Desmoid tumor laboratory tests: Difference between revisions

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|'''Immunohistochemistry'''
|'''Immunohistochemistry'''
(aids histologic diagnosis)
(aids histologic diagnosis)<ref name="pmid17711447">{{cite journal| author=Carlson JW, Fletcher CD| title=Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. | journal=Histopathology | year= 2007 | volume= 51 | issue= 4 | pages= 509-14 | pmid=17711447 | doi=10.1111/j.1365-2559.2007.02794.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17711447  }} </ref>
|Spindle cells on immunohistochemical stains show the following features:
|Spindle cells on immunohistochemical stains show the following features:
*Positive for:
*Positive for:

Revision as of 18:37, 5 March 2019

Desmoid tumor Microchapters

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Differentiating Desmoid tumor from other Diseases

Epidemiology and Demographics

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Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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

Clinical indications for performing molecular testing

  • Molecular testing for Desmoid Tumor is done in order to:
    • Assist (and in some cases, confirm) the initial diagnosis of desmoid tumor
    • Distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
    • Help in determining treatment options
    • Confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

Significance of Molecular Testing

  • Molecular testing in desmoid tumor has following significance:
    • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of desmoid tumor
    • Result can help to exclude other tumors having similar histological features
    • It can help in determining the prognosis of the patient
    • Test results may help in making treatment decisions in some cases
Characteristic features of desmoid tumors on immunohistochemistry and relevant antibodies
Other diagnostic tests Associated characteristics features
Immunohistochemistry

(aids histologic diagnosis)[1]

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

Reference

  1. 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.

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