| Literature DB >> 28598585 |
Simone Hettmer1,2,3, Geoffroy Andrieux4, Jochen Hochrein4, Philipp Kurz3,5, Jochen Rössler1,3, Silke Lassmann2,3,5,6, Martin Werner2,3,5,6, Nikolas von Bubnoff2,3,7, Christoph Peters2,3,4, Ewa Koscielniak8,9, Monika Sparber-Sauer8, Charlotte Niemeyer1,2, Thomas Mentzel10, Hauke Busch2,3,4,6,11, Melanie Boerries2,3,4,6.
Abstract
Epithelioid hemangioendothelioma (EHE) is a rare, vascular sarcoma. Visceral forms arise in the liver/ lungs. We review the clinical and molecular phenotype of pediatric visceral EHE based on the case of a 9-year-old male child with EHE of the liver/lungs. His tumor expressed the EHE-specific fusion oncogene WWTR1-CAMTA1. Molecular characterization revealed a low somatic mutation rate and activated interferon signaling, angiogenesis regulation, and blood vessel remodeling. After polychemotherapy and resection of lung tumors, residual disease remained stable on oral lenalidomide. Literature review identified another 24 children with EHE of the liver/lungs. Most presented with multifocal, systemic disease. Only those who underwent complete resection achieved complete remission. Four children experienced rapid progression and died. In six children, disease remained stable for years without therapy. Two patients died from progressive EHE 21 and 24 years after first diagnosis. Natural evolution of pediatric visceral EHE is variable, and long-term prognosis remains unclear.Entities:
Keywords: children; epithelioid hemangioendothelioma; liver; lung; molecular characterization
Mesh:
Year: 2017 PMID: 28598585 DOI: 10.1002/pbc.26675
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167