Desmoid tumor laboratory tests

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

Overview

Immunohistochemical staining of spindle cells of desmoid tumors are positive for nuclear beta-catenin, vimentin, alpha smooth muscle actin, muscle actin and negative for desmin, cytokeratins, and S-100. Antibodies like smooth muscle actin, desmin and KIT may be helpful in distinguishing desmoid tumors from other tumors. In addition, APC germline mutations may be performed in patients with sporadic desmoid tumors with no clinical or famililal signs of FAP but having a family history of colorectal carcinoma in at least one family member.

Laboratory tests

• The molecular testing can be performed in general by performing a variety of following methods:
  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

Characteristic features of desmoid tumors on immunohistochemistry and relevant antibodies

Other diagnostic tests	Associated characteristics features
Immunohistochemistry (aids histologic diagnosis)	Spindle cells on immunohistochemical stains show the following features: Positive for: Nuclear beta-catenin (regardless of the site, 90% of desmoids show nuclear reactivity, relatively high specificity) Vimentin Alpha smooth muscle actin Muscle actin Negative for: Desmin Cytokeratins S-100
Antibodies	In order to distinguish desmoid tumors from other tumors, following antibodies are often examined: Smooth muscle actin Desmin KIT
APC germline mutational analysis	Sporadic desmoid tumor patients with no clinical or familial signs of familial adenomatous polyposis (FAP) but having a family history of colorectal carcinoma in at least one family member