Shining a Light on Sarcoma: Enhancing Awareness for Effective Patient Care

Adam C. Berger, MD, FACS

Chief of Melanoma and Soft Tissue Surgical Oncology

Rutgers Cancer Institute

RWJBarnabas Health

Sarcoma, often dubbed "the forgotten cancer," encompasses a rare and heterogeneous group of malignancies originating from mesenchymal tissues, including bone, muscle, fat, and connective tissues. The American Cancer Society¹ estimates that approximately 13,590 new cases of soft tissue sarcomas will be diagnosed in 2024.

Despite its rarity, the diverse presentation of sarcoma poses significant challenges for timely diagnosis and effective treatment. To enhance awareness and understanding of sarcoma among healthcare professionals, we must focus on the epidemiology, clinical presentation, risk factors, and current advancements in treatment modalities for the disease.

Epidemiology and Pathophysiology

Sarcomas can arise from any part of the body, from the head to the toes, involving bones, muscles, tendons, cartilage, and other connective tissues. This underscores the difficulty in detecting sarcoma due to its potential to develop in various (often deeply situated) locations and its often subtle symptoms. Although sarcoma can affect individuals of all ages, certain types, such as Ewing sarcoma, predominantly occur in children and adolescents during periods of rapid growth.

Clinical Presentation

The clinical manifestations of sarcoma are contingent upon the tumor’s size, location, and aggressiveness. Often, sarcomas present as a painless lump or swelling, which may become painful if the tumor compresses adjacent nerves or muscles. Other symptoms include restricted range of motion and systemic signs such as weight loss or fatigue if the disease has progressed significantly. The most frequent sites of tumor growth include the extremities, neck, chest, shoulders, abdomen, and hips.Educating patients about the signs and symptoms of sarcoma and the importance of early medical evaluation can facilitate timely diagnosis and treatment.

Tumor microenvironment background with cancer cells, T cells, nanoparticles, molecules and blood vessels. Oncology research concept: © rataosk - stock.adobe.com

Risk Factors

Certain risk factors have been associated with an increased likelihood of developing these malignancies. The primary risk factors for sarcomas include:

• Age: Certain types of sarcoma, such as Ewing sarcoma and rhabdomyosarcoma, predominantly occur in children and adolescents, often during periods of rapid growth and development. Other types, such as liposarcomas and leiomyosarcomas, are more commonly diagnosed in adults, particularly those over the age of 50.
• Radiation exposure: Previous exposure to ionizing radiation, especially for the treatment of other cancers, is a well-documented risk factor for the development of secondary sarcomas. The risk is dose-dependent, with higher doses of radiation correlating with a greater risk.
• Genetic disorders: Individuals with Li-Fraumeni Syndrome have significantly increased risk of developing various cancers, including sarcomas, due to mutations in the TP53 gene. Survivors of hereditary retinoblastoma, caused by mutations in the RB1 gene, are at increased risk for osteosarcoma and other soft tissue sarcomas.
• Chemical exposure: Prolonged exposure to certain chemicals, such as vinyl chloride, arsenic, and dioxins, have been linked to an elevated risk of developing angiosarcoma and other soft tissue sarcomas.
• Chronic lymphedema: Lymphedema can predispose individuals to the development of angiosarcoma in the affected limb.

Understanding these risk factors is crucial for healthcare professionals in identifying individuals at higher risk and implementing appropriate surveillance and preventive strategies.

Treatment Modalities

The treatment strategy for sarcoma is highly individualized, based on the tumor’s histological subtype, location, size, and stage, as well as the patient’s overall health. Treatment options include:

• Surgery: The cornerstone of sarcoma treatment which provides complete resection with negative margins.
• Radiation therapy: Used to shrink tumors or postoperatively to eradicate residual disease and help prevent recurrence.
• Chemotherapy: Utilized for certain high-grade sarcomas and metastatic disease.
• Targeted therapy and immunotherapy: Emerging modalities, particularly for cases resistant to conventional treatments.

Advancements in Treatment and Research

It is important to seek specialized care for sarcoma due to its complexity and rarity. At Rutgers Cancer Institute and RWJBarnabas Health, ongoing precision medicine initiatives are tailored to individual patient profiles, focusing on personalized treatment strategies for metastatic sarcoma and improving early detection methods. Clinical trials at Rutgers Cancer Institute² are exploring innovative approaches, including targeted therapies and immunotherapies. These trials aim to enhance the efficacy of treatments and expand the therapeutic arsenal available to combat this diverse group of cancers.

Sarcoma, although rare, demands heightened awareness and a multidisciplinary approach to improve outcomes. By understanding the risk factors, clinical presentation, and evolving treatment options, healthcare professionals can play a crucial role in early detection and management. Raising awareness and fostering research are essential to ensuring sarcoma no longer remains the "forgotten cancer."

REFERENCES:

1. Soft tissue sarcoma. American Cancer Society. Accessed July 17, 2024. https://tinyurl.com/2s4mckrj

2. Clinical trials overview. Rutgers Cancer Institute. Accessed July 17, 2024. https://www.cinj.org/clinical-trials/clinical-trials-overview