Dataset Information

The observational EURACAN prospective clinical registry dedicated to epithelioid hemangioendothelioma: The protocol of an international and collaborative effort on an ultra-rare entity.

ABSTRACT:

Introduction

Epithelioid hemangioendothelioma (EHE) is an ultra-rare sarcoma, marked by distinctive molecular and pathological features and with a variable clinical behavior. Its natural history is still partially understood, reliable prognostic and predictive factors are lacking and many questions are still open on the optimal management. In the context of EURACAN, a prospective registry specifically dedicated to EHE was developed and launched with the aim of providing, through high-quality prospective data collection, a better understanding of this disease.

Study design

Registry-based cohort study including only new cases of patients with a pathological and molecularly confirmed diagnosis of EHE.

Objectives

To improve the understanding of EHE natural history, validate and identify new prognostic and predictive factors, clarify the activity and efficacy of currently available treatment options, describe treatment pattern.

Methods

Settings and participantsIt is an hospital-based registry established in centers with expertise in EHE including adult patients with a new pathological and molecularly confirmed diagnosis of EHE starting from the 1st December 2023. The characteristics of each patient in the facility who meets the above-mentioned inclusion criteria will be collected prospectively and longitudinally with follow-up at cancer progression and / or cancer relapse or patient death. It is a secondary use of data which will be collected from the clinical records. The data collected for the registry will not entail further examinations or admissions to the facility and/or additional appointments to those normally provided for routine patient follow-up. VariablesFull details on patients and disease features, treatment and outcome will be collected, according to common clinical practice guidelines developed and shared with all the contributing centers. In addition, data on potential confounders (e.g. comorbidity; functional status etc.) will also be collected. Statistical methodsThe data analyses will include descriptive statistics and analytical analyses. Multivariable Cox's proportional hazards model and Hazard ratios (HR) for all-cause or cause-specific mortality will be used to determine independent predictors of overall survival, recurrence and progression.

Results

The registry has been joined by 21 sarcoma reference centers across EU and UK, covering 10 countries. Patients' recruitment started in December 2023. The estimated completion date is December 2033 upon agreement on the achievement of all the registry objectives. The already established collaboration and participation of EHE patient's associations involved in the project will help in promoting the registry and fostering accrual.

SUBMITTER: Frezza AM

PROVIDER: S-EPMC11318912 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Publications

The observational EURACAN prospective clinical registry dedicated to epithelioid hemangioendothelioma: The protocol of an international and collaborative effort on an ultra-rare entity.

Frezza Anna Maria AM Leonard Hugh H Aggerholm-Pedersen Ninna N Badalamenti Giuseppe G Baili Paolo P Baldi Giacomo G GG Bauer Sebastian S Bazzurri Serena S Benzonelli Irene I Bertuzzi Alexia A Blay Jean-Yves JY Bianchi Giuseppe G Bonfarnuzzo Simone S Bouvier Christophe C Boye Kyetil K Martin Broto Javier J Brunello Antonella A Campanacci Domenico D Casali Paolo G PG Cicala Carlo C Crotti Elisa E D'Ambrosio Lorenzo L Dei Tos Angelo Paolo AP Dieckmann Nils N Dufresne Armelle A Elston Stephanie S Ferraresi Virginia V Gabellini Stefano S Giani Claudia C Giannusa Vincenzo V Gil Sanjines Melissa M Grassani Teresa T Gronchi Alessandro A Lasalvia Paolo P Lindskog Stefan S Hindi Nadia N Ingrosso Matilde M Ivanescu Andrei A Jones Robin R Lugowska Iwona I Ketzer Julia J Mariuk-Jarema Anna A Mazzocca Alessandro A Monteleone Laura L Morosi Carlo C Napolitano Andrea A Nardozza Francesca F Neri Elisabetta E Nilsson Maria M Papakonstantinou Andri A Pasquali Sandro S Sbaraglia Marta M Scolari Federico F Szkandera Joanna J Valverde Claudia C Vincenzi Bruno B Vizzaccaro Salvatore S Zuccheri Federica F Stacchiotti Silvia S Trama Annalisa A

PloS one 20240812 8

<h4>Introduction</h4>Epithelioid hemangioendothelioma (EHE) is an ultra-rare sarcoma, marked by distinctive molecular and pathological features and with a variable clinical behavior. Its natural history is still partially understood, reliable prognostic and predictive factors are lacking and many questions are still open on the optimal management. In the context of EURACAN, a prospective registry specifically dedicated to EHE was developed and launched with the aim of providing, through high-qua ...[more]

PMID: 39133752

Similar Datasets

Project description:Epithelioid hemangioendothelioma is a low-grade malignant vascular tumor with an intermediate clinical behavior between benign hemangiomas and high-grade angiosarcomas. Pathologic or molecular factors to predict this clinical heterogeneity are not well defined. A WWTR1-CAMTA1 fusion is present in most classic epithelioid hemangioendothelioma, regardless of their clinical behavior, suggesting that additional genetic abnormalities might be responsible in driving a more aggressive biology. A small subset of cases show distinct morphology and are characterized genetically by a YAP1-TFE3 fusion. Two histologic grades have been described in classic epithelioid hemangioendothelioma of the soft tissue. However, proposed criteria do not apply to other clinical presentations and have not been assessed in the YAP1-TFE3 positive tumors. Furthermore, no previous studies have compared the survival of these two molecular subsets. In this study we investigate the clinicopathologic and molecular findings of a large cohort of 93 translocation-positive epithelioid hemangioendothelioma managed at our institution. Patient characteristics, histologic features, treatment outcomes, and genetic abnormalities were investigated and these factors were correlated with overall survival. In 18 patients (15 with WWTR1-CAMTA1 and 3 with YAP1-TFE3) Memorial Sloan Kettering-IMPACT targeted DNA sequencing was performed to identify secondary genetic alterations showing more than half of tumors had a genetic alteration beyond the disease-defining gene fusion. Patients with conventional epithelioid hemangioendothelioma with WWTR1-CAMTA1 fusion had a less favorable outcome compared with the YAP1-TFE3 subset, the 5-year overall survival being 59% versus 86%, respectively. Soft tissue epithelioid hemangioendothelioma were frequently solitary, followed an uneventful clinical course being often managed with curative surgery. Multifocality, pleural involvement, lymph node or distant metastases had a significantly worse outcome. Patients with pleural disease or lymph node metastases had an aggressive clinical course akin to high-grade sarcomas, with 22% and 30%, respectively, alive at 5 years, compared with >70% survival rate in patients lacking these two adverse factors.

Dataset Information

The observational EURACAN prospective clinical registry dedicated to epithelioid hemangioendothelioma: The protocol of an international and collaborative effort on an ultra-rare entity.

Introduction

Study design

Objectives

Methods

Results

Publications

The observational EURACAN prospective clinical registry dedicated to epithelioid hemangioendothelioma: The protocol of an international and collaborative effort on an ultra-rare entity.

Similar Datasets

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