Angiomyolipoma pathophysiology

	Angiomyolipoma Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Angiomyolipoma from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Angiomyolipoma pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Angiomyolipoma pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Angiomyolipoma pathophysiology
CDC on Angiomyolipoma pathophysiology
Angiomyolipoma pathophysiology in the news
Blogs on Angiomyolipoma pathophysiology
Directions to Hospitals Treating Angiomyolipoma
Risk calculators and risk factors for Angiomyolipoma pathophysiology

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

Angiomyolipoma is a tumor of the kidney which is composed of three different cells. The cells of angiomyolipoma include the following:
- Smooth muscle like cells
- Adipocyte like cells
- Epithelioid cells
The cells composing angiomyolipoma are pericytes originated not endothelial.^[1]

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:^[2]
- Classic variant
- Epithelioid variant
- Cystic variant which is characterized by solid and cystic regions.

Genetics

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

TSC1 gene

TSC2 gene

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.

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 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]

Nuclei - round/ovoid
Chromatin - bland

Immunohistochemistry

Immunohistochemistry markers of angiomyolipoma include:

Melanocytic markers positive^[12]^[13]^[14]
- HMB-45 positive in all cases (15/15)^[15]
- Melan A positive in ~87% of cases (13/15)
Epithelial markers negative^[12]
- EMA
- AE1/AE3
SMA positive
CD117 positive/negative
Ki-67:^[16]
- Epithelioid variant of angiomyolipoma positive
- Conventional angiomyolipoma negative

References

↑ 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.
↑ 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.
↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
↑ 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.
↑ 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.
↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
↑ 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.
↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
↑ Image courtesy of Dr Andrew Ryan. Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
↑ ^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)
↑ ^11.0 ^11.1 ^11.2 ^11.3 http://librepathology.org/wiki/index.php/Angiomyolipoma
↑ ^12.0 ^12.1 Template:Ref GUP
↑ 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.
↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
↑ 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)
↑ 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.

Template:WikiDoc Sources

[pmid24920756-1] 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.

[pmid18635231-2] 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.

[pmid200435113-3] Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.

[pmid18080139-4] 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.

[pmid27678300-5] 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.

[pmid20043511-6] Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.

[pmid9046419-7] 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.

[pmid200435114-8] 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

[pmid15584043-10] 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)

[aaa-11] 11.0 ^11.1 ^11.2 ^11.3 http://librepathology.org/wiki/index.php/Angiomyolipoma

[Ref_GUP324-12] 12.0 ^12.1 Template:Ref GUP

[pmid180801392-13] 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.

[pmid200435112-14] Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.

[pmid23932749-15] 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)

[pmid18839327-16] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]