Angiomyolipoma pathophysiology: Difference between revisions

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==Overview==
==Overview==
On [[gross pathology]], well circumscribed and uniform yellow mass is characteristic finding of angiomyolipoma. The components of an angiomyolipoma include vascular cells, immature [[smooth muscle cells]] and fat cells. Angiomyolipoma is caused by a defect in ''TSC1'' [[gene]]. Diseases associated with angiomyolipoma include [[von Hippel-Lindau syndrome]] and [[tuberous sclerosis]]. Cytologic features of angiomyolipoma include round nuclei and bland chromatin. Immunohistochemistry markers of angiomyolipoma include positive melanocytic markers.
On [[gross pathology]], well circumscribed and uniform yellow [[mass]] is characteristic finding of [[angiomyolipoma]]. The components of an [[angiomyolipoma]] include vascular cells, immature [[smooth muscle cells]] and [[fat]] [[Cell (biology)|cells]]. [[Angiomyolipoma]] is caused by a defect in ''[[TSC1]]'' [[gene]]. Diseases associated with [[angiomyolipoma]] include [[von Hippel-Lindau syndrome]] and [[tuberous sclerosis]]. Cytologic features of [[angiomyolipoma]] include round nuclei and bland [[chromatin]]. [[Immunohistochemistry]] markers of [[angiomyolipoma]] include positive [[Melanoma|melanocytic]] markers.


==Pathophysiology==
==Pathophysiology==
Three components of an angiomyolipoma include:
 
*Vascular cells
=== Pathogenesis ===
*Immature [[smooth muscle cells]]
 
*Fat cells
*[[Angiomyolipoma]] is a [[tumor]] of the [[kidney]] which is composed of three different cells. The cells of [[angiomyolipoma]] include the following:  
Angiomyolipoma is derived from a common [[progenitor cell]] that suffered the common second hit mutation. [[Angiomyolipoma]]s are members of the perivascular epithelioid cells tumor group ([[PEComa]]s) and are composed of variable amounts of these three components.
**[[Smooth muscle cell|Smooth muscle]] like [[Cells (biology)|cells]]
**[[Adipocyte]] like [[Cells (biology)|cells]]
**[[Epithelioid cell|Epithelioid cells]]
* The [[Cell (biology)|cells]] composing [[angiomyolipoma]] are [[pericytes]] originated not [[endothelial]].<ref name="pmid24920756">{{cite journal| author=Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T et al.| title=Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. | journal=Am J Physiol Renal Physiol | year= 2014 | volume= 307 | issue= 5 | pages= F560-70 | pmid=24920756 | doi=10.1152/ajprenal.00569.2013 | pmc=4868369 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24920756  }}</ref>
 
*[[Angiomyolipoma]] can be a sporadic [[mutation]] or part of [[tuberous sclerosis]] [[syndrome]].
* There are different variants of [[angiomyolipoma]] that are differentiated by [[biopsy]]. These variants include:<ref name="pmid18635231">{{cite journal| author=Lane BR, Aydin H, Danforth TL, Zhou M, Remer EM, Novick AC et al.| title=Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid. | journal=J Urol | year= 2008 | volume= 180 | issue= 3 | pages= 836-43 | pmid=18635231 | doi=10.1016/j.juro.2008.05.041 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18635231  }}</ref>
** Classic variant
**[[Epithelioid]] variant
**[[Cystic]] variant which is characterized by [[solid]] and [[cystic]] regions.


==Genetics==
==Genetics==
Angiomyolipoma is caused by a defect in:
[[Genes]] involved in the [[pathogenesis]] of [[angiomyolipoma]] include:<ref name="pmid200435113">{{cite journal| author=Walsh SN, Sangüeza OP| title=PEComas: a review with emphasis on cutaneous lesions. | journal=Semin Diagn Pathol | year= 2009 | volume= 26 | issue= 3 | pages= 123-30 | pmid=20043511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20043511  }}</ref><ref name="pmid18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }}</ref>
 
 


*''[[TSC1]]'' [[gene]]
*''[[TSC1]]'' [[gene]]
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==Associated Conditions==
==Associated Conditions==
Diseases associated with angiomyolipoma include:
Conditions associated with [[angiomyolipoma]] include:<ref name="pmid27678300">{{cite journal| author=Warncke JC, Brodie KE, Grantham EC, Catarinicchia SP, Tong S, Kondo KL et al.| title=Pediatric Renal Angiomyolipomas in Tuberous Sclerosis Complex. | journal=J Urol | year= 2017 | volume= 197 | issue= 2 | pages= 500-506 | pmid=27678300 | doi=10.1016/j.juro.2016.09.082 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27678300  }}</ref><ref name="pmid20043511">{{cite journal| author=Walsh SN, Sangüeza OP| title=PEComas: a review with emphasis on cutaneous lesions. | journal=Semin Diagn Pathol | year= 2009 | volume= 26 | issue= 3 | pages= 123-30 | pmid=20043511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20043511  }}</ref><ref name="pmid9046419">{{cite journal| author=Sugimoto M, Takamura S| title=[Renal angiomyolipoma and renal cell carcinoma associated with tuberous sclerosis: a case report]. | journal=Hinyokika Kiyo | year= 1997 | volume= 43 | issue= 1 | pages= 33-5 | pmid=9046419 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9046419  }}</ref><ref name="pmid200435114">{{cite journal| author=Walsh SN, Sangüeza OP| title=PEComas: a review with emphasis on cutaneous lesions. | journal=Semin Diagn Pathol | year= 2009 | volume= 26 | issue= 3 | pages= 123-30 | pmid=20043511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20043511  }}</ref>
 
*[[von Hippel-Lindau syndrome]]
*[[von Hippel-Lindau syndrome]]
*[[Tuberous sclerosis]]
*[[Tuberous sclerosis]]


==Gross Pathology==
==Gross Pathology==
On gross pathology, well circumscribed and uniform yellow mass are characteristic findings of angiomyolipoma.
On [[gross pathology]], well circumscribed and uniform yellow [[mass]] are characteristic findings of [[angiomyolipoma]].
[[File:Angiomyolipoma-7.JPG|thumb|none|200px|Angiomyolipoma Gross Pathology<ref>Image courtesy of Dr Andrew Ryan. [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/angiomyolipoma-7]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]]
[[File:Angiomyolipoma-7.JPG|thumb|none|200px|Angiomyolipoma Gross Pathology<ref>Image courtesy of Dr Andrew Ryan. [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/angiomyolipoma-7]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]]


==Microscopic Pathology==
==Microscopic Pathology==
Microscopic features of angiomyolipoma:<ref name=pmid15584043>{{Cite journal  | last1 = Crapanzano | first1 = JP. | title = Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases. | journal = Diagn Cytopathol | volume = 32 | issue = 1 | pages = 53-7 | month = Jan | year = 2005 | doi = 10.1002/dc.20179 | PMID = 15584043 }}</ref>
On [[microscopic]] [[Histopathology|histopathological]] analysis the following are characteristic findings of [[angiomyolipoma]]:<ref name="pmid15584043">{{Cite journal  | last1 = Crapanzano | first1 = JP. | title = Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases. | journal = Diagn Cytopathol | volume = 32 | issue = 1 | pages = 53-7 | month = Jan | year = 2005 | doi = 10.1002/dc.20179 | PMID = 15584043 }}</ref>
*[[Smooth muscle]]s
*[[Smooth muscle]]s
*[[Adipose tissue]]
*[[Adipose tissue]]
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</gallery>
</gallery>
====Variants====
====Variants====
*Epithelioid angiomyolipoma
Epithelioid angiomyolipoma
**There is a special variant called an epithelioid angiomyolipoma, composed of epithelial looking cells, often with nuclear atypia
 
*There is a special variant called an epithelioid angiomyolipoma, composed of epithelial looking cells, often with nuclear atypia


===Cytologic===
===Cytologic===
Cytologic features of angiomyolipoma include:<ref name=pmid15584043>{{Cite journal  | last1 = Crapanzano | first1 = JP. | title = Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases. | journal = Diagn Cytopathol | volume = 32 | issue = 1 | pages = 53-7 | month = Jan | year = 2005 | doi = 10.1002/dc.20179 | PMID = 15584043 }}</ref>
Cytologic features of angiomyolipoma include:<ref name="pmid15584043">{{Cite journal  | last1 = Crapanzano | first1 = JP. | title = Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases. | journal = Diagn Cytopathol | volume = 32 | issue = 1 | pages = 53-7 | month = Jan | year = 2005 | doi = 10.1002/dc.20179 | PMID = 15584043 }}</ref>
*[[Nuclei]] - round/ovoid
*[[Nuclei]] - round/ovoid
*[[Chromatin]] - bland
*[[Chromatin]] - bland


===Immunohistochemistry===
===Immunohistochemistry===
Immunohistochemistry markers of angiomyolipoma include:
[[Immunohistochemistry]] markers of [[angiomyolipoma]] include:
*Melanocytic markers positive<ref name=Ref_GUP324>{{Ref GUP|324}}</ref>
*[[Melanoma|Melanocytic]] markers positive<ref name="Ref_GUP324">{{Ref GUP|324}}</ref><ref name="pmid180801392">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }}</ref><ref name="pmid200435112">{{cite journal| author=Walsh SN, Sangüeza OP| title=PEComas: a review with emphasis on cutaneous lesions. | journal=Semin Diagn Pathol | year= 2009 | volume= 26 | issue= 3 | pages= 123-30 | pmid=20043511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20043511  }}</ref>
**HMB-45 positive in all cases (15/15)<ref name=pmid23932749>{{Cite journal  | last1 = Esheba | first1 = Gel S. | last2 = Esheba | first2 = Nel S. | title = Angiomyolipoma of the kidney: clinicopathological and immunohistochemical study. | journal = J Egypt Natl Canc Inst | volume = 25 | issue = 3 | pages = 125-34 | month = Sep | year = 2013 | doi = 10.1016/j.jnci.2013.05.002 | PMID = 23932749 }}
**[[HMB-45]] positive in all cases (15/15)<ref name="pmid23932749">{{Cite journal  | last1 = Esheba | first1 = Gel S. | last2 = Esheba | first2 = Nel S. | title = Angiomyolipoma of the kidney: clinicopathological and immunohistochemical study. | journal = J Egypt Natl Canc Inst | volume = 25 | issue = 3 | pages = 125-34 | month = Sep | year = 2013 | doi = 10.1016/j.jnci.2013.05.002 | PMID = 23932749 }}
</ref>
</ref>
**Melan A positive in ~87% of cases (13/15)
**[[Melanin|Melan A]] positive in ~87% of cases (13/15)
*Epithelial markers negative<ref name=Ref_GUP324>{{Ref GUP|324}}</ref>
*[[Epithelial]] markers negative<ref name="Ref_GUP324">{{Ref GUP|324}}</ref>
**EMA
**EMA
**AE1/AE3
**AE1/AE3
*SMA positive
*[[SMA]] positive
*CD117 positive/negative
*[[CD117]] positive/negative
*Ki-67:<ref name=pmid18839327>{{Cite journal  | last1 = Ooi | first1 = SM. | last2 = Vivian | first2 = JB. | last3 = Cohen | first3 = RJ. | title = The use of the Ki-67 marker in the pathological diagnosis of the epithelioid variant of renal angiomyolipoma. | journal = Int Urol Nephrol | volume = 41 | issue = 3 | pages = 559-65 | month =  | year = 2009 | doi = 10.1007/s11255-008-9473-1 | PMID = 18839327 }}</ref>
*[[Ki-67 (Biology)|Ki]]-67:<ref name="pmid18839327">{{Cite journal  | last1 = Ooi | first1 = SM. | last2 = Vivian | first2 = JB. | last3 = Cohen | first3 = RJ. | title = The use of the Ki-67 marker in the pathological diagnosis of the epithelioid variant of renal angiomyolipoma. | journal = Int Urol Nephrol | volume = 41 | issue = 3 | pages = 559-65 | month =  | year = 2009 | doi = 10.1007/s11255-008-9473-1 | PMID = 18839327 }}</ref>
**Epithelioid variant of [[angiomyolipoma]] positive
**[[Epithelioid]] variant of [[angiomyolipoma]] positive
**Conventional angiomyolipoma negative
**Conventional [[angiomyolipoma]] negative


==References==
==References==

Latest revision as of 15:01, 5 November 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [3], Faizan Sheraz, M.D. [4], Rekha, M.D.

Overview

On gross pathology, well circumscribed and uniform yellow mass is characteristic finding of angiomyolipoma. The components of an angiomyolipoma include vascular cells, immature smooth muscle cells and fat cells. Angiomyolipoma is caused by a defect in TSC1 gene. Diseases associated with angiomyolipoma include von Hippel-Lindau syndrome and tuberous sclerosis. Cytologic features of angiomyolipoma include round nuclei and bland chromatin. Immunohistochemistry markers of angiomyolipoma include positive melanocytic markers.

Pathophysiology

Pathogenesis

Genetics

Genes involved in the pathogenesis of angiomyolipoma include:[3][4]


Associated Conditions

Conditions associated with angiomyolipoma include:[5][6][7][8]

Gross Pathology

On gross pathology, well circumscribed and uniform yellow mass are characteristic findings of angiomyolipoma.

Angiomyolipoma Gross Pathology[9]

Microscopic Pathology

On microscopic histopathological analysis the following are characteristic findings of angiomyolipoma:[10]

  • Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

    Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

  • Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

    Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

  • Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

    Histopathologic slide of renal angiomyolipoma. Nephrectomy specimen. H & E stain.[11]

  • Histopathologic image of renal angiomyolipoma. Nephrectomy specimen. HMB-45 immunostain.[11]

    Histopathologic image of renal angiomyolipoma. Nephrectomy specimen. HMB-45 immunostain.[11]

Variants

Epithelioid angiomyolipoma

  • There is a special variant called an epithelioid angiomyolipoma, composed of epithelial looking cells, often with nuclear atypia

Cytologic

Cytologic features of angiomyolipoma include:[10]

Immunohistochemistry

Immunohistochemistry markers of angiomyolipoma include:

References

  1. ↑ Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T; et al. (2014). "Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy". Am J Physiol Renal Physiol. 307 (5): F560–70. doi:10.1152/ajprenal.00569.2013. PMC 4868369. PMID 24920756.
  2. ↑ Lane BR, Aydin H, Danforth TL, Zhou M, Remer EM, Novick AC; et al. (2008). "Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid". J Urol. 180 (3): 836–43. doi:10.1016/j.juro.2008.05.041. PMID 18635231.
  3. ↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
  4. ↑ Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F (2008). "PEComas: the past, the present and the future". Virchows Arch. 452 (2): 119–32. doi:10.1007/s00428-007-0509-1. PMC 2234444. PMID 18080139.
  5. ↑ Warncke JC, Brodie KE, Grantham EC, Catarinicchia SP, Tong S, Kondo KL; et al. (2017). "Pediatric Renal Angiomyolipomas in Tuberous Sclerosis Complex". J Urol. 197 (2): 500–506. doi:10.1016/j.juro.2016.09.082. PMID 27678300.
  6. ↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
  7. ↑ Sugimoto M, Takamura S (1997). "[Renal angiomyolipoma and renal cell carcinoma associated with tuberous sclerosis: a case report]". Hinyokika Kiyo. 43 (1): 33–5. PMID 9046419.
  8. ↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
  9. ↑ Image courtesy of Dr Andrew Ryan. Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
  10. ↑ 10.0 10.1 Crapanzano, JP. (2005). "Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases". Diagn Cytopathol. 32 (1): 53–7. doi:10.1002/dc.20179. PMID 15584043. Unknown parameter |month= ignored (help)
  11. ↑ 11.0 11.1 11.2 11.3 http://librepathology.org/wiki/index.php/Angiomyolipoma
  12. ↑ 12.0 12.1 Template:Ref GUP
  13. ↑ Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F (2008). "PEComas: the past, the present and the future". Virchows Arch. 452 (2): 119–32. doi:10.1007/s00428-007-0509-1. PMC 2234444. PMID 18080139.
  14. ↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
  15. ↑ Esheba, Gel S.; Esheba, Nel S. (2013). "Angiomyolipoma of the kidney: clinicopathological and immunohistochemical study". J Egypt Natl Canc Inst. 25 (3): 125–34. doi:10.1016/j.jnci.2013.05.002. PMID 23932749. Unknown parameter |month= ignored (help)
  16. ↑ Ooi, SM.; Vivian, JB.; Cohen, RJ. (2009). "The use of the Ki-67 marker in the pathological diagnosis of the epithelioid variant of renal angiomyolipoma". Int Urol Nephrol. 41 (3): 559–65. doi:10.1007/s11255-008-9473-1. PMID 18839327.

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