Desmoid tumor laboratory tests: Difference between revisions
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==Overview== | ==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. | [[Immunohistochemical staining]] of [[spindle cells]] of [[Desmoid tumor|desmoid tumors]] are positive for nuclear [[beta-catenin]], [[vimentin]], alpha [[smooth muscle]] [[actin]], [[muscle]] [[Actin filament|actin]] and negative for [[desmin]], cytokeratins, and [[S-100]]. [[Antibodies]] like [[smooth muscle]] [[actin]], [[desmin]] and KIT may be helpful in distinguishing [[Desmoid tumor|desmoid tumors]] from other [[tumors]]. In addition, [[APC]] [[Germline mutation|germline mutations]] may be performed in [[patients]] with sporadic [[Desmoid tumor|desmoid tumors]] with no [[clinical]] or famililal [[signs]] of [[FAP]] but having a [[family history]] of [[colorectal carcinoma]] in at least one [[Family|family member]]. | ||
== | ==Laboratory tests== | ||
* | *[[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) | **In situ hybridization technique, such as [[Fluorescence in situ hybridization|fluorescence in situ hybridization (FISH)]] | ||
**Immunohistochemistry (IHC) | **[[Immunohistochemistry|Immunohistochemistry (IHC)]] | ||
**Next-generation sequencing (NGS) | **[[Sequencing by hybridization|Next-generation sequencing (NGS)]] | ||
**Polymerase chain reaction (PCR) | **[[Polymerase chain reaction|Polymerase chain reaction (PCR)]] | ||
**Comparative genomic hybridization (CGH) | **[[Comparative genomic hybridization|Comparative genomic hybridization (CGH)]] | ||
**Karyotyping including spectral karyotyping | **[[Karyotyping]] including spectral [[karyotyping]] | ||
**mRNA analysis | **[[mRNA]] [[analysis]] | ||
**Tissue microarrays (TMAs) | **[[Tissue (biology)|Tissue]] microarrays (TMAs) | ||
**Southern blot test | **[[Southern blot|Southern blot test]] | ||
**Northern blot test | **[[Northern blot|Northern blot test]] | ||
**Western blot test | **[[Western blot|Western blot test]] | ||
**Eastern 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, [[Confirmatory factor analysis|confirm]]) the initial [[diagnosis]] of [[desmoid tumor]] | |||
**Distinguish other [[tumors]]/[[conditions]] that have similar [[histological]] [[Features (pattern recognition)|features]], when examined by a [[pathologist]] under the [[microscope]] | |||
**Help in determining treatment options | |||
**[[Confirmatory factor analysis|Confirm]] [[Recurrence plot|recurrence]] of the [[tumor]]: [[Tumor]] [[Recurrence plot|recurrence]] can either be at the original [[tumor]] site, or at a distant [[Location parameter|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, [[Confirmatory factor analysis|confirm]] the [[diagnosis]] of [[desmoid tumor]] | |||
**[[Result]] can help to exclude other [[tumors]] having similar [[histological]] [[Features (pattern recognition)|features]] | |||
**It can help in determining the [[prognosis]] of the [[patient]] | |||
**[[Test]] results may help in making treatment decisions in some cases | |||
{| class="wikitable" | {| class="wikitable" | ||
|+Characteristic features of desmoid tumors on immunohistochemistry and relevant antibodies | |+Characteristic features of desmoid tumors on immunohistochemistry and relevant antibodies | ||
!Other diagnostic tests | ! style="background:#4479BA; color: #FFFFFF;" align="center" + |Other diagnostic tests | ||
!Associated characteristics features | ! style="background:#4479BA; color: #FFFFFF;" align="center" + |Associated characteristics features | ||
|- | |- | ||
|'''Immunohistochemistry''' | |style="background:#DCDCDC;" align="center" + |'''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 (pattern recognition)|features]]: | ||
*Positive for: | *Positive for: | ||
**Nuclear beta-catenin (regardless of the site, 90% of desmoids show nuclear reactivity, relatively high specificity) | **Nuclear [[beta-catenin]] (regardless of the site, 90% of [[Desmoid tumor|desmoids]] show nuclear reactivity, relatively high [[Specificity (tests)|specificity]]) | ||
**Vimentin | **[[Vimentin]] | ||
**Alpha smooth muscle actin | **Alpha [[smooth muscle]] [[actin]] | ||
**Muscle actin | **[[Muscle]] [[actin]] | ||
*Negative for: | *Negative for: | ||
**Desmin | **[[Desmin]] | ||
**Cytokeratins | **Cytokeratins | ||
**S-100 | **[[S-100]] | ||
|- | |- | ||
|'''Antibodies''' | |style="background:#DCDCDC;" align="center" + |'''Antibodies''' | ||
|In order to distinguish desmoid tumors from other tumors, following antibodies are often examined: | |In order to distinguish [[Desmoid tumor|desmoid tumors]] from other [[tumors]], following [[antibodies]] are often examined: | ||
*Smooth muscle actin | *[[Smooth muscle]] [[actin]] | ||
*Desmin | *[[Desmin]] | ||
*KIT | *KIT | ||
|- | |- | ||
|'''APC germline mutational analysis''' | |style="background:#DCDCDC;" align="center" + |'''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 | * Sporadic [[desmoid tumor]] [[patients]] with no [[clinical]] or [[familial]] [[signs]] of [[Familial adenomatous polyposis|familial adenomatous polyposis (FAP)]] but having a [[family history]] of [[colorectal carcinoma]] in at least one [[family]] member | ||
|} | |} | ||
Latest revision as of 03:35, 25 March 2019
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Desmoid tumor Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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
- 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
| Other diagnostic tests | Associated characteristics features |
|---|---|
| Immunohistochemistry
(aids histologic diagnosis)[1] |
Spindle cells on immunohistochemical stains show the following features:
|
| Antibodies | In order to distinguish desmoid tumors from other tumors, following antibodies are often examined:
|
| APC germline mutational analysis |
|
Reference
- ↑ 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.