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	Immunohistochemical staining	Benign/Malignant	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	Positive for: Nuclear beta-catenin (90%) Vimentin Alpha smooth muscle actin Muscle actin Negative for: Desmin Cytokeratins S-100 Positive antibodies for: Smooth muscle actin Desmin KIT	Benign Local aggressive infiltration	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: Shoulder girdle Upper arms Upper legs Hip/buttock region Trunk Head Neck Breast (history of breast cancer/breast surgery Intra-abdominal desmoids may involve: Mesentery Retroperitoneum Bowel	Asymptomatic Painless/painful lump in affected area Pain or soreness caused by compressed nerves or muscles Limping or other difficulty using the legs, feet, arms or hands Decreased movement or range of motion Nausea Vomiting Breast mass (in case of breast desmoids) Loss of sleep Anxiety Abdominal mass/pain Constipation Bloating Intestinal rupture Rectal bleeding Compression of kidneys, ureters, mesenteric vessels and vena cava	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
Fibrosarcoma/Fibroblastic sarcoma	Unknown precise cause Genetics may play a role	Tumor cells resemble mature fibroblasts (spindle-shaped), secreting collagen, with rare mitoses Spliting and merging cells arranged in short fascicles giving "fish bone" appearnace Immature blood vessels (lacking endothelial cells) favor the bloodstream metastasizing "Herringbone" pattern of cell arrangement	Strongly positive for: Vimentin Negative for: Desmin Smooth muscle actin HHF-35 Osteocalcin CD-68 LCA s100 HMB-45 CD-31 CD-34 Cytokeratin Epithelial membrane antigen CD-99	Malignant (with metastatic potential)	Familial adenomatous polyposis Li-Fraumeni syndrome Neurofibromatosis type 1 Nevoid basal cell carcinoma syndrome Retinoblastoma Tuberous sclerosis Werner syndrome Giant cell tumor Enchondroma Fibrous dysplasia Bizarre parosteal osteochondromatous proliferation Chronic osteomyelitis Paget's disease Radiation therapy Surgically treated fracture Bone infarction Exposure to certain chemicals, such as thorium dioxide, vinyl chloride, or arsenic Lymphedema, a swelling in the arms and legs	Primary bone malignancy involving end of long bones: Upper end of tibia Lower end of femur	Localized Pain Swelling Loss of range of motion Pain with weight-bearing Night pain Pathologic fracture of affected bone	Moth-eaten appearance on Xray
Low-grade fibromyxoid sarcoma	Translocation: t(7;18;16)	Low to moderate cellularity Regular medium sized nuclei Spindle cells arranged in whorling pattern Presence of collagenized and myxoid areas.	Positive for: Vimentin Negative for: Keratin Desmin Actin S100 Epithelial membrane antigen	Malignant (with high metastasizing potential)		Rarely, mandible