Epithelioid Sarcoma—From Genetics to Clinical Practice

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.

Epithelioid sarcoma of the parapharyngeal space: A case report

“…2,27 Therefore, radical surgery and perioperative radiotherapy or chemotherapy are still the treatment standards for ES patients. 3 Radiotherapy is rarely used clinically and its application in ES treatment is still controversial. The potential benefit of radiation therapy alone or combined with chemotherapy is not well defined.…”

“…The most common localization is in the extremities, especially the hands or forearms, followed by the knee joints, lower limbs, buttocks, and feet. 3 While proximal type is more common in the middle-aged and elderly population with a median age of 40 years when diagnosed. Proximal subtype developed mostly in the pelvis, genitals, and perineum.…”

“… 2 , 27 Therefore, radical surgery and perioperative radiotherapy or chemotherapy are still the treatment standards for ES patients. 3 …”

“… 2 It is typically divided into two distinct types, the distal type and the proximal type. 3 The distal type usually occurs in the distal extremities of young patients. It usually manifests as a single painless and slow-growing firm nodule located in the dermis, subcutaneous tissue, or deep soft tissue.…”

Bone and Soft Tissue Tumors: New Treatment Approaches

“…These results suggest that these miRNAs are candidate targets for the development of new therapeutic strategies for the treatment of osteosarcoma. Reviews by Czarnecka et al have comprehensively discussed the gene mutations, molecular biology, therapeutic targets, and recent clinical trials in osteosarcoma and epithelioid sarcoma [ 5 , 6 ]. These sarcomas are known to have a high rate of metastasis and recurrence, and clinical outcomes of patients with metastatic lesions are unsatisfactory.…”