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]
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:[1][2][3]
- Fibrosarcoma/fibroblastic sarcoma
- Low-grade fibromyxoid sarcoma[4][5]
- Gardner fibroma[6]
- Intra-abdominal fibromatosis must be differentiated from:[7]
- Gastrointestinal stromal tumor (GIST)
- Solitary fibrous tumor (SFT)
- Inflammatory myofibroblastic tumor (IMT)
- Sclerosing mesenteritis
- Retroperitoneal fibrosis due to:[8]
- Idiopathic [Ormond's disease]
- Secondary to certain drugs
- Underlying malignancy such as lymphoma
- Furthermore, desmoid tumors must be differentiated from:
Disease entity | Etiology (Genetic or others) | Histopathological findings | Immunohistochemical staining | Benign/Malignant | Risk factors | Common site of involvement | Clinical manifestations | Other associated findings |
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Desmoid tumor | Sporadic desmoids are associated with following mutations:
Familial desmoids/Hereditary desmoid disease is associated with:
Pediatric desmoids have following additional mutations involving:
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Histologically, desmoid tumors consist of:
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Positive for:
Negative for:
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Desmoids may be associated with following:
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Fibrosarcoma/Fibroblastic sarcoma |
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Strongly positive for:
Negative for:
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Primary bone malignancy involving end of long bones:
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Low-grade fibromyxoid sarcoma[4][5][9][10][11][12][13][14] | Translocation:
Fusion gene:
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Positive for:
Occasionally positive for:
Negative for:
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_
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Majority occurring in subfascial location and rarely involving subcutis or dermis in following sites:
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_ |
Solitary fibrous tumor (SFT) [15][16][17][18][19][20][21][22][23] | Intra-chromosomal inversion at:
TERT promoter mutations responsible for:
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Positive for:
In few cases, positive for:
Negative for:
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_ |
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Paraneoplastic syndromes associated with SFTs include:
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Gardner fibroma/Gardner-associated fibroma (GAF)[24][25][6][26] |
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Positive for:
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Any part of body:
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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:
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GIST cells basically arise from interstitial cells of Cajal (ICCs) and appear as follows on histology:
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Positive for:
Consistently negative for:
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Can involve any part of GIT:
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Depending on tumor size and localization in GIT:
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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:
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Positive for:
Negative for:
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Also known as:
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Sclerosing mesenteritis[40][41][42][43][44][45][46][47][48][49][50][51][52] | Unknown exact etiology:
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Varying components of:
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_ |
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Nomenclature used in the medical literature for idiopathic primary inflammatory and fibrotic processes of the mesentery is as follows:
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Retroperitoneal fibrosis |
Idiopathic (70%) [Ormond's disease] is an immune-mediated disease caused by:
Secondary to:
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Fibro-inflammatory disease histologically hallmarked by fibrous tissue and chronic inflammation:
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Retroperitoneal fibrosis is also known as:
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Acute hematoma | ||||||||
Lymphoma | ||||||||
Rhabdomyosarcoma | ||||||||
Liposarcoma | ||||||||
Neurofibroma | Positive for:
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Nodular fasciitis | ||||||||
Hypertrophic scars | ||||||||
Keloids | ||||||||
Benign fibrous tumor | ||||||||
Primitive neuroectodermal tumor |
Reference
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 4.1 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.
- ↑ 5.0 5.1 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.
- ↑ 6.0 6.1 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.
- ↑ 7.0 7.1 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.
- ↑ 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.
- ↑ Doyle LA, Möller E, Dal Cin P, Fletcher CD, Mertens F, Hornick JL (2011). "MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma". Am J Surg Pathol. 35 (5): 733–41. doi:10.1097/PAS.0b013e318210c268. PMID 21415703.
- ↑ Lee AF, Yip S, Smith AC, Hayes MM, Nielsen TO, O'Connell JX (2011). "Low-grade fibromyxoid sarcoma of the perineum with heterotopic ossification: case report and review of the literature". Hum Pathol. 42 (11): 1804–9. doi:10.1016/j.humpath.2011.01.023. PMID 21658743.
- ↑ Brasanac D, Dzelatovic NS, Stojanovic M (2013). "Giant cystic superficial low-grade fibromyxoid sarcoma". Ann Diagn Pathol. 17 (2): 222–5. doi:10.1016/j.anndiagpath.2011.09.001. PMID 22136982.
- ↑ Vernon SE, Bejarano PA (2006). "Low-grade fibromyxoid sarcoma: a brief review". Arch Pathol Lab Med. 130 (9): 1358–60. doi:10.1043/1543-2165(2006)130[1358:LFSABR]2.0.CO;2. PMID 16948525.
- ↑ Lane KL, Shannon RJ, Weiss SW (1997). "Hyalinizing spindle cell tumor with giant rosettes: a distinctive tumor closely resembling low-grade fibromyxoid sarcoma". Am J Surg Pathol. 21 (12): 1481–8. PMID 9414192.
- ↑ Nielsen GP, Selig MK, O'Connell JX, Keel SB, Dickersin GR, Rosenberg AE (1999). "Hyalinizing spindle cell tumor with giant rosettes: a report of three cases with ultrastructural analysis". Am J Surg Pathol. 23 (10): 1227–32. PMID 10524523.
- ↑ Hanau CA, Miettinen M (1995). "Solitary fibrous tumor: histological and immunohistochemical spectrum of benign and malignant variants presenting at different sites". Hum Pathol. 26 (4): 440–9. PMID 7705824.
- ↑ de Saint Aubain Somerhausen N, Rubin BP, Fletcher CD (1999). "Myxoid solitary fibrous tumor: a study of seven cases with emphasis on differential diagnosis". Mod Pathol. 12 (5): 463–71. PMID 10349983.
- ↑ Cranshaw IM, Gikas PD, Fisher C, Thway K, Thomas JM, Hayes AJ (2009). "Clinical outcomes of extra-thoracic solitary fibrous tumours". Eur J Surg Oncol. 35 (9): 994–8. doi:10.1016/j.ejso.2009.02.015. PMID 19345055.
- ↑ England DM, Hochholzer L, McCarthy MJ (1989). "Localized benign and malignant fibrous tumors of the pleura. A clinicopathologic review of 223 cases". Am J Surg Pathol. 13 (8): 640–58. PMID 2665534.
- ↑ Demicco EG, Park MS, Araujo DM, Fox PS, Bassett RL, Pollock RE; et al. (2012). "Solitary fibrous tumor: a clinicopathological study of 110 cases and proposed risk assessment model". Mod Pathol. 25 (9): 1298–306. doi:10.1038/modpathol.2012.83. PMID 22575866.
- ↑ van Houdt WJ, Westerveld CM, Vrijenhoek JE, van Gorp J, van Coevorden F, Verhoef C; et al. (2013). "Prognosis of solitary fibrous tumors: a multicenter study". Ann Surg Oncol. 20 (13): 4090–5. doi:10.1245/s10434-013-3242-9. PMID 24052313.
- ↑ Chmielecki J, Crago AM, Rosenberg M, O'Connor R, Walker SR, Ambrogio L; et al. (2013). "Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors". Nat Genet. 45 (2): 131–2. doi:10.1038/ng.2522. PMC 3984043. PMID 23313954.
- ↑ Robinson DR, Wu YM, Kalyana-Sundaram S, Cao X, Lonigro RJ, Sung YS; et al. (2013). "Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing". Nat Genet. 45 (2): 180–5. doi:10.1038/ng.2509. PMC 3654808. PMID 23313952.
- ↑ Schweizer L, Koelsche C, Sahm F, Piro RM, Capper D, Reuss DE; et al. (2013). "Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein". Acta Neuropathol. 125 (5): 651–8. doi:10.1007/s00401-013-1117-6. PMID 23575898.
- ↑ Coffin, Cheryl M.; Hornick, Jason L.; Zhou, Holly; Fletcher, Christopher D.M. (2007). "Gardner Fibroma: A Clinicopathologic and Immunohistochemical Analysis of 45 Patients With 57 Fibromas". The American Journal of Surgical Pathology. 31 (3): 410–416. doi:10.1097/01.pas.0000213348.65014.0a. ISSN 0147-5185.
- ↑ Dahl, Nathan A.; Sheil, Amy; Knapke, Sarah; Geller, James I. (2016). "Gardner Fibroma". Journal of Pediatric Hematology/Oncology. 38 (5): e154–e157. doi:10.1097/MPH.0000000000000493. ISSN 1077-4114.
- ↑ Schäfer M, Kadmon M, Schmidt W, Treiber I, Moog U, Sutter C; et al. (2016). "Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports". European J Pediatr Surg Rep. 4 (1): 17–21. doi:10.1055/s-0036-1582443. PMC 5177561. PMID 28018803.
- ↑ Zarkavelis G, Petrakis D, Pavlidis N (2015). "Gastrointestinal stromal tumors during pregnancy: a systematic review of an uncommon but treatable malignancy". Clin Transl Oncol. 17 (10): 757–62. doi:10.1007/s12094-015-1315-x. PMID 26055339.
- ↑ Navarrete A, Momblán D, Almenara R, Lacy A (2017). "Giant Gastric Gastrointestinal Stromal Tumor (GIST)". J Gastrointest Surg. 21 (1): 202–204. doi:10.1007/s11605-016-3196-x. PMID 27384431.
- ↑ Scherjon S, Lam WF, Gelderblom H, Jansen FW (2009). "Gastrointestinal stromal tumor in pregnancy: a case report". Case Rep Med. 2009: 456402. doi:10.1155/2009/456402. PMC 2745024. PMID 19763238.
- ↑ Acín-Gándara D, Pereira-Pérez F, Castaño-Pascual A, Durán-Poveda M, Antequera-Pérez A, Miliani-Molina C (2012). "Gastrointestinal stromal tumors: diagnosis and treatment". Cir Cir. 80 (1): 44–51. PMID 22472152.
- ↑ Lanzafame S, Minutolo V, Caltabiano R, Minutolo O, Marino B, Gagliano G; et al. (2006). "About a case of GIST occurring during pregnancy with immunohistochemical expression of epidermal growth factor receptor and progesterone receptor". Pathol Res Pract. 202 (2): 119–23. doi:10.1016/j.prp.2005.08.013. PMID 16413690.
- ↑ Coffin CM, Watterson J, Priest JR, Dehner LP (1995). "Extrapulmonary inflammatory myofibroblastic tumor (inflammatory pseudotumor). A clinicopathologic and immunohistochemical study of 84 cases". Am J Surg Pathol. 19 (8): 859–72. PMID 7611533.
- ↑ 33.0 33.1 Wenig BM, Devaney K, Bisceglia M (1995). "Inflammatory myofibroblastic tumor of the larynx. A clinicopathologic study of eight cases simulating a malignant spindle cell neoplasm". Cancer. 76 (11): 2217–29. PMID 8635024.
- ↑ Ramachandra S, Hollowood K, Bisceglia M, Fletcher CD (1995). "Inflammatory pseudotumour of soft tissues: a clinicopathological and immunohistochemical analysis of 18 cases". Histopathology. 27 (4): 313–23. PMID 8847061.
- ↑ Häusler M, Schaade L, Ramaekers VT, Doenges M, Heimann G, Sellhaus B (2003). "Inflammatory pseudotumors of the central nervous system: report of 3 cases and a literature review". Hum Pathol. 34 (3): 253–62. doi:10.1053/hupa.2003.35. PMID 12673560.
- ↑ 36.0 36.1 Rabban JT, Zaloudek CJ, Shekitka KM, Tavassoli FA (2005). "Inflammatory myofibroblastic tumor of the uterus: a clinicopathologic study of 6 cases emphasizing distinction from aggressive mesenchymal tumors". Am J Surg Pathol. 29 (10): 1348–55. PMID 16160478.
- ↑ Kovach SJ, Fischer AC, Katzman PJ, Salloum RM, Ettinghausen SE, Madeb R; et al. (2006). "Inflammatory myofibroblastic tumors". J Surg Oncol. 94 (5): 385–91. doi:10.1002/jso.20516. PMID 16967468.
- ↑ Coffin CM, Dehner LP, Meis-Kindblom JM (1998). "Inflammatory myofibroblastic tumor, inflammatory fibrosarcoma, and related lesions: an historical review with differential diagnostic considerations". Semin Diagn Pathol. 15 (2): 102–10. PMID 9606802.
- ↑ Berardi RS, Lee SS, Chen HP, Stines GJ (1983). "Inflammatory pseudotumors of the lung". Surg Gynecol Obstet. 156 (1): 89–96. PMID 6336632.
- ↑ Durst AL, Freund H, Rosenmann E, Birnbaum D (1977). "Mesenteric panniculitis: review of the leterature and presentation of cases". Surgery. 81 (2): 203–11. PMID 835091.
- ↑ Kipfer RE, Moertel CG, Dahlin DC (1974). "Mesenteric lipodystrophy". Ann Intern Med. 80 (5): 582–8. PMID 4499963.
- ↑ Monahan DW, Poston WK, Brown GJ (1989). "Mesenteric panniculitis". South Med J. 82 (6): 782–4. PMID 2660295.
- ↑ Parra-Davila E, McKenney MG, Sleeman D, Hartmann R, Rao RK, McKenney K; et al. (1998). "Mesenteric panniculitis: case report and literature review". Am Surg. 64 (8): 768–71. PMID 9697910.
- ↑ Kelly JK, Hwang WS (1989). "Idiopathic retractile (sclerosing) mesenteritis and its differential diagnosis". Am J Surg Pathol. 13 (6): 513–21. PMID 2658633.
- ↑ Emory TS, Monihan JM, Carr NJ, Sobin LH (1997). "Sclerosing mesenteritis, mesenteric panniculitis and mesenteric lipodystrophy: a single entity?". Am J Surg Pathol. 21 (4): 392–8. PMID 9130985.
- ↑ OGDEN WW, BRADBURN DM, RIVES JD (1965). "MESENTERIC PANNICULITIS: REVIEW OF 27 CASES". Ann Surg. 161: 864–75. PMC 1409094. PMID 14295938.
- ↑ Khachaturian T, Hughes J (1988). "Mesenteric panniculitis". West J Med. 148 (6): 700–1. PMC 1026221. PMID 3176478.
- ↑ Daskalogiannaki M, Voloudaki A, Prassopoulos P, Magkanas E, Stefanaki K, Apostolaki E; et al. (2000). "CT evaluation of mesenteric panniculitis: prevalence and associated diseases". AJR Am J Roentgenol. 174 (2): 427–31. doi:10.2214/ajr.174.2.1740427. PMID 10658720.
- ↑ Akram S, Pardi DS, Schaffner JA, Smyrk TC (2007). "Sclerosing mesenteritis: clinical features, treatment, and outcome in ninety-two patients". Clin Gastroenterol Hepatol. 5 (5): 589–96, quiz 523-4. doi:10.1016/j.cgh.2007.02.032. PMID 17478346.
- ↑ Sharma P, Yadav S, Needham CM, Feuerstadt P (2017). "Sclerosing mesenteritis: a systematic review of 192 cases". Clin J Gastroenterol. 10 (2): 103–111. doi:10.1007/s12328-017-0716-5. PMID 28197781.
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- ↑ Mathew J, McKenna F, Mason J, Haboubi NY, Borghol M (2004). "Sclerosing mesenteritis with occult ileal perforation: report of a case simulating extensive intra-abdominal malignancy". Dis Colon Rectum. 47 (11): 1974–7. PMID 15622594.
- ↑ Horton KM, Lawler LP, Fishman EK (2003). "CT findings in sclerosing mesenteritis (panniculitis): spectrum of disease". Radiographics. 23 (6): 1561–7. doi:10.1148/rg.1103035010. PMID 14615565.
- ↑ Papadaki HA, Kouroumalis EA, Stefanaki K, Roussomoustakaki M, Daskalogiannaki ME, Reppa D; et al. (2000). "Retractile mesenteritis presenting as fever of unknown origin and autoimmune haemolytic anaemia". Digestion. 61 (2): 145–8. doi:10.1159/000007748. PMID 10705180.
- ↑ Vidarsson B, Matthíasson P, Agnarsson BA, Onundarson PT (2002). "Mesenteric panniculitis presenting with autoimmune haemolytic anaemia". Acta Haematol. 107 (1): 35–7. doi:10.1159/000046627. PMID 11818670.
- ↑ Vernace MA, Bellucci AG, Mossey RT, Susin M, Mailloux LU, Wilkes BM; et al. (1996). "Minimal change nephropathy associated with sclerosing mesenteritis". Nephron. 73 (3): 473–6. doi:10.1159/000189113. PMID 8832610.
- ↑ Dor AM, Kohler JL, Aubrespy P, Scheiner C, Pizzi M, Lebreuil G (1982). "[Mesenteric panniculitis, an unusual initial stage of acute lupus erythematosus in a ten-year old girl (author's transl)]". Arch Anat Cytol Pathol. 30 (2): 121–4. PMID 7103574.
- ↑ Sauvaget F, Piette JC, Galezowski N, Jouanique C, Chapelon C, Blétry O; et al. (1993). "[Relapsing polychondritis and mesenteric panniculitis: apropos of 2 cases]". Rev Med Interne. 14 (4): 253–6. PMID 8378657.
- ↑ Arroyo-Ávila M, Vilá LM (2014). "Limited systemic sclerosis initially presenting with mesenteric panniculitis". BMJ Case Rep. 2014. doi:10.1136/bcr-2014-206961. PMC 4202032. PMID 25326572.
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