Zusammenfassung
Uterine Sarkome sind eine heterogene Gruppe seltener Malignome. Meist (40–50 %) handelt es sich um Leiomyosarkome, gefolgt von endometrialen Stromasarkomen (ESS), low-grade (LG) und high-grade (HG), sowie undifferenzierten Sarkomen des Uterus (UUS) und Adenosarkomen (AS). Differenzialdiagnostisch äußerst schwierig sind einzelne, nicht organspezifische Tumoren wie die NTRK-rearrangierte Spindelzellneoplasie, der primäre perivaskuläre epitheloidzellige Tumor (PECom) und der inflammatorische myofibroblastäre Tumor (IMT).
In der jüngsten WHO-Klassifikation werden endometriale Stromatumoren unterteilt in: benigner, expansiv wachsender endometrialer Stromaknoten (ESN) mit scharfer Begrenzung, das histologisch gleichartig aussehende LG-ESS mit infiltrativem Wachstum und das hochmaligne HG-ESS sowie als Ausschlussdiagnose das hochaggressive UUS ohne Liniendifferenzierung. Das LG-ESS lässt sich meist histologisch und immunhistochemisch vom HG-ESS unterscheiden, molekulare Untersuchungen sind in Einzelfällen jedoch notwendig. Das HG-ESS kann auf Basis molekularer Befunde in 4 Subtypen (YWHAE/NUTM2-Fusion low-grade Komponente, YWHAE/NUTM2-Fusion high-grade Komponente, ZC3H7B-BCOR-Fusion oder BCOR-ITD) unterteilt werden. Prognostisch ungünstige Faktoren beim AS sind: starke sarkomatöse Überwucherung, tiefe Myometriuminvasion, high-grade Histologie, Lymphgefäßinvasion. Tumoren mit NTRK-Fusion sind immunhistochemisch positiv für S100 und TRK. Das PECom exprimiert Cathepsin K und HMB45 sowie TFE3 bei vorhandener Translokation. Nahezu jedes IMT weist eine Alteration im ALK-Gen auf. Eine Absicherung durch immunhistochemische und eventuell molekulare Untersuchungen ist bei überschneidender Morphologie und gleichzeitiger therapeutisch und prognostischer Relevanz von immer größerer Bedeutung.
Abstract
Uterine sarcomas are a heterogeneous group of rare malignancies. Mostly (40–50%), they are leiomyosarcomas, followed by endometrial stromal sarcomas (ESS), low-grade (LG) and high-grade (HG), as well as undifferentiated sarcoma of the uterus (UUS) and adenosarcomas (AS). Other, non-organ-specific tumours such as NTRK-rearranged spindle cell neoplasia, perivascular epithelioid cell tumour (PEComa) and inflammatory myofibroblastic tumour (IMT) are extremely difficult to differentiate.
In the most recent WHO classification, endometrial stromal tumours are subdivided as follows: benign, expansively growing endometrial stromal nodule (ESN) with sharp demarcation, the histologically similar-looking LG-ESS with infiltrative growth, the highly malignant HG-ESS and, as a diagnosis of exclusion, the highly aggressive UUS lacking specific lines of differentiation. LG-ESS can be differentiated from HG-ESS in most cases histomorphologically and immunohistochemically, but molecular investigations are necessary in individual cases. HG-ESS can be divided into 4 subtypes (YWHAE/NUTM2 fusion low-grade component, YWHAE/NUTM2 fusion high-grade component, ZC3H7B-BCOR fusion or BCOR-ITD) on the basis of molecular findings. Prognostically unfavourable factors in AS are severe sarcomatous overgrowth, deep myometrial invasion, high-grade histology and lymphatic vessel invasion. Tumours with NTRK fusion are immunohistochemically positive for S100 and TRK. PEComas express cathepsin K and HMB45, as well as TFE3 when translocation is present. Almost every IMT shows an alteration in the ALK gene In the case of overlapping morphology and simultaneous therapeutic and prognostic relevance, it is becoming increasingly important to verify or confirm the suspected histomorphological diagnosis by immunohistochemical and possibly molecular investigations.
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D. Mayr, L.‑C. Horn, G.G.R. Hiller, A.K. Höhn und E. Schmoeckel geben an, dass kein Interessenkonflikt besteht.
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Mayr, D., Horn, LC., Hiller, G.G.R. et al. Endometriale und weitere seltene uterine Sarkome. Pathologe 43, 183–195 (2022). https://doi.org/10.1007/s00292-022-01072-6
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DOI: https://doi.org/10.1007/s00292-022-01072-6