Desmoid tumor differential diagnosis

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

Overview

Desmoid tumor must be differentiated from acute hematoma, lymphoma, fibrosarcoma, rhabdomyosarcoma, liposarcoma, leiomyosarcoma, neurofibroma, benign fibrous tumor and primitive neuroectodermal tumor.

Differentiating Desmoid tumor from other Diseases

• Extra-abdominal fibromatosis/desmoid tumor must be differentiated from:
  • Fibrosarcoma/fibroblastic sarcoma
  • Low-grade fibromyxoid sarcoma
  • Gardner fibroma
• Intra-abdominal fibromatosis must be differentiated from:
  • Gastrointestinal stromal tumor (GIST)
  • Solitary fibrous tumor (SFT)
  • Inflammatory myofibroblastic tumor (IMT)
  • Sclerosing mesenteritis
  • Retroperitoneal fibrosis due to:
    • Idiopathic [Ormond's disease]
    • Secondary to certain drugs
    • Underlying malignancy such as lymphoma
• Furthermore, desmoid tumors must be differentiated from:
  • Acute hematoma
  • Lymphoma
  • Rhabdomyosarcoma
  • Liposarcoma
  • Leiomyosarcoma
  • Neurofibroma
  • Nodular fasciitis
  • Hypertrophic scars
  • Keloids
  • Benign fibrous tumor
  • Primitive neuroectodermal tumor

Disease entity	Etiology (Genetic or others)	Histopathological findings	Risk factors	Common site of involvement	Clinical manifestations	Other associated findings
Desmoid tumor	Sporadic desmoids are associated with following mutations: Wnt/beta-catenin signaling pathway Mutations in CTNNB1 (Beta-catenin gene) (85%) APC gene mutations (10-15%) Familial desmoids/Hereditary desmoid disease is associated with: Mutation in second copy of APC gene Pediatric desmoids have following additional mutations involving: AKT1 E17K (31%) BRAF V600E (19%) TP53 R273H (9%)	Histologically, desmoid tumors consist of: Linearly arranged elongated fibroblasts and myofibroblasts Characterized by elongated, tapered cytoplasm; elongated, vesicular, typical-appearing nuclei; and multiple small nucleoli Surrounded and separated from each other by collagen	Familial adenomatous polyposis (FAP) Gardner syndrome (inherited desmoids) Turcot syndrome Specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3' end of the APC gene, specifically between codons 1445 and 1580 Family history of desmoid tumor Family history of colon cancer/FAP Estrogen therapy Oral contraceptive pills Pregnancy History of antecedent surgical/accidental trauma at the tumor site (30%) History of breast cancer History of repeated irradiation to a certain body part Female gender Sex hormones/androgens	Abdominal wall (intra-abdominal desmoids) Extra-abdominal desmoids may involve:		Desmoids may be associated with following: Other sporadic tumors such as: Dupuytren's contracture Plantar fibrosis Peyronie's disease Carpal tunnel syndrome Infantile fibrosarcoma Fibrous dysplasia Trisomy 8 Trisomy 20