Gastrointestinal stromal tumor differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]Parminder Dhingra, M.D. [3]

Overview

Around 75 % of the patients with gastrointestinal stromal tumors (GIST) are asymptomatic and the rest have non-specific symptoms such as vague abdominal pain and discomfort. Thus, GIST must be differentiated from other tumors on the basis of cell markers. GIST must be differentiated from other mesenchymal tumors such as gastrointestinal leiomyoma, gastrointestinal leiomyosarcoma, gastrointestinal carcinoma, gastrointestinal schwannoma and melanoma.

Differential Diagnosis

Around 75 % of the patients with gastrointestinal stromal tumors (GIST) are asymptomatic and the rest have non-specific symptoms such as vague abdominal pain and discomfort. Thus, GIST must be differentiated from other tumors on the basis of cell markers. GIST must be differentiated from other mesenchymal tumors such as gastrointestinal leiomyoma, gastrointestinal leiomyosarcoma, gastrointestinal carcinoma, gastrointestinal schwannoma and melanoma.[1][2][3][4]

Marker GIST GI leiomyoma GI Leiomyosarcoma Schwannoma GI Carcinoma Melanoma
CD117 Positive (95%) Negative Negative Negative Positive (50%) Positive
CD34 Positive (70%) Negative Negative Positive (33%) Negative Negative
DOG 1 Positive (95%) Negative Negative Negative Negative Rare
Other

Markers

Desmin positive

in 1-2%

Desmin positive in

100% cases

Desmin positive but

variable proportion

GFAP positive Keratin positive S100 positive

References

  1. West RB, Corless CL, Chen X, Rubin BP, Subramanian S, Montgomery K, Zhu S, Ball CA, Nielsen TO, Patel R, Goldblum JR, Brown PO, Heinrich MC, van de Rijn M (2004). "The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status". Am. J. Pathol. 165 (1): 107–13. doi:10.1016/S0002-9440(10)63279-8. PMC 1618538. PMID 15215166.
  2. "Gastrointestinal stromal tumour".
  3. Baskin Y, Kocal GC, Kucukzeybek BB, Akbarpour M, Kayacik N, Sagol O, Ellidokuz H, Oztop I (2016). "PDGFRA and KIT Mutation Status and Its Association With Clinicopathological Properties, Including DOG1". Oncol. Res. 24 (1): 41–53. doi:10.3727/096504016X14576297492418. PMID 27178821.
  4. Gerhart DZ, Broderius MA, Borson ND, Drewes LR (1992). "Neurons and microvessels express the brain glucose transporter protein GLUT3". Proc. Natl. Acad. Sci. U.S.A. 89 (2): 733–7. PMC 48313. PMID 1731347.


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