Desmoid tumor differential diagnosis: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 31: Line 31:
**[[Benign]] fibrous [[tumor]]
**[[Benign]] fibrous [[tumor]]
**[[Primitive neuroectodermal tumor]]
**[[Primitive neuroectodermal tumor]]
{| class="wikitable"
|+
!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
|-
|
|
|
|
|
|
|
|-
|
|
|
|
|
|
|
|-
|
|
|
|
|
|
|
|-
|
|
|
|
|
|
|
|}


==Reference==
==Reference==

Revision as of 15:07, 6 March 2019

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

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

Reference

  1. ↑ Economou, Athanasios; Pitta, Xanthi; Andreadis, Efstathios; Papapavlou, Leonidas; Chrissidis, Thomas (2011). "Desmoid tumor of the abdominal wall: a case report". Journal of Medical Case Reports. 5 (1): 326. doi:10.1186/1752-1947-5-326. ISSN 1752-1947.
  2. ↑ Kasper B, Ströbel P, Hohenberger P (2011). "Desmoid tumors: clinical features and treatment options for advanced disease". Oncologist. 16 (5): 682–93. doi:10.1634/theoncologist.2010-0281. PMC 3228186. PMID 21478276.
  3. ↑ Carlson JW, Fletcher CD (2007). "Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature". Histopathology. 51 (4): 509–14. doi:10.1111/j.1365-2559.2007.02794.x. PMID 17711447.
  4. ↑ Wu X, Petrovic V, Torode IP, Chow CW (2009). "Low grade fibromyxoid sarcoma: problems in the diagnosis and management of a malignant tumour with bland histological appearance". Pathology. 41 (2): 155–60. doi:10.1080/00313020802579276. PMID 19152188.
  5. ↑ Bartuma H, Möller E, Collin A, Domanski HA, Von Steyern FV, Mandahl N; et al. (2010). "Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma". Cancer Genet Cytogenet. 199 (2): 143–6. doi:10.1016/j.cancergencyto.2010.02.011. PMID 20471519.
  6. ↑ Wehrli BM, Weiss SW, Yandow S, Coffin CM (2001). "Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis". Am J Surg Pathol. 25 (5): 645–51. PMID 11342777.
  7. ↑ Coffin CM, Hornick JL, Fletcher CD (2007). "Inflammatory myofibroblastic tumor: comparison of clinicopathologic, histologic, and immunohistochemical features including ALK expression in atypical and aggressive cases". Am J Surg Pathol. 31 (4): 509–20. doi:10.1097/01.pas.0000213393.57322.c7. PMID 17414097.
  8. ↑ Swartz RD (2009). "Idiopathic retroperitoneal fibrosis: a review of the pathogenesis and approaches to treatment". Am J Kidney Dis. 54 (3): 546–53. doi:10.1053/j.ajkd.2009.04.019. PMID 19515472.

Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Desmoid_tumor_differential_diagnosis&oldid=1556549"