Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Dermatofibrosarcoma protuberans

Reviewed September 2011

What is dermatofibrosarcoma protuberans?

Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.

In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. The tumor typically grows slowly and can become a raised nodule. Occasionally, the tumor begins as a flat or depressed patch of skin (plaque). Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck. Affected individuals usually first show signs of this condition in their thirties, but the age at which a tumor appears varies widely.

In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize).

There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. Giant cell fibroblastoma, which is sometimes referred to as juvenile dermatofibrosarcoma protuberans because it typically affects children and adolescents, is characterized by giant cells in the tumor.

Rarely, the tumors involved in the different types of dermatofibrosarcoma protuberans can have regions that look similar to fibrosarcoma, a more aggressive type of soft tissue sarcoma. In these cases, the condition is called fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than tumors in the other types of dermatofibrosarcoma protuberans.

How common is dermatofibrosarcoma protuberans?

Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year.

What are the genetic changes related to dermatofibrosarcoma protuberans?

Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. The translocation is found on one or more extra chromosomes that can be either the normal linear shape or circular. When circular, the extra chromosomes are known as supernumerary ring chromosomes. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. Other genes from chromosomes 17 and 22 can be found on the extra chromosomes, but the role these genes play in development of the condition is unclear. The translocation is acquired during a person's lifetime and the chromosomes containing the translocation are present only in the tumor cells. This type of genetic change is called a somatic mutation.

In normal cells, the COL1A1 gene provides instructions for making part of a large molecule called type I collagen, which strengthens and supports many tissues in the body. The PDGFB gene provides instructions for making one version (isoform) of the platelet derived growth factor (PDGF) protein. By attaching to its receptor, the active PDGFB protein stimulates many cellular processes, including cell growth and division (proliferation) and maturation (differentiation).

The abnormally fused COL1A1-PDGFB gene provides instructions for making an abnormal combined (fusion) protein that researchers believe ultimately functions like the PDGFB protein. The gene fusion leads to the production of an excessive amount of protein that functions like the PDGFB protein. In excess, this fusion protein stimulates cells to proliferate and differentiate abnormally, leading to the tumor formation seen in dermatofibrosarcoma protuberans.

The COL1A1-PDGFB fusion gene is found in more than 90 percent of dermatofibrosarcoma protuberans cases. In the remaining cases, changes in other genes may be associated with this condition. These genes have not been identified.

Related Chromosome(s)

Changes involving these chromosomes are associated with dermatofibrosarcoma protuberans.

  • chromosome 17
  • chromosome 22

Related Gene(s)

Changes in these genes are associated with dermatofibrosarcoma protuberans.

  • COL1A1
  • PDGFB

Can dermatofibrosarcoma protuberans be inherited?

Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body's cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited.

Where can I find information about diagnosis or management of dermatofibrosarcoma protuberans?

These resources address the diagnosis or management of dermatofibrosarcoma protuberans and may include treatment providers.

  • American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? (http://www.cancer.org/cancer/sarcoma-adultsofttissuecancer/detailedguide/sarcoma-adult-soft-tissue-cancer-diagnosis)
  • American Cancer Society: Treatment of Soft Tissue Sarcomas (http://www.cancer.org/cancer/sarcoma-adultsofttissuecancer/detailedguide/sarcoma-adult-soft-tissue-cancer-treating-by-stage)
  • Genetic Testing Registry: Dermatofibrosarcoma protuberans (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0392784)
  • National Cancer Institute: General Information about Adult Soft Tissue Sarcoma (http://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/patient)
  • National Cancer Institute: Targeted Cancer Therapies (http://www.cancer.gov/cancertopics/factsheet/Therapy/targeted)

You might also find information on the diagnosis or management of dermatofibrosarcoma protuberans in Educational resources (http://www.ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about dermatofibrosarcoma protuberans?

You may find the following resources about dermatofibrosarcoma protuberans helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for dermatofibrosarcoma protuberans?

  • Darier-Ferrand tumor
  • Darier-Hoffmann tumor
  • dermatofibrosarcoma
  • DFSP

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about dermatofibrosarcoma protuberans?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding dermatofibrosarcoma protuberans?

cancer ; cell ; chromosome ; collagen ; connective tissue ; diameter ; differentiation ; fusion gene ; gene ; giant cell ; growth factor ; inherited ; juvenile ; melanin ; metastasize ; molecule ; mutation ; new mutation ; plaque ; proliferate ; proliferation ; protein ; rearrangement ; receptor ; ring chromosomes ; sarcoma ; soft tissue ; somatic mutation ; tissue ; translocation ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, Pierotti MA. Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. Oncogene. 1998 Sep 10;17(10):1313-9. (http://www.ncbi.nlm.nih.gov/pubmed/9771975?dopt=Abstract)
  • Heldin CH, Ostman A, Rönnstrand L. Signal transduction via platelet-derived growth factor receptors. Biochim Biophys Acta. 1998 Aug 19;1378(1):F79-113. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9739761?dopt=Abstract)
  • Kampshoff JL, Cogbill TH. Unusual skin tumors: Merkel cell carcinoma, eccrine carcinoma, glomus tumors, and dermatofibrosarcoma protuberans. Surg Clin North Am. 2009 Jun;89(3):727-38. doi: 10.1016/j.suc.2009.02.005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19465208?dopt=Abstract)
  • Mendenhall WM, Zlotecki RA, Scarborough MT. Dermatofibrosarcoma protuberans. Cancer. 2004 Dec 1;101(11):2503-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15503305?dopt=Abstract)
  • Naeem R, Lux ML, Huang SF, Naber SP, Corson JM, Fletcher JA. Ring chromosomes in dermatofibrosarcoma protuberans are composed of interspersed sequences from chromosomes 17 and 22. Am J Pathol. 1995 Dec;147(6):1553-8. (http://www.ncbi.nlm.nih.gov/pubmed/7495279?dopt=Abstract)
  • Pedeutour F, Simon MP, Minoletti F, Sozzi G, Pierotti MA, Hecht F, Turc-Carel C. Ring 22 chromosomes in dermatofibrosarcoma protuberans are low-level amplifiers of chromosome 17 and 22 sequences. Cancer Res. 1995 Jun 1;55(11):2400-3. (http://www.ncbi.nlm.nih.gov/pubmed/7757993?dopt=Abstract)
  • Sandberg AA, Bridge JA. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. Dermatofibrosarcoma protuberans and giant cell fibroblastoma. Cancer Genet Cytogenet. 2003 Jan 1;140(1):1-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12550751?dopt=Abstract)
  • Shimizu A, O'Brien KP, Sjöblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 1999 Aug 1;59(15):3719-23. (http://www.ncbi.nlm.nih.gov/pubmed/10446987?dopt=Abstract)
  • Simon MP, Navarro M, Roux D, Pouysségur J. Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). Oncogene. 2001 May 24;20(23):2965-75. (http://www.ncbi.nlm.nih.gov/pubmed/11420709?dopt=Abstract)
  • Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet. 1997 Jan;15(1):95-8. (http://www.ncbi.nlm.nih.gov/pubmed/8988177?dopt=Abstract)
  • Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. 2003 May;37(1):1-19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12661001?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2011
Published: September 15, 2014