Epithelioid Sarcoma-From Genetics to Clinical Practice.

Anna M. Czarnecka,Michal Kostrzanowski,Piotr Rutkowski,Pawel Sobczuk,Marzanna Chojnacka,Mateusz Spalek,Anna Szumera-Cieckiewicz

doi:10.3390/cancers12082112

Abstract

Epithelioid sarcoma is a mesenchymal soft tissue sarcoma often arising in the extremities, usually in young adults with a pick of incidence at 35 years of age. Epithelioid sarcoma (ES) is characterized by the loss of SMARCB1/INI1 (integrase interactor 1) or other proteins of the SWI/SNF complex. Two distinct types, proximal and distal, with varying biology and treatment outcomes, are distinguished. ES is known for aggressive behavior, including a high recurrence rate and regional lymph node metastases. An optimal long-term management strategy is still to be defined. The best treatment of localized ES is wide surgical resection. Neo-adjuvant or adjuvant radiotherapy may be recommended, as it reduces the local recurrence rate. Sentinel lymph node biopsy should be considered in ES patients. Patients with metastatic ES have a poor prognosis with an expected median overall survival of about a year. Doxorubicin-based regimens are recommended for advanced ES. Tazemetostat, an EZH2 methyltransferase, has shown promising results in ES patients. Novel therapies, including immunotherapy, are still needed.

Highlights

Epithelioid sarcoma (ES) is a rare, slow-growing neoplasm that was first well-characterized byF.M
Loss of integrase interactor 1 (INI1) function is the most common alteration found in ES, occurring in nearly 90% of cases [37]
The treatment of choice of ES is a radical excision with microscopically radical margins and perioperative radiotherapy after careful assessment in a multidisciplinary team

Summary

Introduction

Epithelioid sarcoma (ES) is a rare, slow-growing neoplasm that was first well-characterized by. Distal subtype occurs mostly in young adults, at the time of diagnosis [6,8]. ES is very unlikely to occur in children; a series of cases were while proximal is more common in a slightly withoften a median of 40 with yearsratio at theoftime reported, as described below [9,10,11]. Is reported some patients, mainly if tumors localize in proximity necrosis, and ulcerations. Pain isbyreported by some patients, mainly if tumors localize to in joints. At the time of diagnosis, tumors are usually small with a diameter granulomatous lesions or other benign conditions [21]. 20% of patients present with distant metastases already at the primary diagnosis [27]

Pathology

Epithelioid

Genetics and Molecular Biology

Surgical Treatment of Localized Disease

Lymphadenectomy

Radiotherapy of the Primary Tumor

Radiotherapy of Recurrent Disease

Neoadjuvant and Adjuvant Therapy

Systemic Therapy in Advanced Disease

ES in Children

50.4 Gy preoperatively and after

Prognosis