Alveolar Soft Part Sarcoma

Alveolar Soft Part Sarcoma

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Alveolar Soft Part Sarcoma is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • ASPS
  • Alveolar sarcoma of soft parts
  • ASP sarcoma

Disorder Subdivisions

  • None

General Discussion

Alveolar soft part sarcoma (ASPS) is a rare sarcoma (malignant tumor of connective tissue) of an unclear cause. It is among the least common sarcomas, representing 0.2-1 percent of large studies of soft tissue sarcomas. Since there are approximately 8000 soft-tissue sarcomas per year that arise in the United States, this means there are on the order of 15 to 80 cases nationwide each year. It is characterized by a painless mass in the leg or buttock, with a particular affinity to travel to the lungs as multiple nodules, presumably while the sarcoma itself is still small. ASPS, is very rare, because it involves a specific breaking and joining event between two chromosomes, called an "unbalanced translocation". This finding is observed in essentially all ASPS examined so far. This finding cannot be passed on to children, however, as the finding occurs only in the tumor, not in the normal cells, in addition, there are no families in which multiple family members have ASPS.



Treatment is with surgery and radiation for the primary place where the sarcoma arises. For disease that travels to the lungs, sometimes surgery is possible to remove nodules, but more typically chemotherapy is the only option for treatment. This tumor tends to be resistant to standard chemotherapy, so new treatments involving new chemotherapy drugs are also a reasonable option for treatment. Interferon-alfa showed benefit in one person from Japan with ASPS. There is little other data on possible helpful chemotherapy for this tumor.

Symptoms

The typical clinical findings are of a painless thigh or buttock mass, although ASPS can occur in the trunk, arm or elsewhere. Sometimes these masses cause pain by stretching of the surrounding tissues, and cause limping or other difficulty with movement.



In its advanced stages, when nodules are found in the lung, the tumor nodules can cause cough, sharp chest pain, or fluid collections around the lungs (pleural effusions). Some people will develop headaches associated with metastases to the brain, or a fracture from metastases to the bones. The involvement of the lungs or brain by ASPS is a potentially life-threatening complication, but people can live for several years despite lung nodules, since the nodules grow only very slowly for most people. In the case of brain metastases, surgery and radiation are the major ways to control the tumor and the side effects they cause in the brain.

Causes

There is no exposure or infection that is known to predispose to ASPS. It is known that two chromosomes break and rejoin is a certain way (unbalanced translocation) and bring together two genes, normally separated on chromosomes X (the sex chromosome) and 17. These genes are called ASPL on chromosome 17 and TFE3 on chromosome X. Interestingly, the exact same chromosomal changes are found in a rare form of kidney cancer, papillary renal cell carcinoma. This is a cancer of an entirely different nature. The finding of the same chromosomal breaking and rejoining in two very different forms of cancer is unprecedented in medicine, and will likely point out more about the nature of these two very rare cancers.

Affected Populations

ASPS, tends to affect younger people, between 15 and 35 years of age. Women outnumber men, especially under age 25. There appears to be no link of this tumor to a particular ethnicity.

Standard Therapies

Biopsy is the fastest way to come to a diagnosis of soft-tissue sarcomas. There are more than 50 different types of sarcomas, of which ASPS is only one rare subtype. Often times, a core needle biopsy of the leg mass is enough to make the diagnosis. If a core needle biopsy is not diagnostic, then an incisional biopsy that obtains more tissue will make the diagnosis.



Typically, people will get CT (computed tomography) scans or MRI (magnetic resonance imaging) scans of the primary tumor site to determine if the mass is removable. A CT scan of the chest or even a simple chest X-ray will determine if there is disease in the lungs. Bone scans can sometimes show if tumors have moved to bone, even with normal findings on x-rays. ASPS, generally does not move to lymph nodes, instead preferring to travel via the blood to get to the lungs or other parts of the body.



Treatment

Treatment for ASPS involves teams of doctors. For local care of the tumor, surgery and radiation are the key elements of treatment. If the tumor has traveled, chemotherapy or similar treatments that go all over the body are used.



Surgery is the only way to cure ASPS. It can only cure ASPS if the tumor is localized and has not moved elsewhere in the body, such as the lungs. It is rare for amputation to be used as a surgical technique to attempt to cure sarcomas (it occurs less than 5% of the time at most major US sarcoma centers). Typical surgery is called "limb-sparing", trying to get around the tumor completely, without having to remove so much tissue that the limb (or other site) does not work well anymore.



Often, radiation is used before or after surgery to minimize the chance of the tumor coming back in the place where it started. This can be achieved by shining a radiation beam at the tumor (external beam radiation, or some variant of that) or can be achieved by placing temporary catheters (tubes) in the area where the tumor was resected. These tubes stick out of the skin and can have radiation seeds placed in them to deliver a high dose of radiation to the area of the tumor in a very specific manner. This technique is called brachytherapy. Either external beam radiation or brachytherapy are used, typically when the tumor is 2 inches in size or greater. For smaller tumors, it is not clear that radiation helps decrease the risk of the tumor coming back.



Without evidence of disease in the lungs, or other spread of ASPS beyond where it started, chemotherapy is not recommended. Chemotherapy for ASPS after surgery (and radiation for some people) will not decrease the risk of the tumor from coming back, like it can for breast cancer or colon cancer.



If the tumor is advanced and has traveled elsewhere (metastasized) or recurred, chemotherapy is the major option for therapy. Standard drugs for sarcoma include doxorubicin and ifosfamide, but do not work particularly well for ASPS. Few people have shrinking of tumor, and chemotherapy will not be curative if the tumor has spread beyond the tumor's starting place. As you might expect, the larger the tumor is at the time of diagnosis, the higher the risk of the tumor coming back elsewhere in the body.



Thus, since regular chemotherapy does not often work well, new treatments, known as clinical trials or research studies are appropriate for people with ASPS that has gone elsewhere in the body. There is a report of one patient responding to interferon-alfa. It is unclear why this one person has responded to such therapy, but it provides a hint that new drugs may be more successful than old ones in treating this tumor.

Investigational Therapies

Large sarcoma specialty centers such as Memorial Hospital in New York, MD Anderson in Houston, and Dana-Farber in Boston, and the National Cancer Institute in Bethesda, MD are all working on new therapies for soft tissue sarcomas, of which ASPS is one of many that such centers treat. These include drugs such as: angiogenesis inhibitors to block blood vessel growth into tumors, new chemotherapy drugs, biological therapies.



Since the genes involved in this rare disease are now known, new treatments such as vaccines can also be proposed, in an attempt to teach the immune system to attack the exact protein that causes ASPS. However, such an immune response may not exist or not be of sufficient strength to recognize the cancer as it is, since people develop metastases from this tumor despite an intact immune system. Similarly, once the biochemistry of the genes involved in ASPS is known, it may point out an Achille's heel that doctors may be able to exploit for treatment of this rare condition. It is hoped that this new knowledge will lead to more effective treatments of ASPS.



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:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOK

DeVita, VT, Hellman, S, and Rosenberg, SA, eds. Cancer: Principles and Practice of Oncology, 6th edition. Philadelphia: Lippincott, Williams, and Wilkins. 2000, ppg. 1841-1891.



Weiss SW, Goldblum JR. Enzinger and Weiss's soft tissue tumors, 4th edition. St. Louis: Mosby. 2001, ppg. 1509-1521.



ARTICLES

The der(17)t(X.17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PHB, Mertens F, Mandahl N, van den Berghe H, Sciot R, dal Cin P, Bridge J. Oncogene 2001; 20: 48-57.



Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution. Portera CA Jr, Ho V, Patel SR, Hunt KK, Feig BW, Respondek PM, Yasko AW, Benjamin RS, Pollock RE, Pisters PW.

Cancer 2001; 91: 585-591. Medline 21097518



Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group. Casanova M, Ferrari A, Bisogno G, Cecchetto G, Basso E, De Bernardi B, Indolfi P, Fossati Bellani F, Carli M.

Ann Oncol 2000; 11: 1445-1449. Medline 21022094



Alveolar soft-part sarcoma. A clinico-pathologic study of half a century. Lieberman PH, Brennan MF, Kimmel M, Erlandson RA, Garin-Chesa P, Flehinger BY. Cancer 1989; 63: 1-13. Medline 89089484



Huret JL . Alveolar soft part sarcoma. Atlas Genet Cytogenet Oncol Haematol. August 2001. http://www.infobiogen.fr/services/chromcancer/Tumors/AlveolSoftPartSID5125.html



FROM THE INTERNET

The Alliance against ASP sarcoma:

http://www.alveolarspsarcoma.net/



Memorial Sloan Kettering Cancer Center

http://www.mskcc.org/mskcc/html/435.cfm



Dana Farber Cancer Institute

http://www.dfci.harvard.edu/pat/adult/treatment/sarcoma/



MD Anderson Cancer Center

http://www.mdanderson.org/Care_Centers/Sarcoma/Index.cfm



Sarcoma.net

http://www.sarcoma.net/



Kristen Ann Carr Fund Sarcoma Forum

http://www.sarcoma.com/



National Cancer Institute Clinical Trials web site (ClinicalTrials.gov):

http://clinicaltrials.gov/ct/gui/c/r



Association of Cancer Online Resources:

http://www.acor.org/

Resources

American Cancer Society, Inc.

250 Williams NW St

Ste 6000

Atlanta, GA 30303

USA

Tel: (404)320-3333

Tel: (800)227-2345

TDD: (866)228-4327

Internet: http://www.cancer.org



National Cancer Institute

6116 Executive Blvd Suite 300

Bethesda, MD 20892-8322

USA

Tel: (301)435-3848

Tel: (800)422-6237

TDD: (800)332-8615

Email: cancergovstaff@mail.nih.gov

Internet: http://www.cancer.gov



National Coalition for Cancer Survivorship

1010 Wayne Avenue

7th Floor

Silver Spring, MD 20910

Tel: (301)650-9127

Fax: (301)565-9670

Tel: (888)650-9127

Email: info@canceradvocacy.org

Internet: http://www.canceradvocacy.org/



Sarcoma Foundation of America

9899 Main Street Ste 204

Damascus, MD 20872

USA

Tel: (301)253-8687

Fax: (301)253-8690

Email: info@curesarcoma.org

Internet: http://www.curesarcoma.org



Sarcoma Alliance

775 E. Blithedale #334

Mill Valley, CA 94941

USA

Tel: (415)381-7236

Fax: (415)381-7235

Email: info@sarcomaalliance.org

Internet: http://www.sarcomaalliance.org



Rare Cancer Alliance

1649 North Pacana Way

Green Valley, AZ 85614

USA

Internet: http://www.rare-cancer.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Cure Alveolar Soft Part Sarcoma International

260 Tappan St.

Brookline, MA 02445

Tel: (617)731-1143

Email: landesmany@yahoo.com

Internet: http://cureasps.org/



Friends of Cancer Research

1800 M Street NW

Suite 1050 South

Washington, DC 22202

Tel: (202)944-6700

Email: info@focr.org

Internet: http://www.focr.org



Cancer.Net

American Society of Clinical Oncology

2318 Mill Road Suite 800

Alexandria, VA 22314

Tel: (571)483-1780

Fax: (571)366-9537

Tel: (888)651-3038

Email: contactus@cancer.net

Internet: http://www.cancer.net/



Cancer Support Community

1050 17th St NW Suite 500

Washington, DC 20036

Tel: (202)659-9709

Fax: (202)974-7999

Tel: (888)793-9355

Internet: http://www.cancersupportcommunity.org/



Lance Armstrong Foundation

2201 E. Sixth Street

Austin, TX 78702

Tel: (512)236-8820

Fax: (512)236-8482

Tel: (877)236-8820

Email: media@livestrong.org

Internet: http://www.livestrong.org



BeatSarcoma

76 Ellsworth Street

San Francisco, CA 94110

Tel: (415)826-0474

Email: info@beatsarcoma.org

Internet: http://www.beatsarcoma.org/



Northwest Sarcoma Foundation

P.O. Box 91460

Portland, OR 97291

Tel: (503)954-5740

Email: melissa@nwsarcoma.org

Internet: http://www.nwsarcoma.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.