NORD gratefully acknowledges Robert G. Maki, MD, PhD, Department of Medicine, Mount Sinai School of Medicine, New York, NY, for assistance in the preparation of this report.
The symptoms of mesenchymal chondrosarcoma may vary depending upon the exact location and progression of the tumor. Most mesenchymal chondrosarcomas arise in the bones of the jaw, spine or the ribs. However, the tumor can arise almost anywhere within the body. The arms and legs are also frequent sites of tumor development, especially the main bone of the thigh (femur). Approximately one-third of cases occur outside of bone, appearing as soft tissue masses and can affect the muscle or central nervous system
The specific symptoms associated with mesenchymal chondrosarcoma may be vague and nonspecific. Many individuals may develop pain and swelling in the affected area. Such vague symptoms can be present for a long time before a diagnosis is made. If a tumor grows large enough it can compress nearby structures and cause additional symptoms. For example, a tumor that compresses the spinal cord can cause paralysis, while a mesenchymal chondrosarcoma in the eye socket (orbit) can cause pain, swelling, visual disturbances and protrusion of the eyeball (exophthalmos).
Mesenchymal chondrosarcomas are an aggressive form of cancer that can spread (metastasize) to other areas of the body, especially the lungs, liver, lymph nodes and other bones and may cause life-threatening complications.
The exact cause of mesenchymal chondrosarcoma is unknown. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer. No identifiable risk factors for the development of mesenchymal chondrosarcoma have been discovered.
In individuals with cancer, including mesenchymal chondrosarcoma, malignancies may develop due to abnormal changes in the structure and orientation of certain cells known as oncogenes or tumor suppressor genes. Oncogenes control cell growth; tumor suppressor genes control cell division and ensure that cells die at the proper time. Current research has shown that abnormalities of DNA (deoxyribonucleic acid), which is the carrier of the body’s genetic code, are the underlying basis of cellular malignant transformation. The characteristic DNA change in mesenchymal chondrosarcoma is the deletion of a part of chromosome 8 that ends up linking to DNA genes together in a new way. The genes are termed HEY1 and NCOA2. These abnormal genetic changes appear to occur spontaneously for unknown reasons. Mesenchymal chondrosarcomas are thought to arise from early, immature cartilage cells called chondroblasts. Chondroblasts eventually develop into chondrocytes, the main cell that makes up cartilage.
Mesenchymal chondrosarcoma was first described in the medical literature in 1959. It is an extremely rare form of cancer; fewer than 800 cancers have been reported in the medical literature. This tumor is most common in children and young adults (aged 10-30), but can affect individuals of any age including young children and older adults. Females are affected slightly more often than males. Mesenchymal chondrosarcoma is more likely to occur outside the bone in young adults or children and to affect bone in older adults. Mesenchymal chondrosarcomas account for approximately 5-10 percent of all cases of chondrosarcoma.
A diagnosis of mesenchymal chondrosarcoma may be difficult. Some individuals may seek attention because of pain and swelling. A diagnosis may be made based upon a thorough clinical examination, a detailed patient history and a variety of specialized tests including x-ray studies and a procedure in which a small sample of tissue is removed and studied under a microscope (biopsy). A biopsy of a tumor or mass determines what type of cancer is present by identifying the cell type that makes up the tumor. In individuals suspected of a mesenchymal chondrosarcoma an open biopsy or a needle-guided biopsy is recommended.
Specialized imaging techniques may be used to help evaluate the size, placement, and extension of the tumor and to serve as an aid for future surgical procedures, among individuals with mesenchymal chondrosarcoma. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. Because of the risk of a mesenchymal chondrosarcoma spreading the lungs, a CT scan of the lungs is often performed. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. Bone scans, tests that can detect areas of increased or decreased bone activity, may be performed to determine whether a mesenchymal chondrosarcoma has spread to affect other bones.
There are implications for future treatment even in terms of placement of a biopsy incision. As a result, treatment by a multidisciplinary group of health professionals even at the time of suspicion of a bone sarcoma his highly recommended to optimize treatment. The therapeutic management of individuals with a mesenchymal chondrosarcoma typically requires the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (pediatric or medical oncologists), specialists in the use of radiation to treat cancer (radiation oncologists), surgeons, oncology nurses, and other specialists.
Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as primary tumor location, extent of the primary tumor (stage); whether the tumor has spread to distant sites; an individual’s age and general health; and/or other elements. Decisions concerning the use of particular interventions should be made by physicians and other members of the health care team in careful consultation with the patient, based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks; patient preference; and other appropriate factors.
After a carefully placed biopsy to determine the diagnosis, the primary initial form of treatment for a mesenchymal chondrosarcoma is usually surgery or chemotherapy. Often times chemotherapy will be given first, followed by surgical removal of the entire tumor and any affected tissue. Radiation may or may not be employed in the treatment of mesenchymal chondrosarcoma, depending on how large the tumor is and where it is situated. Many medical oncologists advocate a chemotherapy treatment plan similar to that of a related bone cancer called Ewing’s sarcoma. Radiation therapy after surgery is also typically standard practice for larger tumors.
Because mesenchymal chondrosarcomas can recur even after optimal therapy, individuals should be examined routinely after surgery (follow-up care). The specifics of follow-up care are different for each person. In some cases, the return of cancer (relapse) has not occurred until many years after treatment.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
For information about clinical trials conducted in Europe, contact:
Lin PP, Patel S, editors. Bone Sarcoma. Springer, New York, NY; 2013: 125.
Frezza AM, Cesari M, Baumhoer D, et al. Mesenchymal chondrosarcoma: Prognostic factors and outcome in 113 patients. A European Musculoskeletal Oncology Society study. Eur J Cancer. 2015; 51: 374-381.
Italiano A, Mir O, Cioffi A, et al. Advanced chondrosarcomas: role of chemotherapy and survival. Ann Oncol. 2013; 24: 291-2922.
Kawaguchi S, Weiss I, Lin PP, et al. Radiation Therapy Is Associated With Fewer Recurrences in Mesenchymal Chondrosarcoma. Clin Orthop Relat Res. 2014; 472:856–864.
Dantonello TM, Int-Ween C, Leuschner I, et al. Mesenchymal chondrosarcoma of soft tissues and bone in children, adolescents and young adults. Experience of the CWS and COSS Study Groups. Cancer. 2008;112:2424-2431.
Goldberg JM, Grier H. Mesenchymal Chondrosarcoma. The Liddy Shriver Sarcoma Initiative. 2004. Available at: http://sarcomahelp.org/mesenchymal-chondrosarcoma.html Accessed May 5, 2015.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100