Dermatofibrosarcoma protuberans, fibrosarcomatous

Dermatofibrosarcoma protuberans, fibrosarcomatous
Other namesFibrosarcomatous dermatofibrosarcoma protuberans
SpecialtyDermatology, Oncology, Pathology, Surgical oncology
SymptomsPainless mass in the dermis
ComplicationsMultiple recurrences and metastases
Usual onsetAdults 30-59 years/old
CausesFormation of a COL1A1-PDGFB fusion gene
TreatmentSurgical excision, radiotherapy, protein kinase inhibitors
PrognosisGuarded
FrequencyRare
DeathsUncommon

Dermatofibrosarcoma protuberans, fibrosarcomatous (DFSP-FS), also termed fibrosarcomatous dermatofibrosarcoma protuberans, is a rare type of tumor located in the dermis (i.e. layer of the skin below the epidermis).[1] DFSP-FS tumors have been viewed as: 1) a more aggressive form of the dermatofibrosarcoma protuberans (DFSP) tumors because they have areas that resemble and tend to behave like malignant fibrosarcomas[2] or 2) as a distinctly different tumor than DFSP.[3] DFSP-FS tumors are related to DFSP.[4] For example, surgically removed DFSP tumors often recur with newly developed fibrobosarcoma-like areas.[5] Nonetheless, the World Health Organization (WHO), 2020, classified DFSP and DFSP-FS as different tumors with DFSP being in the category of benign and DFSP-FS in the category of rarely metastasizing fibroblastic and myofibroblastic tumors.[6] This article follows the WHO classification: the 5-15% of DFSP tumors that have any areas of fibrosarcomatous microscopic histopathology[3] are here considered DFSP-FS rather than DFSP tumors.

DFSP tumors typically consist of bland-appearing, slowly proliferating, spindle-shaped cells arranged in a monotonous cartwheel or whorled pattern. DFSP-FS tumors consist of less bland-appearing spindle-shaped cells that are arranged in fascicular (i.e. bundled, smooth muscle-like) or herringbone-like patterns, have large, vesicular, misshaped nuclei, and are rapidly proliferating; these DFSP-FS areas are typically but not always admixed with DFSP areas.[7] Various studies find that DFSP-FS tumors have higher rates of recurrence after surgical removal than DFSP tumors and may metastasize (i.e. spread to distant tissues).[2][8][9][10]

The tumor cells in DFSP and DFSP-FS harbor one or more fusion gene mutations, i.e. mutations that merge two previously independent genes. The COL1A1-PDGFB fusion gene is the most common fusion gene found in both tumor types.[11][12] However, DFSP-FS tumor cells have higher copy numbers of the COL1A1-PDGFB fusion gene than do DFSP tumors.[7][12]

Localized DFSP-FS tumors are typically treated by wide surgical excision in order to reduce the high recurrence rates developing when these tumors' cells are not completely removed. Adjuvant therapy (i.e. therapy given in addition to the primary or initial therapy in order to maximize its effectiveness) consisting of radiation therapy and/or drugs (i.e. protein kinase inhibitors that block the effects of the COL1A1-PDGFB fusion gene) may be added to the treatment regimen in cases where a tumor cannot be fully removed and in virtually all cases where the tumor has metastasized.[8]

  1. ^ Baranov E, Hornick JL (March 2020). "Soft Tissue Special Issue: Fibroblastic and Myofibroblastic Neoplasms of the Head and Neck". Head and Neck Pathology. 14 (1): 43–58. doi:10.1007/s12105-019-01104-3. PMC 7021862. PMID 31950474.
  2. ^ a b Verma H, Sehgal K, Panchal KB, Chakraborty S, Biswas B, Mukherjee G, Midha D, Biswas G (March 2020). "Presentation and Management of Dermatofibrosarcoma Protuberans: a Single Center Protocol". Indian Journal of Surgical Oncology. 11 (1): 35–40. doi:10.1007/s13193-019-01007-3. PMC 7064730. PMID 32205967.
  3. ^ a b Liang CA, Jambusaria-Pahlajani A, Karia PS, Elenitsas R, Zhang PD, Schmults CD (October 2014). "A systematic review of outcome data for dermatofibrosarcoma protuberans with and without fibrosarcomatous change". Journal of the American Academy of Dermatology. 71 (4): 781–6. doi:10.1016/j.jaad.2014.03.018. PMID 24755121.
  4. ^ Braswell DS, Ayoubi N, Motaparthi K, Walker A (April 2020). "Dermatofibrosarcoma protuberans with features of giant cell fibroblastoma in an adult". Journal of Cutaneous Pathology. 47 (4): 317–320. doi:10.1111/cup.13601. PMID 32163628. S2CID 212691248.
  5. ^ Jha P, Moosavi C, Fanburg-Smith JC (April 2007). "Giant cell fibroblastoma: an update and addition of 86 new cases from the Armed Forces Institute of Pathology, in honor of Dr. Franz M. Enzinger". Annals of Diagnostic Pathology. 11 (2): 81–8. doi:10.1016/j.anndiagpath.2006.12.010. PMID 17349565.
  6. ^ Sbaraglia M, Bellan E, Dei Tos AP (April 2021). "The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives". Pathologica. 113 (2): 70–84. doi:10.32074/1591-951X-213. PMC 8167394. PMID 33179614.
  7. ^ a b Mentzel T, Beham A, Katenkamp D, Dei Tos AP, Fletcher CD (May 1998). "Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance". The American Journal of Surgical Pathology. 22 (5): 576–87. doi:10.1097/00000478-199805000-00009. PMID 9591728.
  8. ^ a b Hao X, Billings SD, Wu F, Stultz TW, Procop GW, Mirkin G, Vidimos AT (June 2020). "Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment". Journal of Clinical Medicine. 9 (6): 1752. doi:10.3390/jcm9061752. PMC 7355835. PMID 32516921.
  9. ^ Li Y, Liang J, Xu X, Jiang X, Wang C, Chen S, Xiang B, Ji Y (January 2021). "Clinicopathological features of fibrosarcomatous dermatofibrosarcoma protuberans and the construction of a back-propagation neural network recognition model". Orphanet Journal of Rare Diseases. 16 (1): 48. doi:10.1186/s13023-021-01698-4. PMC 7836157. PMID 33499900.
  10. ^ Qu Q, Xuan W, Fan GH (January 2015). "Roles of resolvins in the resolution of acute inflammation". Cell Biology International. 39 (1): 3–22. doi:10.1002/cbin.10345. PMID 25052386. S2CID 10160642.
  11. ^ Chen Y, Shi YZ, Feng XH, Wang XT, He XL, Zhao M (July 2021). "Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report". Diagnostic Pathology. 16 (1): 63. doi:10.1186/s13000-021-01123-1. PMC 8276425. PMID 34256767.
  12. ^ a b Abbott JJ, Erickson-Johnson M, Wang X, Nascimento AG, Oliveira AM (November 2006). "Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans". Modern Pathology. 19 (11): 1512–8. doi:10.1038/modpathol.3800695. PMID 16980946. S2CID 276608.