Difference between revisions of "Dermatofibrosarcoma protuberans"

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===Electron microscopy===
 
===Electron microscopy===
*Stellate or spindle cells with long, slender, ramified cell processes joined by primitive junctions, often with subplasmalemmal densities<ref name="pmid15249855">{{cite journal| author=Li N, McNiff J, Hui P, Manfioletti G, Tallini G| title=Differential expression of HMGA1 and HMGA2 in dermatofibroma and dermatofibrosarcoma protuberans: potential diagnostic applications, and comparison with histologic findings, CD34, and factor XIIIa immunoreactivity. | journal=Am J Dermatopathol | year= 2004 | volume= 26 | issue= 4 | pages= 267-72 | pmid=15249855 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15249855  }} </ref><ref name="pmid18705829">{{cite journal| author=Mori T, Misago N, Yamamoto O, Toda S, Narisawa Y| title=Expression of nestin in dermatofibrosarcoma protuberans in comparison to dermatofibroma. | journal=J Dermatol | year= 2008 | volume= 35 | issue= 7 | pages= 419-25 | pmid=18705829 | doi=10.1111/j.1346-8138.2008.00496.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18705829  }} </ref>
+
*[[Stellate cell|Stellate]] or [[spindle cells]] are present which have long, slender, ramified [[Cell (biology)|cell]] [[Process (anatomy)|processes]] which are [[Joint|joined]] by [[Primitive (integral)|primitive]] junctions, often with subplasmalemmal [[Density|densities]]<ref name="pmid15249855">{{cite journal| author=Li N, McNiff J, Hui P, Manfioletti G, Tallini G| title=Differential expression of HMGA1 and HMGA2 in dermatofibroma and dermatofibrosarcoma protuberans: potential diagnostic applications, and comparison with histologic findings, CD34, and factor XIIIa immunoreactivity. | journal=Am J Dermatopathol | year= 2004 | volume= 26 | issue= 4 | pages= 267-72 | pmid=15249855 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15249855  }} </ref><ref name="pmid18705829">{{cite journal| author=Mori T, Misago N, Yamamoto O, Toda S, Narisawa Y| title=Expression of nestin in dermatofibrosarcoma protuberans in comparison to dermatofibroma. | journal=J Dermatol | year= 2008 | volume= 35 | issue= 7 | pages= 419-25 | pmid=18705829 | doi=10.1111/j.1346-8138.2008.00496.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18705829  }} </ref>
*Commonly multivesicular buds<ref name="pmid16971353">{{cite journal| author=Dominguez-Malagon H, Valdez-Carrillo Mdel C, Cano-Valdez AM| title=Dermatofibroma and dermatofibrosarcoma protuberans: a comparative ultrastructural study. | journal=Ultrastruct Pathol | year= 2006 | volume= 30 | issue= 4 | pages= 283-91 | pmid=16971353 | doi=10.1080/01913120600820468 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16971353  }} </ref><ref name="pmid11172295">{{cite journal| author=Kahn HJ, Fekete E, From L| title=Tenascin differentiates dermatofibroma from dermatofibrosarcoma protuberans: comparison with CD34 and factor XIIIa. | journal=Hum Pathol | year= 2001 | volume= 32 | issue= 1 | pages= 50-6 | pmid=11172295 | doi=10.1053/hupa.2001.21137 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11172295  }} </ref>
+
* Multivesicular buds are also present commonly<ref name="pmid16971353">{{cite journal| author=Dominguez-Malagon H, Valdez-Carrillo Mdel C, Cano-Valdez AM| title=Dermatofibroma and dermatofibrosarcoma protuberans: a comparative ultrastructural study. | journal=Ultrastruct Pathol | year= 2006 | volume= 30 | issue= 4 | pages= 283-91 | pmid=16971353 | doi=10.1080/01913120600820468 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16971353  }} </ref><ref name="pmid11172295">{{cite journal| author=Kahn HJ, Fekete E, From L| title=Tenascin differentiates dermatofibroma from dermatofibrosarcoma protuberans: comparison with CD34 and factor XIIIa. | journal=Hum Pathol | year= 2001 | volume= 32 | issue= 1 | pages= 50-6 | pmid=11172295 | doi=10.1053/hupa.2001.21137 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11172295  }} </ref>
  
 
===Immunohistochemistry===
 
===Immunohistochemistry===

Revision as of 00:40, 16 August 2019

Dermatofibrosarcoma protuberans Microchapters

Overview

Classification

Pathophysiology

Epidemiology and Demographics

Risk Factors

Diagnosis

Treatment

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Sara Mohsin, M.B.B.S.[2]Kiran Singh, M.D. [3], Faizan Sheraz, M.D. [4]

Synonyms and Keywords: : Darier-Ferrand tumor, Darier-Hoffmann tumor, dermatofibrosarcoma, DFSP, Intermediate fibrous histiocytoma, Borderline fibrous histiocytoma

Overview

Dermatofibrosarcoma protuberans (DFSP) is a rare neoplasm of the dermis layer of the skin, and is classified as a sarcoma. In many respects, the disease behaves as a benign tumor, but in 2-5% of cases it can metastasize, so it should be considered to have malignant potential. Over 95% of DFSP tumors have the chromosomal translocation t(17;22). The translocation fuses the collagen gene (COL1A1) with the platelet-derived growth factor gene. The fibroblast, the cell of origin of this tumor, expresses the fusion gene in the belief that it is collagen. However, the resulting fusion protein is processed into mature platelet-derived growth factor which is a potent growth factor. Fibroblasts contain the receptor for this growth factor. Thus, the cell "thinks" it is producing a structural protein, but in fact produces a self-stimulatory growth signal. The cell divides rapidly and a tumor forms. In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often metastasize to other parts of the body.

Classification

There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. [1][2][3]

Different variants of dermatofibrosarcoma protuberans
Variant subtype Details
Pigmented dermatofibrosarcoma protuberans (Bednar tumor)
Myxoid dermatofibrosarcoma protuberans tumor
Juvenile dermatofibrosarcoma protuberans (Giant cell fibroblastoma)

Pathophysiology

Epigenetics

Gross Pathology

Gross features of dermatofibrosarcoma protuberans include:

Histopathology

Microscopic features include:

Cytology

Cytology of dermatofibrosarcoma has following characteristics:[24][25]

Electron microscopy

Immunohistochemistry

Epidemiology and Demographics

  • Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year
  • usually adults 20 - 40 years
  • more common in blacks in US[37]
  • Can occur in infants and children [38][39][40]
  • Incidence is stable and highest among women and blacks. Worse survival is associated with increased age, male sex, black race, and anatomic location of the limbs and head.[41][42]
  • most commonly present on the trunk

Diagnosis

History and symptoms

  • Symptoms include:[43]
  • Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck

Physical examination

  • 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
  • It typically grows slowly and can become a raised nodule
  • Occasionally, the tumor begins as a flat or depressed patch of skin (plaque)

Skin

Extremities
Trunk

Diagnostic studies

  • These include:[45][46]
    • FNAC [25][26][47][24]
    • Immunohistochemistry
    • CT images demonstrating a dermatofibrosarcoma protuberans in the right groin

Treatment

  • Treatment includes:[49][50][51][52][53][54]
    • Imatinib-STI571 (tyrosine kinase inhibitor) therapy (may be effective in CD117- tumors) is the gold standard treatment of recurrent or inoperable tumor
    • Excisional sugery including the removal of subcutaneous fat (i.e. wide local excision with 2 - 3 cm margins) alongwith 3-dimensional histologic evaluation of margins is necessarily recommended in order to prevent the tumor recurrence
  • Treatment is primarily surgical, with chemotherapy and radiation therapy sometimes being used.
  • There is clinical evidence that imatinib, which inhibits PDGFB, may be effective for tumors positive for the t(17;22) translocation.

Differential Diagnosis

Dermatofibrosarcoma protuberans must be differentiated must be differentiated from the following:[55][56][57]

Differentiating neurofibroma from other diseases
Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Risk factors Common site of involvement Clinical manifestations Other associated features
Neurofibroma[58][59][60][61][62][63][64][61][65][66][67][68]

Can be sporadic or as a part of Neurofibromatosis 1 and 2

Neurofibroma with degenerative atypia ("ancient change") has following microscopic features:

Positive for:

Negative for:

Schwannoma[69][70][71][72][73] Positive for:

Negative for:

Symptoms of schwannoma depend on the location of the tumor:

Palisaded encapsulated neuroma (PEN) /solitary circumscribed neuroma[74] Positive for:

Negative for:

90% lesions affect the face involving:

Remaining 10% can occur anywhere in body involving:

Traumatic neuroma[75][76][77][78] Positive for: Most common oral locations are:

Rarely involves:

Also known as:
Neurotized melanocytic nevus[79][80][81][82] Positive for:

Negative for:

Can occur anywhere in body, mostly involving following areas: _
Cutaneous myxoma (Superficial angiomyxoma)[83][84][85][86] Positive for:

Negative for:

Associated with Carney's complex/syndrome which includes following:

May be associated with NAME or LAMB syndrome

Nerve sheath myxoma[87][88][89][90][91][92] Positive for: _ Can occur anywhere in body:
Malignant peripheral nerve sheath tumor (MPNST)/malignant schwannoma[93][94][95][96][97][98]

Electron microscopy shows:

Positive for:

In case of glandular differentiation (malignant), positive for:

Negative for:

Associated with:

May be associated with:

Bulky deep-seated tumor usually arising from major nerves in:
Dermatofibrosarcoma protuberans (DFSP) Positive for:

Negative for:

_
Spindle cell lipoma Positive for:

Spindle cells are negative for:

_
  • Multiple well-circumscribed painless nodules involving several body parts
_
Ganglioneuroma[99][100] Genes involved in the pathogenesis of ganglioneuroma include:

Two histologic subtypes:

Positive for:

Negative for:

Ganglioneuromas may be associated with:

Located along distribution of sympathetic nervous system:

Symptoms of ganglioneuroma vary depending on the location of tumor, and include the following:

Patients with ganglioneuroma may also have paraneoplastic syndrome, which may manifest with:

Ganglioneuromas are included in the neuroblastic tumors group, which includes:

Myxoid liposarcoma[101][102][103][104][105][106][107][108][109][110]

Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:

Myxoid liposarcoma is associated with:

Pleomorphicliposarcoma is associated with:

Well-differentiated liposarcoma:

De-differentiated liposarcoma:

Atypical lipomatous tumor/well differentiated liposarcoma is positive for:

_
Leiomyoma[111][112][113][114][115][116][117][118][112][115][119]

Positive for:

Negative for:

_
Inflammatory myofibroblastic tumor(IMT)[111][112][113][114][115][116][117][118][112][115][119]

Unknown underlying etiology, may be due to inflammatory reaction to:

Mutations such as:

Positive for:

Negative for:

Also known as:

Fibroepithelial polyp/Acrochordon[120][121][122][123][124][125][126][127][128][129][130][131][132][133][134][135][136][137][138][139] Associated with: Positive for:

Negative for:

Associated with:

Also known as:


References

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