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Dermatofibrosarcoma protuberans(DFSP)

MedGen UID:
811326
Concept ID:
C3693482
Neoplastic Process
Synonyms: DERMATOFIBROSARCOMA PROTUBERANS, SOMATIC; DFSP; Familial dermatofibrosarcoma protuberans (subtype); Giant cell fibroblastoma; Metastatic dermatofibrosarcoma protuberans (subtype)
SNOMED CT: Giant cell fibroblastoma of skin (238863004); Giant cell fibroblastoma (128742004); Giant cell fibroblastoma (238863004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): PDGFB (22q13.1)
 
Monarch Initiative: MONDO:0011934
OMIM®: 607907
Orphanet: ORPHA31112

Definition

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically presents during early or middle adult life and is most frequently located on the trunk and proximal extremities (Sandberg et al., 2003). [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermatofibrosarcoma protuberans

Professional guidelines

PubMed

Badhey AK, Tikhtman R, Tang AL
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):278-282. doi: 10.1097/MOO.0000000000000721. PMID: 33993132
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS
Lancet Oncol 2020 Jan;21(1):145-161. Epub 2019 Nov 27 doi: 10.1016/S1470-2045(19)30672-2. PMID: 31786124Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Dermatofibrosarcoma Protuberans, 2022

Recent clinical studies

Etiology

Tillman BN, Liu JC
Otolaryngol Clin North Am 2021 Apr;54(2):369-378. Epub 2021 Feb 16 doi: 10.1016/j.otc.2020.11.010. PMID: 33602520
Allen A, Ahn C, Sangüeza OP
Dermatol Clin 2019 Oct;37(4):483-488. doi: 10.1016/j.det.2019.05.006. PMID: 31466588
Romano RC, Fritchie KJ
Clin Lab Med 2017 Sep;37(3):603-631. Epub 2017 Jun 15 doi: 10.1016/j.cll.2017.05.007. PMID: 28802503
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446

Diagnosis

Vitiello GA, Lee AY, Berman RS
Surg Clin North Am 2022 Aug;102(4):657-665. doi: 10.1016/j.suc.2022.05.004. PMID: 35952694
Romano RC, Fritchie KJ
Clin Lab Med 2017 Sep;37(3):603-631. Epub 2017 Jun 15 doi: 10.1016/j.cll.2017.05.007. PMID: 28802503
Acosta AE, Vélez CS
Curr Treat Options Oncol 2017 Aug 10;18(9):56. doi: 10.1007/s11864-017-0498-5. PMID: 28795284
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446

Therapy

Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS
Lancet Oncol 2020 Jan;21(1):145-161. Epub 2019 Nov 27 doi: 10.1016/S1470-2045(19)30672-2. PMID: 31786124Free PMC Article
Allen A, Ahn C, Sangüeza OP
Dermatol Clin 2019 Oct;37(4):483-488. doi: 10.1016/j.det.2019.05.006. PMID: 31466588
Koseła-Paterczyk H, Rutkowski P
Expert Rev Anticancer Ther 2017 Dec;17(12):1107-1116. Epub 2017 Oct 13 doi: 10.1080/14737140.2017.1390431. PMID: 28988501
Acosta AE, Vélez CS
Curr Treat Options Oncol 2017 Aug 10;18(9):56. doi: 10.1007/s11864-017-0498-5. PMID: 28795284
Skubitz KM, D'Adamo DR
Mayo Clin Proc 2007 Nov;82(11):1409-32. doi: 10.4065/82.11.1409. PMID: 17976362

Prognosis

Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Bhatt MD, Nambudiri VE
Hematol Oncol Clin North Am 2019 Feb;33(1):87-101. doi: 10.1016/j.hoc.2018.08.007. PMID: 30497679
Acosta AE, Vélez CS
Curr Treat Options Oncol 2017 Aug 10;18(9):56. doi: 10.1007/s11864-017-0498-5. PMID: 28795284
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446

Clinical prediction guides

Haseli S, Mansoori B, Christensen D, Abadi A, Pooyan A, Shomal Zadeh F, Mau B, Khalili N, Murphey M, Chalian M
Radiographics 2023 Aug;43(8):e230005. doi: 10.1148/rg.230005. PMID: 37440448
Godínez-Chaparro JA, Valencia-Herrera AM, Mena-Cedillos CA, Toussaint-Caire S, Duarte-Abdala MR, Loza-Escutia O, Toledo-Bahena ME
Bol Med Hosp Infant Mex 2023;80(1):57-62. doi: 10.24875/BMHIM.21000197. PMID: 36867567
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS
Lancet Oncol 2020 Jan;21(1):145-161. Epub 2019 Nov 27 doi: 10.1016/S1470-2045(19)30672-2. PMID: 31786124Free PMC Article
Nielsen TO
Adv Anat Pathol 2006 Jul;13(4):166-73. doi: 10.1097/00125480-200607000-00003. PMID: 16858150

Recent systematic reviews

Sanabria A, Pinillos P, Chiesa-Estomba C, Guntinas-Lichius O, Kowalski LP, Mäkitie AA, Rao KN, Ferlito A
J Dermatolog Treat 2024 Dec;35(1):2295816. Epub 2023 Dec 26 doi: 10.1080/09546634.2023.2295816. PMID: 38146660
Kuhlmann C, Ehrl D, Taha S, Wachtel N, Schmid A, Bronsert P, Zeller J, Giunta RE, Eisenhardt SU, Braig D
Surgery 2023 Jun;173(6):1463-1475. Epub 2023 Apr 1 doi: 10.1016/j.surg.2023.02.026. PMID: 37012145
Henry OS, Platoff R, Cerniglia KS, Batchu S, Goodwin BJ, Sandilos G, Adams A, Hong YK
Am J Surg 2023 Feb;225(2):268-274. Epub 2022 Sep 26 doi: 10.1016/j.amjsurg.2022.09.040. PMID: 36184329
Martin ECS, Vyas KS, Batbold S, Erwin PJ, Brewer JD
Dermatol Surg 2022 May 1;48(5):479-485. Epub 2022 Mar 30 doi: 10.1097/DSS.0000000000003411. PMID: 35353755
Liang CA, Jambusaria-Pahlajani A, Karia PS, Elenitsas R, Zhang PD, Schmults CD
J Am Acad Dermatol 2014 Oct;71(4):781-6. Epub 2014 Apr 19 doi: 10.1016/j.jaad.2014.03.018. PMID: 24755121

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024
    • NCCN, 2022
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Dermatofibrosarcoma Protuberans, 2022

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