Angiomyolipoma pathophysiology: Difference between revisions
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*plump [[spindle cells]] (-myo) | *plump [[spindle cells]] (-myo) | ||
*[[adipose tissue]] (-lipoma) | *[[adipose tissue]] (-lipoma) | ||
==Genetics== | |||
Angiomyolipoma is caused by a defect in the ''TSC1'' and ''TSC2'' gene. | Angiomyolipoma is caused by a defect in the ''TSC1'' and ''TSC2'' gene. | ||
==Associated Conditions== | |||
Diseases associated with angiomyolipoma include: | Diseases associated with angiomyolipoma include: | ||
*[[von Hippel-Lindau syndrome]] | *[[von Hippel-Lindau syndrome]] | ||
*[[Tuberous sclerosis]] | *[[Tuberous sclerosis]] | ||
==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>]] | ||
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*Epithelioid angiomyolipoma | *Epithelioid angiomyolipoma | ||
There is a special variant called an epithelioid angiomyolipoma, composed of more plump, epithelial looking cells, often with nuclear atypia, that have a described risk of malignant behaviour. | There is a special variant called an epithelioid angiomyolipoma, composed of more plump, epithelial looking cells, often with nuclear atypia, that have a described risk of malignant behaviour. | ||
==Microscopic Pathology== | |||
Microscopic features of angiomyolipoma: | Microscopic features of angiomyolipoma: | ||
*Smooth muscle | *Smooth muscle | ||
Revision as of 19:11, 29 September 2015
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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]
Overview
On gross pathology, well circumscribed and uniform yellow mass is characteristic finding of angiomyolipoma.
Pathophysiology
Three components of an angiomyolipoma include:
- Vascular cells
- Immature smooth muscle cells
- Fat cells
They are derived from a common progenitor cell that suffered the common second hit mutation. Angiomyolipomas are members of the perivascular epithelioid cells tumor group (PEComas) and are composed of variable amounts of three components:
- blood vessels (-angio)
- plump spindle cells (-myo)
- adipose tissue (-lipoma)
Genetics
Angiomyolipoma is caused by a defect in the TSC1 and TSC2 gene.
Associated Conditions
Diseases associated with angiomyolipoma include:
Gross Pathology
On gross pathology, well circumscribed and uniform yellow mass are characteristic findings of angiomyolipoma.
Variants
- Epithelioid angiomyolipoma
There is a special variant called an epithelioid angiomyolipoma, composed of more plump, epithelial looking cells, often with nuclear atypia, that have a described risk of malignant behaviour.
Microscopic Pathology
Microscopic features of angiomyolipoma:
- Smooth muscle
- Adipose tissue - not always present[2] - key feature
- Abundant blood vessels
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_HMB-45_immunostain.JPG)
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Cytologic
Cytologic features of angiomyolipoma include:[2]
Immunohistochemistry
Immunohistochemistry markers of angiomyolipoma include:
- Melanocytic markers positive[3]
- HMB-45 positive in all cases (15/15)[4]
- Melan A positive in ~87% of cases (13/15)
- Epithelial markers negative[3]
- EMA
- AE1/AE3
- SMA positive
- CD117 positive/negative
- Ki-67:[5]
- Epithelioid variant of angiomyolipoma positive
- Conventional angiomyolipoma negative
References
- ↑ Image courtesy of Dr Andrew Ryan. Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
- ↑ 2.0 2.1 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) - ↑ 3.0 3.1 Template:Ref GUP
- ↑ 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.