathologists. In the future molecular pathology will most likely become an important tool in the decision-making process of targeted therapies in advanced and aggressive thyroid carcinomas.

Conclusion

Molecular pathology has become an integral part of the diagnostic routine in the preoperative and postoperative evaluation, particularly of papillary thyroid carcinoma.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. K.W. Schmid und D. Führer geben an, dass kein Interessenkonflikt besteht.

Der Beitrag enthält keine Studien an Menschen oder Tieren.

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  1. Institut für Pathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Deutschland

    K.W. Schmid

  2. Klinik für Endokrinologie und Stoffwechselerkrankungen, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland

    D. Führer

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Schmid, K., Führer, D. Rolle der Molekularpathologie beim Schilddrüsenkarzinom. Onkologe 21, 584–596 (2015). https://doi.org/10.1007/s00761-014-2858-0

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