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Dermatofibrosarcoma Protuberans

Updated : August 17, 2023





Background

An uncommon soft tissue tumor called DFSP (dermatofibrosarcoma protuberans) affects the subcutaneous fat, dermis, and, in extremely rare circumstances, fascia and muscle. On the trunk of young people, the tumor often appears as a hard plaque that is slowly expanding. It is unclear what causes dermatofibrosarcoma protuberans.

Studies suggest that a chromosomal rearrangement that produces the fusion protein COL1A1-PDGFB, which stimulates the overproduction of PDGF (platelet-derived growth factors), enhances tumor growth. Skin biopsies are used to make diagnoses. DFSP is a type of intermediate-grade cancer with a high probability of local recurrence but little chance of metastasis.

The most effective method of treatment for DFSP is MMS (Mohs micrographic surgery), a medical procedure that enables thorough tissue conservation and margin evaluation. Alternately, the broad local incision can be used to treat DFSP. Imatinib mesylate, a chemotherapy drug, is recently FDA-approved for treating people with DFSP that are inoperable, metastatic, or recurring.

Epidemiology

A rare tumor, DFSP with an annual occurrence of 0.8 to 4.5 instances per million people. It makes up 18 percent of the total of all cutaneous soft tissue sarcoma and 1 percent to 6 percent of all soft tissue sarcoma.

Below five percent and five percent to fifteen percent of all instances of dermatofibrosarcoma protuberans are respectively accounted for by the pigmented variety, also described as a Bednar tumor, and also the fibrosarcomatous variety.

Dermatofibrosarcoma protuberans have been recorded in all age categories, such as congenital manifestations. However, it most frequently affects adults in their third to fifth years of life.

There is some debate among studies as to whether there is a modest masculine or gender predominance. DFSP may grow more quickly during gestation. Black persons get DFSP most commonly, especially Bednar tumors.

Anatomy

Pathophysiology

DFSP has the chromosomal rearrangement t(17;22)(q22;q13) among chromosomes 17 and 22, which is believed to be important in the etiology of the tumor. PDGFB (Platelet-derived growth factor-beta polypeptide gene) and COL1A1 (collagen type 1A1) gene union are caused by chromosomal rearrangement.

The gene translocation leads to the activation of PDGFB, which causes an excess of PDGF to be produced as well as ongoing autocrine stimulation of PDGFRb (platelet-derived growth factor receptor-beta, cell differentiation, and promoting tumor development.

About 90 percent of DFSPs have this chromosomal translocation. A distinct chromosomal translocation involving PDGFB on chromosome 22 has been shown in situations without the COL1A1/PDGFB translocation.

Etiology

The epidermal stem cell, or an undeveloped mesenchymal cell with neurologic, muscular, and fibroblastic traits, is assumed to be the source of mesenchymal disease.

Although there is no known cause of DFSP, one potential risk is damage to the skin in the area affected. There have also been reports of occurrences inside tattoos and existing scars.

Genetics

Prognostic Factors

Dermatofibrosarcoma protuberans have an excellent prognosis overall, with a 10-year chance of survival of 99.1 percent. Given the rarity of metastasis, morbidity from local recurrence is a more frequent problem. A risk factor for local recurrence is age over fifty.

After diagnosis, patients with metastatic illness typically live for roughly two years. Increased mortality percentages are associated with black race, high mitotic activity, enhanced cellularity, male gender, and position on the limb, head, and neck.

Clinical History

Physical Examination

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

 

imatinib

100 - mg

Orally 

once a day

; continue the treatment until there is no progressive disease or unacceptable toxicity occurs



 
 

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK513305/

Dermatofibrosarcoma Protuberans

Updated : August 17, 2023




An uncommon soft tissue tumor called DFSP (dermatofibrosarcoma protuberans) affects the subcutaneous fat, dermis, and, in extremely rare circumstances, fascia and muscle. On the trunk of young people, the tumor often appears as a hard plaque that is slowly expanding. It is unclear what causes dermatofibrosarcoma protuberans.

Studies suggest that a chromosomal rearrangement that produces the fusion protein COL1A1-PDGFB, which stimulates the overproduction of PDGF (platelet-derived growth factors), enhances tumor growth. Skin biopsies are used to make diagnoses. DFSP is a type of intermediate-grade cancer with a high probability of local recurrence but little chance of metastasis.

The most effective method of treatment for DFSP is MMS (Mohs micrographic surgery), a medical procedure that enables thorough tissue conservation and margin evaluation. Alternately, the broad local incision can be used to treat DFSP. Imatinib mesylate, a chemotherapy drug, is recently FDA-approved for treating people with DFSP that are inoperable, metastatic, or recurring.

A rare tumor, DFSP with an annual occurrence of 0.8 to 4.5 instances per million people. It makes up 18 percent of the total of all cutaneous soft tissue sarcoma and 1 percent to 6 percent of all soft tissue sarcoma.

Below five percent and five percent to fifteen percent of all instances of dermatofibrosarcoma protuberans are respectively accounted for by the pigmented variety, also described as a Bednar tumor, and also the fibrosarcomatous variety.

Dermatofibrosarcoma protuberans have been recorded in all age categories, such as congenital manifestations. However, it most frequently affects adults in their third to fifth years of life.

There is some debate among studies as to whether there is a modest masculine or gender predominance. DFSP may grow more quickly during gestation. Black persons get DFSP most commonly, especially Bednar tumors.

DFSP has the chromosomal rearrangement t(17;22)(q22;q13) among chromosomes 17 and 22, which is believed to be important in the etiology of the tumor. PDGFB (Platelet-derived growth factor-beta polypeptide gene) and COL1A1 (collagen type 1A1) gene union are caused by chromosomal rearrangement.

The gene translocation leads to the activation of PDGFB, which causes an excess of PDGF to be produced as well as ongoing autocrine stimulation of PDGFRb (platelet-derived growth factor receptor-beta, cell differentiation, and promoting tumor development.

About 90 percent of DFSPs have this chromosomal translocation. A distinct chromosomal translocation involving PDGFB on chromosome 22 has been shown in situations without the COL1A1/PDGFB translocation.

The epidermal stem cell, or an undeveloped mesenchymal cell with neurologic, muscular, and fibroblastic traits, is assumed to be the source of mesenchymal disease.

Although there is no known cause of DFSP, one potential risk is damage to the skin in the area affected. There have also been reports of occurrences inside tattoos and existing scars.

Dermatofibrosarcoma protuberans have an excellent prognosis overall, with a 10-year chance of survival of 99.1 percent. Given the rarity of metastasis, morbidity from local recurrence is a more frequent problem. A risk factor for local recurrence is age over fifty.

After diagnosis, patients with metastatic illness typically live for roughly two years. Increased mortality percentages are associated with black race, high mitotic activity, enhanced cellularity, male gender, and position on the limb, head, and neck.

imatinib

100 - mg

Orally 

once a day

; continue the treatment until there is no progressive disease or unacceptable toxicity occurs



https://www.ncbi.nlm.nih.gov/books/NBK513305/