Hepatic and perihepatic PEComas: A study describing a series of five rare cases

P Vijayanirmala; Rajni Yadav; Surbhi Goyal; Adarsh Barwad; Subham Bhowmik; Rohan Malik; Sujoy Pal; Raju Sharma; Puja Sakhuja; Prasenjit Das

doi:10.4103/ijpm.ijpm_587_23

Hepatic and perihepatic PEComas: A study describing a series of five rare cases

Indian J Pathol Microbiol. 2024 Feb 19. doi: 10.4103/ijpm.ijpm_587_23. Online ahead of print.

Authors

Affiliations

¹ Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
² Department of Pathology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India.
³ Department of Paediatric Gastroenterology, All India Institute of Medical Sciences, New Delhi, India.
⁴ Department of Gastrointestinal Surgery, All India Institute of Medical Sciences, New Delhi, India.
⁵ Department of Radiology, All India Institute of Medical Sciences, New Delhi, India.

PMID: 38427771
DOI: 10.4103/ijpm.ijpm_587_23

Abstract

Background: Perivascular epithelioid cell tumors (PEComas) encompass a group of rare mesenchymal neoplasms, with dual melanocytic and muscular differentiation. Hepatic PEComas are rare and difficult to diagnose, and their behavior is still unclear.

Materials and methods: Herein, we report a total of five cases of hepatic and perihepatic PEComas over a period of the last 5 years from our and collaborating center's archive. A detailed histological evaluation was done. A comprehensive panel of immunohistochemical stains was used and fluorescence in-situ hybridization analysis was performed for the TFE3 gene using break-apart probes.

Result: All these patients were women, with an average age of presentation of 44 years. The lesions were in the right hepatic lobe: three cases, the left hepatic lobe: one case, and gastrohepatic ligament: one case. The preoperative clinicoradiological diagnoses were hepatocellular carcinoma (HCC), focal nodular hyperplasia, hemangioma, metastasis, and gastrointestinal stromal tumor, respectively. Surgical excision was performed in four cases with no further adjuvant therapy. Histopathological examination and subsequent immunophenotyping revealed a diagnosis of PEComa. Fluorescence in-situ hybridization analysis was performed for TFE3 gene rearrangement in four cases.

Conclusions: This series highlights the fact that accurate histological diagnosis of hepatic or perihepatic PEComas is important to prevent unnecessary aggressive treatment, unlike primary hepatocellular carcinomas or hepatoid/epithelioid metastatic tumors.