Glomus tumor pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
Glomus tumor arises from modified smooth muscle cells of glomus body (or glomus apparatus). | Glomus tumor arises from modified smooth muscle cells of the glomus body (or glomus apparatus). The glomus body is a neuromyoarterial plexus in the dermis of skin that is normally involved in thermoregulation.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> The gene involved in the pathogenesis of familial glomangioma is [[''glomulin'']] ([[''GLMN'']]) gene.<ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> On gross pathology, small (usually less than 1 cm), bluish or whitish, well circumscribed, solitary nodules are characteristic findings of glomus tumor.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> On microscopic histopathological analysis, branching vascular channels and aggregates of specialised glomus cells are characteristic findings of glomus tumor.<ref name=pm>Glomus tumor. Radiopedia. http://radiopaedia.org/articles/glomangioma Accessed on January 7, 2016.</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
*Glomus tumor arises from modified smooth muscle cells of glomus body (or glomus apparatus).<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> | *Glomus tumor arises from modified smooth muscle cells of the glomus body (or glomus apparatus).<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> | ||
* | *The glomus body is a neuromyoarterial plexus in the dermis of skin that is normally involved in thermoregulation. | ||
==Genetics== | ==Genetics== | ||
*Familial glomangioma is a variant of glomus tumor where the patient presents with multiple glomus tumors.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | *Familial glomangioma is a variant of glomus tumor where the patient presents with multiple glomus tumors.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | ||
* | *The gene involved in the pathogenesis of familial glomangioma is [[''glomulin'']] ([[''GLMN'']]) gene.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | ||
**Mutations are associated with multiple deletions in the glomulin gene of chromosome 1p21-22.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | **Mutations are associated with multiple deletions in the glomulin gene of chromosome 1p21-22.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | ||
**Inheritance is autosomal dominant with incomplete penetrance.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | **Inheritance is autosomal dominant with incomplete penetrance.<ref name=rs>Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.</ref> <ref name="pmid18788860">{{cite journal| author=Gombos Z, Zhang PJ| title=Glomus tumor. | journal=Arch Pathol Lab Med | year= 2008 | volume= 132 | issue= 9 | pages= 1448-52 | pmid=18788860 | doi=10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18788860 }} </ref> | ||
==Associated Conditions== | ==Associated Conditions== | ||
*Glomus tumors of the fingers and toes may be associated with neurofibromatosis type 1. | *Glomus tumors of the fingers and toes may be associated with neurofibromatosis type 1.<ref name="KumarEmnett2014">{{cite journal|last1=Kumar|first1=Monique G.|last2=Emnett|first2=Ryan J.|last3=Bayliss|first3=Susan J.|last4=Gutmann|first4=David H.|title=Glomus tumors in individuals with neurofibromatosis type 1|journal=Journal of the American Academy of Dermatology|volume=71|issue=1|year=2014|pages=44–48|issn=01909622|doi=10.1016/j.jaad.2014.01.913}}</ref><ref name="StewartSloan2010">{{cite journal|last1=Stewart|first1=D. R.|last2=Sloan|first2=J. L.|last3=Yao|first3=L.|last4=Mannes|first4=A. J.|last5=Moshyedi|first5=A.|last6=Richard Lee|first6=C.-C.|last7=Sciot|first7=R.|last8=De Smet|first8=L.|last9=Mautner|first9=V.-F.|last10=Legius|first10=E.|title=Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1|journal=Journal of Medical Genetics|volume=47|issue=8|year=2010|pages=525–532|issn=0022-2593|doi=10.1136/jmg.2009.073965}}</ref> | ||
==Gross Pathology== | ==Gross Pathology== |
Revision as of 14:07, 8 January 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Soujanya Thummathati, MBBS [2]
Overview
Glomus tumor arises from modified smooth muscle cells of the glomus body (or glomus apparatus). The glomus body is a neuromyoarterial plexus in the dermis of skin that is normally involved in thermoregulation.[1] The gene involved in the pathogenesis of familial glomangioma is ''glomulin'' (''GLMN'') gene.[2] On gross pathology, small (usually less than 1 cm), bluish or whitish, well circumscribed, solitary nodules are characteristic findings of glomus tumor.[1] On microscopic histopathological analysis, branching vascular channels and aggregates of specialised glomus cells are characteristic findings of glomus tumor.[3]
Pathophysiology
- Glomus tumor arises from modified smooth muscle cells of the glomus body (or glomus apparatus).[1]
- The glomus body is a neuromyoarterial plexus in the dermis of skin that is normally involved in thermoregulation.
Genetics
- Familial glomangioma is a variant of glomus tumor where the patient presents with multiple glomus tumors.[1] [2]
- The gene involved in the pathogenesis of familial glomangioma is ''glomulin'' (''GLMN'') gene.[1] [2]
Associated Conditions
Gross Pathology
- On gross pathology, small (usually less than 1 cm), bluish or whitish, well circumscribed, solitary nodules are characteristic findings of glomus tumor.[1]
- Multiple glomus tumors are usually less circumscribed and less solid than the solitary glomus tumors.[2]
Microscopic Findings
- On microscopic histopathological analysis, characteristic findings of glomus tumor include:[3]
- Branching vascular channels
- Aggregates of specialized glomus cells
- Inconspicuous to well-defined nucleoli
-
Intermediate magnification micrograph of a glomus tumor. H&E stain.[6]
-
High magnification micrograph of a glomus tumor. H&E stain.[6]
-
Very high magnification micrograph of a glomus tumor. H&E stain.[6]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Glomus tumor. Wikipedia. https://en.wikipedia.org/wiki/Glomus_tumor Accessed on January 7, 2016.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Gombos Z, Zhang PJ (2008). "Glomus tumor". Arch Pathol Lab Med. 132 (9): 1448–52. doi:10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2. PMID 18788860.
- ↑ 3.0 3.1 Glomus tumor. Radiopedia. http://radiopaedia.org/articles/glomangioma Accessed on January 7, 2016.
- ↑ Kumar, Monique G.; Emnett, Ryan J.; Bayliss, Susan J.; Gutmann, David H. (2014). "Glomus tumors in individuals with neurofibromatosis type 1". Journal of the American Academy of Dermatology. 71 (1): 44–48. doi:10.1016/j.jaad.2014.01.913. ISSN 0190-9622.
- ↑ Stewart, D. R.; Sloan, J. L.; Yao, L.; Mannes, A. J.; Moshyedi, A.; Richard Lee, C.-C.; Sciot, R.; De Smet, L.; Mautner, V.-F.; Legius, E. (2010). "Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1". Journal of Medical Genetics. 47 (8): 525–532. doi:10.1136/jmg.2009.073965. ISSN 0022-2593.
- ↑ 6.0 6.1 6.2 Glomus tumor. Wikimedia commons. https://commons.wikimedia.org/wiki/File:Glomus_tumour_-_very_high_mag.jpg#/media/File:Glomus_tumour_-_intermed_mag.jpg Accessed on January 7, 2016.