Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents |
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| Authors: | Simone Hettmer Geoffroy Andrieux Jochen Hochrein Philipp Kurz Jochen Rössler Silke Lassmann Martin Werner Nikolas von Bubnoff Christoph Peters Ewa Koscielniak Monika Sparber‐Sauer Charlotte Niemeyer Thomas Mentzel Hauke Busch Melanie Boerries |
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| Affiliation: | 1. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;2. German Cancer Consortium (DKTK), Partner site Freiburg, Freiburg, Germany;3. Comprehensive Cancer Center Freiburg, Freiburg, Germany;4. Institute of Molecular Medicine and Cell Research, University of Freiburg, Freiburg, Germany;5. Institute of Surgical Pathology, Medical Center and Faculty of Medicine, University of Freiburg, Freiburg, Germany;6. German Cancer Research Center (DKFZ), Heidelberg, Germany;7. Department of Hematology, Oncology and Stem Cell Transplantation, Medical Center, University of Freiburg, Freiburg, Germany;8. Klinikum Stuttgart, Zentrum für Kinder und Jugendmedizin, Olgahospital, Pediatrics 5 (Pediatric Oncology, Hematology, Immunology), Stuttgart, Germany;9. Department of Pediatric Oncology, University Children's Hospital, Tuebingen, Germany;10. Dermapathologische Gemeinschaftspraxis, Friedrichshafen, Germany;11. Lübeck Institute of Experimental Dermatology, Lübeck, Germany |
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| 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. |
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| Keywords: | children epithelioid hemangioendothelioma liver lung molecular characterization |
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