TY - JOUR
T1 - Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents
AU - Hettmer, Simone
AU - Andrieux, Geoffroy
AU - Hochrein, Jochen
AU - Kurz, Philipp
AU - Rössler, Jochen
AU - Lassmann, Silke
AU - Werner, Martin
AU - von Bubnoff, Nikolas
AU - Peters, Christoph
AU - Koscielniak, Ewa
AU - Sparber-Sauer, Monika
AU - Niemeyer, Charlotte
AU - Mentzel, Thomas
AU - Busch, Hauke
AU - Boerries, Melanie
N1 - © 2017 Wiley Periodicals, Inc.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
U2 - 10.1002/pbc.26675
DO - 10.1002/pbc.26675
M3 - Scientific review articles
C2 - 28598585
SN - 1545-5009
VL - 64
JO - Pediatric blood & cancer
JF - Pediatric blood & cancer
IS - 12
ER -