Desmoid tumor differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.B.B.S.[2]


Extra-abdominal desmoid tumor must be differentiated from fibrosarcoma, low-grade fibromyxoid sarcoma and Gardner fibroma. Intra-abdominal desmoid tumor must be differentiated from gastrointestinal stromal tumor (GIST), benign fibrous tumor/solitary fibrous tumor (SFT), inflammatory myofibroblastic tumor (IMT), sclerosing mesenteritis and retroperitoneal fibrosis. Furthermore, generally all desmoid tumors must be differentiated from acute hematoma, lymphoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, nodular fasciitis, hypertrophic scars,keloids and primitive neuroectodermal tumor.

Differentiating Desmoid tumor from other Diseases

Differentiating desmoid tumor from other diseases
Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Benign/Malignant Risk factors Common site of involvement Clinical manifestations Other associated features
Desmoid tumor Sporadic desmoids are associated with following mutations:

Familial desmoids/Hereditary desmoid disease is associated with:

Pediatric desmoids have following additional mutations involving:

Histologically, desmoid tumors consist of: Positive for:

Negative for:

Desmoids may be associated with following:
Fibrosarcoma/Fibroblastic sarcoma Strongly positive for:

Negative for:

Primary bone malignancy involving end of long bones:
Low-grade fibromyxoid sarcoma[4][5][9][10][11][12][13][14] Translocation:
  • t(7;18;16) or
  • t(7;16) (q34:p11)

Fusion gene:

Positive for:
  • MUC4 (highly specific and sensitive)
  • Vimentin

Occasionally positive for:

Negative for:

Majority occurring in subfascial location and rarely involving subcutis or dermis in following sites:
  • Painless, slow-growing well-circumscribed mass
  • Average size-5cm (ranges from 1-20cm)
Benign fibrous tumor/Solitary fibrous tumor (SFT) [15][16][17][18][19][20][21][22][23] Intra-chromosomal inversion at:

TERT promoter mutations responsible for:

Positive for:

In few cases, positive for:

Negative for:

_ Paraneoplastic syndromes associated with SFTs include:
Gardner fibroma/Gardner-associated fibroma (GAF)[24][25][6][26] Positive for: Any part of body:
Gastrointestinal stromal tumor (GIST)[27][28][29][30][31] Activating mutation of:

Pediatric GISTs (SDH-deficient) have mutations of one of the:

GIST as a part of Carney triad has following mutation:

Wild-type GISTs have following three molecular subtypes:

GIST cells basically arise from interstitial cells of Cajal (ICCs) and appear as follows on histology: Positive for:

Consistently negative for:

Can involve any part of GIT: Depending on tumor size and localization in GIT: _
Inflammatory myofibroblastic tumor (IMT)[32][33][34][35][36][37][38][39][33][36][7] Unknown underlying etiology, may be due to inflammatory reaction to:

Mutations such as:

Positive for:

Negative for:

Also known as:
Sclerosing mesenteritis[40][41][42][43][44][45][46][47][48][49][50][51][52]


Unknown exact etiology: Varying components of: _ Nomenclature used in the medical literature for idiopathic primary inflammatory and fibrotic processes of the mesentery is as follows:
Retroperitoneal fibrosis[61][62][63][64][65][66][67][68][69][70][71][72][73]

Idiopathic (70%) [Ormond's disease] is an immune-mediated disease caused by:

Secondary to:

Fibro-inflammatory disease histologically hallmarked by fibrous tissue and chronic inflammation: Retroperitoneal fibrosis is also known as:
Lymphoma Diffuse large B cell lymphoma (DLBCL):

Extranodal marginal B cell lymphoma:

Follicular lymphoma:

Burkitt lymphoma:

Positive for:

Negative for:

Anywhere in body WHO classification of lymphoma:
Rhabdomyosarcoma (RMS)[74][75][76][77][78][79][80][81][82][83] Histologic classification: Positive for:

Maybe positive for:

Histology of RMS similar to that of other childhood small round blue cell tumors involving bone and soft tissue such as:
Liposarcoma[84][85][86][87][88][89][90][91][92][93] Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:

Myxoid liposarcoma is associated with:

Pleomorphic liposarcoma is associated with:

Well-differentiated liposarcoma:

De-differentiated liposarcoma:

Atypical lipomatous tumor/well differentiated liposarcoma is positive for: _
Leiomyosarcoma[94][95][96][97][98][99][100][101][102] Positive for:

Negative for:

Neurofibroma[103][104][105][106][107][108][109][106][110][111][112] Can be sporadic or as a part of Neurofibromatosis 1 and 2 Positive for:

Negative for:

Nodular fasciitis[113][114][115][116][117][118][119][120][121][122] Positive for:

Negative for:

Also known as:
Hypertrophic scars _

Adverse wound healing factors at the injury site such as:

Hypertrophic scars can be classified as:
Keloids[123][124][125][126] _

Adverse wound healing factors at the injury site such as:

Keloids may be associated with rare inherited syndromes such as:

Keloids can be prevented by using:

Keloids can be classified as:

Primitive neuroectodermal tumor (PNET)[127][128][129] Positive for:

Negative for:

Also known as:

WHO classified PNET into 3 subtypes:

Peripheral PNET (pPNET) is now thought to be virtually identical to Ewing sarcoma


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