Primary Perivascular Epitheloid Cell Tumour (PEComa) of the Liver: Case Report and Review of the Literature

Abstract

Purpose: Perivascular epitheloid cell tumour [PEComa] is a rare neoplasm entity, characterized by perivascular epitheloid cells with a coexpression of smooth muscle and melanocytic markers. PEComas are found in a variety of localizations, though lesions within the liver are still scarcely found. Although the majority of these tumours are recognized as benign, there are some reports about advanced and aggressive tumours even with fatal outcome. By means of this case report and literary review including other 21 published cases, potential treatment modalities concerning clinical diagnostics, therapy and the follow-up care should be discussed.

Methods: The following report presents the case of a 53-year old woman with a known liver lesion, since four years under regularly sonographic controls. Finally, after a haemorrhage episode, the lesion was resected and the diagnosis found. For the literary review a systematic search for case reports published between January 1, 1999 and May 1, 2012 was performed on Pubmed.

Results: The only way, till now, of confirming the diagnosis is through immunohistochemical examinations. The already published Malignancy criteria by Folpe et al. must be taken carefully in question, as there are cases of malignant behaviour, that do not exactly coincide with these.

Conclusion: Primary PEComa of the liver must be treated as potential malignant and therefore a close follow-up is demanded.

Zusammenfassung

Einleitung: Der perivaskuläre epitheloide Zelltumor (PECom) ist eine seltene Tumorentität, gekennzeichnet durch das Vorhandensein der perivaskulären epitheloiden Zelle mit der Fähigkeit zur Koexpression von sowohl glattmuskulären als auch melanozytären Markern. PECome sind bislang in den unterschiedlichsten Lokalisationen beschrieben worden, wobei das Vorkommen in der Leber eine Rarität darstellt. Der Tumor wird zumeist als benigne eingestuft, jedoch existieren auch Berichte über fortgeschrittene, aggressive Verläufe mit sogar letalem Ausgang. Anhand eines Case reports und einer Literaturübersicht wollen wir hier die Anwendung der diagnostischen und therapeutischen Möglichkeiten und das Vorgehen im Rahmen der Nachsorge diskutieren.

Material/Methoden: Im Folgenden berichten wir über eine 53-jährige Patientin mit einer seit 4 Jahren bekannten Raumforderung der Leber, die sich schließlich nach einer Einblutung dieser Raumforderung bei uns vorstellte. Es erfolgte eine Resektion und die Diagnose konnte gestellt werden. Für die Literaturrecherche erfolgte eine Suche in PubMed über den Zeitraum Januar 1999 bis Mai 2012.

Ergebnisse: Eine Diagnosestellung ist bislang nur über immunhistochemische Untersuchungen möglich. Die von Folpe et al. publizierten Malignitätskriterien müssen hinsichtlich der Lokalisation Leber kritisch betrachtet werden, da es auch zu aggressiven malignen Verläufen kommen kann, die den Kriterien nach primär nicht zu erwarten wären.

Schlussfolgerung: Primäre PECome der Leber sollten als potenziell maligne eingestuft und die Nachsorge dementsprechend engmaschig und akkurat durchgeführt werden.

Key words

liver - PEComa - HMB 45 - Angiomyolipoma - perivascular epitheloid cell

Schlüsselwörter

Leber - PECom - HMB 45 - Angiomyolipom - perivaskuläre epitheloide Zelltumor

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