Difference between revisions of "Paraganglioma"

From Libre Pathology
Jump to navigation Jump to search
(wikify, redo refs)
 
(30 intermediate revisions by 3 users not shown)
Line 1: Line 1:
'''Paraganglioma''' is a rare tumour arising from the paraganglion.
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Paraganglioma_-_very_high_mag.jpg
| Width      =
| Caption    = Paraganglioma. [[H&E stain]].
| Synonyms  =
| Micro      = Zellballen (nests of cells), fibrovascular septae, salt-and-pepper nuclei, +/-hemorrhage (very common)
| Subtypes  =
| LMDDx      = [[neuroendocrine tumour]], [[pheochromocytoma]] (paraganglioma of the [[adrenal gland]]), [[gangliocytic paraganglioma]]
| Stains    =
| IHC        = chromogranin +ve, synaptophysin +ve, CD56 +ve
| EM        =
| Molecular  =
| IF        =
| Gross      = dusky colour
| Grossing  =
| Site      = abdomen (adrenal gland paraganglioma = pheochromocytoma), head and neck (carotid body tumour)
| Assdx      =
| Syndromes  = [[von Hippel Lindau]], hereditary paragangliomatosis, [[neurofibromatosis]] type 1 (von Recklinghausen disease), [[MEN 2A]], [[MEN 2B]], [[Carney-Stratakis syndrome]], [[Carney triad]]
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence = uncommon
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = usually good, rarely malignant
| Other      =
| ClinDDx    =
| Tx        =
}}
'''Paraganglioma''' is a rare tumour arising from the paraganglion.  A paraganglioma arising in the [[adrenal gland]] is known as a [[pheochromocytoma]].


==General==
==General==
*Definition: tumour of paraganglion.  
*Definition: tumour of paraganglion.  
**Can be sympathetic or parasympathetic.
**Can be sympathetic or parasympathetic.
*Most common paraganglioma = pheochromocytoma.<ref name=Ref_EP_327>{{Ref EP|327}}</ref>
**Locations of paraganglia
**Head & neck most common site - after abdomen.
***Paravertebral (retroperitoneal)
*Carotid body tumour = paraganglioma of carotid body.
***Near the large blood vessels of the head and neck and base of skull
***Scattered in other tissues
*Most common paraganglioma = [[pheochromocytoma]].<ref name=Ref_EP_327>{{Ref EP|327}}</ref>
**Sites relate to locations of paraganglia
****Head & neck most common - neck, ear, carotid body, base of skull
****Retroperitoneal/abdomen
****Bladder


==Epidemiology==
Special site names
*Very rare
*Carotid body tumour = paraganglioma of carotid body - very vascular - right near a major artery. Don't stick a needle in it.
*Rarely malignant
*Glomus tympanicum tumor = paraganglioma of the middle ear - pulsitile tintinitis and conductive hearing loss.
*Familial syndromes assoc. with paragangliomas.<ref name=Ref_EP328>{{Ref EP|328}}</ref>
*Pheochromocytoma - basically a 'paraganglioma' in the adrenal medulla
**[[von Hippel Lindau]].
**Hereditary paragangliomatosis.
**[[Neurofibromatosis]] type 1 (von Recklinghausen disease).
**[[MEN 2A]].
**[[MEN 2B]].


==Clinical==
===Epidemiology===
*Rare.
*Rarely malignant.
 
Familial syndromes associated with paragangliomas:<ref name=Ref_EP328>{{Ref EP|328}}</ref>
*[[von Hippel Lindau]].
*Hereditary paragangliomatosis.
*[[Neurofibromatosis]] type 1 (von Recklinghausen disease).
*[[MEN 2A]].
*[[MEN 2B]].
*[[Carney-Stratakis syndrome]] - [[GIST]]s and paraganglioma.<ref>{{Cite journal  | last1 = Blay | first1 = JY. | last2 = Blomqvist | first2 = C. | last3 = Bonvalot | first3 = S. | last4 = Boukovinas | first4 = I. | last5 = Casali | first5 = PG. | last6 = De Alava | first6 = E. | last7 = Dei Tos | first7 = AP. | last8 = Dirksen | first8 = U. | last9 = Duffaud | first9 = F. | title = Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. | journal = Ann Oncol | volume = 23 Suppl 7 | issue =  | pages = vii49-55 | month = Oct | year = 2012 | doi = 10.1093/annonc/mds252 | PMID = 22997454 | url = http://annonc.oxfordjournals.org/content/23/suppl_7/vii49.full }}</ref>
*[[Succinate dehydrogenase|SDH]] mutation associated (SDHB, SDHC and SDHD).<ref name=pmid24523625>{{Cite journal  | last1 = Lefebvre | first1 = M. | last2 = Foulkes | first2 = WD. | title = Pheochromocytoma and paraganglioma syndromes: genetics and management update. | journal = Curr Oncol | volume = 21 | issue = 1 | pages = e8-e17 | month = Feb | year = 2014 | doi = 10.3747/co.21.1579 | PMID = 24523625 }}</ref>
*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome]].<ref name=pmid39705504>{{cite journal |authors=Orrego JJ, Chorny JA |title=Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants |journal=Endocrinol Diabetes Metab Case Rep |volume=2024 |issue=4 |pages= |date=October 2024 |pmid=39705504 |pmc=11737469 |doi=10.1530/EDM-24-0073 |url=}}</ref><ref name=pmid36773955>{{cite journal |authors=Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B |title=Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma |journal=Urology |volume=176 |issue= |pages=106–114 |date=June 2023 |pmid=36773955 |doi=10.1016/j.urology.2022.11.053 |url=}}</ref>
 
Other associations - not proven to be genetic:
*[[Carney triad]].
 
===Clinical===
*10% bilateral, multiple, familial, pediatric and malignant.<ref name=Ref_EP327>{{Ref EP|327}}</ref>
*10% bilateral, multiple, familial, pediatric and malignant.<ref name=Ref_EP327>{{Ref EP|327}}</ref>
**''Not'' quite true... more than 10% are familial - see ''[[pheochromocytoma]]'' article.
==Gross==
*Dusky colour.
Note:
*''Pheo'' (in [[pheochromocytoma]]) is ''dusky''; ''chromo'' is ''colour''.
Image:
*[http://commons.wikimedia.org/wiki/File:Mediastinal_paraganglioma.jpg Mediastinal paraganglioma (WC/AFIP)].


==Microscopic==
==Microscopic==
Features:<ref>{{Ref EP|329-332}}</ref>
Features:<ref>{{Ref EP|329-332}}</ref>
*Resembles pheochromocytoma
*Zellballen - nests of cells - '''key low power feature'''.
**Zellballen (literally: "cell balls") - nests of cells.
**Zellballen is "cell balls" in German.
**Fibrovascular septae.
*Fibrovascular septae and sustentacular cells (structural support cell).
**Finely granular cytoplasm (salt-and-pepper nuclei).
*Finely granular cytoplasm (salt-and-pepper nuclei).
*+/-Hemorrhage - very common.
 
DDx:
*[[Neuroendocrine tumour]] - nests surrounded by stroma/do not touch.
*[[Pheochromocytoma]] - paraganglioma of the [[adrenal gland]].
*[[Gangliocytic paraganglioma]] - has schwannian component and ganglion cells, usu. [[duodenum]].
 
===Images===
Carotid body tumour:
<gallery>
Image:Carotid_body_tumour_2_intermed_mag.jpg | Paraganglioma - intermed. mag. (WC)
Image:Carotid_body_tumour_2_high_mag.jpg | Paraganglioma - high mag. (WC)
Image:Neck Paraganglioma HP CTR (2).jpg|Neck - Paraganglioma - nice Zeballen (SKB)
Image:Neck Paraganglioma CarotidBody MP PA.JPG|Neck Paraganglioma - Carotid Body Tumor (SKB)
Image:Neck Paraganglioma CarotidBody HP PA.JPG|Neck - Paraganglioma - Carotid Body Tumor (SKB)
</gallery>
Duodenal paraganglioma - uncommon location:
<gallery>
Image:Paraganglioma_-_low_mag.jpg | Paraganglioma - low mag. (WC)
Image:Paraganglioma_-_very_high_mag.jpg | Paraganglioma - very high mag. (WC)
Image:Paraganglioma_-_chromo_-_intermed_mag.jpg | Paraganglioma - chromogranin A - intermed. mag. (WC)
Image:Paraganglioma_-_s100_-_very_high_mag.jpg | Paraganglioma - S100 - very high mag. (WC)
</gallery>
Retroperitoneal paraganglioma
<gallery>
Image:Retroperitoneum Paraganglioma 2 MP PA.JPG|Retroperitoneum - Paraganglioma - Prominent vascular component (SKB)
Image:Retroperitoneum Paraganglioma 2 HP PA.JPG|Retroperitoneum - Paraganglioma  (SKB)
Image:Retroperitoneum Paraganglioma HP PA.JPG|Retroperitoneum - Paraganglioma - florid atypia  (SKB)
Image:Retroperitoneum Paraganglioma MP CTR.jpg|Retroperitoneum - Paraganglioma - large nests (SKB)
</gallery>
Ear paraganglioma "Glomus Tympanicum"
<gallery>
Image:Ear Paraganglioma GlomusTympanicumTumor MP PA.JPG|Ear - Paraganglioma - Glomus Tympanicum Tumor (SKB)
Image:Ear Paraganglioma GlomusTympanicumTumor HP 2 PA.JPG|Ear - Paraganglioma - Glomus Tympanicum Tumor  (SKB)
</gallery>
Bladder
<gallery>
Image:Bladder Paraganglioma PA DSCN4717.JPG|Bladder - Paraganglioma - Presented as micturation syncope (SKB)
</gallery>
Other:
<gallery>
Image:Pheochromocytoma_high_mag.jpg | Pheochromocytoma - high mag. (WC)
</gallery>
www:
*[http://path.upmc.edu/cases/case523.html Paraganglioma with gangliocytic differentiation - several images (upmc.edu)].


==IHC==
==IHC==
Features:<ref>{{Ref EP|335}}</ref>
Features:<ref name=Ref_EP335>{{Ref EP|335}}</ref>
*Chromogranin +ve.
*Chromogranin +ve.
*Synaptophysin +ve.
*Synaptophysin +ve.
*S100 +/-.
*S100 +ve/-ve (+ve in sustentacular cells, not tumor cells)
*Cytokeratin -ve.
*Cytokeratin -ve.
*EMA -ve.
*[[EMA]] -ve.
**+ve in RCC.
**+ve in [[renal cell carcinoma|RCC]].
*ATRX normal/loss.
**Loss of staining a poor prognosticator in pheochromocytoma/paraganglioma.<ref name=pmid40652840>{{cite journal |authors=Wang LL, Wei XJ, Zhang QC, Li F, Chen GY |title=Analysis of clinicopathological and immunohistochemical features of pheochromocytoma/paraganglioma |journal=Ann Diagn Pathol |volume=79 |issue= |pages=152525 |date=December 2025 |pmid=40652840 |doi=10.1016/j.anndiagpath.2025.152525 |url=}}</ref>
 
Testing for heritable tumours:
*SDHB (SDHx alterations).
*FH (loss in HLRCC).
*2SC (positive in HLRCC).
*CAIX (+ve in VHL-related).
*Alpha-inhibin (+ve in VHL-related and SHDx alterations).
 
==EM==
Features:<ref name=em_stuff>URL: [http://path.upmc.edu/cases/case408.html http://path.upmc.edu/cases/case408.html]. Accessed on: 16 January 2012.</ref>
*Neurosecretory granules.
**Electron dense core.
**Typically perinuclear location.
 
Image:
*[http://path.upmc.edu/cases/case408/images/fig14.jpg Neurosecretory granules (upmc.edu)].<ref name=em_stuff>URL: [http://path.upmc.edu/cases/case408.html http://path.upmc.edu/cases/case408.html]. Accessed on: 16 January 2012.</ref>
 
==Sign out==
<pre>
SOFT TISSUE, LEFT/RIGHT CAROTID BODY, EXCISION:
- PARAGANGLIOMA (SIZE IN CM).
- NEGATIVE RESECTION MARGIN.
</pre>


==See also==
==See also==
Line 44: Line 173:
{{reflist|2}}
{{reflist|2}}


[[Category:Rare stuff]]
[[Category:Weird stuff]]
[[Category:Diagnosis]]

Latest revision as of 18:48, 12 November 2025

Paraganglioma
Diagnosis in short

Paraganglioma. H&E stain.
LM Zellballen (nests of cells), fibrovascular septae, salt-and-pepper nuclei, +/-hemorrhage (very common)
LM DDx neuroendocrine tumour, pheochromocytoma (paraganglioma of the adrenal gland), gangliocytic paraganglioma
IHC chromogranin +ve, synaptophysin +ve, CD56 +ve
Gross dusky colour
Site abdomen (adrenal gland paraganglioma = pheochromocytoma), head and neck (carotid body tumour)
Syndromes von Hippel Lindau, hereditary paragangliomatosis, neurofibromatosis type 1 (von Recklinghausen disease), MEN 2A, MEN 2B, Carney-Stratakis syndrome, Carney triad
Prevalence uncommon
Prognosis usually good, rarely malignant

Paraganglioma is a rare tumour arising from the paraganglion. A paraganglioma arising in the adrenal gland is known as a pheochromocytoma.

General

  • Definition: tumour of paraganglion.
    • Can be sympathetic or parasympathetic.
    • Locations of paraganglia
      • Paravertebral (retroperitoneal)
      • Near the large blood vessels of the head and neck and base of skull
      • Scattered in other tissues
  • Most common paraganglioma = pheochromocytoma.[1]
    • Sites relate to locations of paraganglia
        • Head & neck most common - neck, ear, carotid body, base of skull
        • Retroperitoneal/abdomen
        • Bladder

Special site names

  • Carotid body tumour = paraganglioma of carotid body - very vascular - right near a major artery. Don't stick a needle in it.
  • Glomus tympanicum tumor = paraganglioma of the middle ear - pulsitile tintinitis and conductive hearing loss.
  • Pheochromocytoma - basically a 'paraganglioma' in the adrenal medulla

Epidemiology

  • Rare.
  • Rarely malignant.

Familial syndromes associated with paragangliomas:[2]

Other associations - not proven to be genetic:

Clinical

  • 10% bilateral, multiple, familial, pediatric and malignant.[7]

Gross

  • Dusky colour.

Note:

Image:

Microscopic

Features:[8]

  • Zellballen - nests of cells - key low power feature.
    • Zellballen is "cell balls" in German.
  • Fibrovascular septae and sustentacular cells (structural support cell).
  • Finely granular cytoplasm (salt-and-pepper nuclei).
  • +/-Hemorrhage - very common.

DDx:

Images

Carotid body tumour:

  • Paraganglioma - intermed. mag. (WC)

  • Paraganglioma - high mag. (WC)

  • Neck - Paraganglioma - nice Zeballen (SKB)

  • Neck Paraganglioma - Carotid Body Tumor (SKB)

  • Neck - Paraganglioma - Carotid Body Tumor (SKB)

Duodenal paraganglioma - uncommon location:

  • Paraganglioma - low mag. (WC)

  • Paraganglioma - very high mag. (WC)

  • Paraganglioma - chromogranin A - intermed. mag. (WC)

  • Paraganglioma - S100 - very high mag. (WC)

Retroperitoneal paraganglioma

  • Retroperitoneum - Paraganglioma - Prominent vascular component (SKB)

  • Retroperitoneum - Paraganglioma (SKB)

  • Retroperitoneum - Paraganglioma - florid atypia (SKB)

  • Retroperitoneum - Paraganglioma - large nests (SKB)

Ear paraganglioma "Glomus Tympanicum"

  • Ear - Paraganglioma - Glomus Tympanicum Tumor (SKB)

  • Ear - Paraganglioma - Glomus Tympanicum Tumor (SKB)

Bladder

  • Bladder - Paraganglioma - Presented as micturation syncope (SKB)

Other:

  • Pheochromocytoma - high mag. (WC)

www:

IHC

Features:[9]

  • Chromogranin +ve.
  • Synaptophysin +ve.
  • S100 +ve/-ve (+ve in sustentacular cells, not tumor cells)
  • Cytokeratin -ve.
  • EMA -ve.
  • ATRX normal/loss.
    • Loss of staining a poor prognosticator in pheochromocytoma/paraganglioma.[10]

Testing for heritable tumours:

  • SDHB (SDHx alterations).
  • FH (loss in HLRCC).
  • 2SC (positive in HLRCC).
  • CAIX (+ve in VHL-related).
  • Alpha-inhibin (+ve in VHL-related and SHDx alterations).

EM

Features:[11]

  • Neurosecretory granules.
    • Electron dense core.
    • Typically perinuclear location.

Image:

Sign out

SOFT TISSUE, LEFT/RIGHT CAROTID BODY, EXCISION:
- PARAGANGLIOMA (SIZE IN CM).
- NEGATIVE RESECTION MARGIN.

See also

References

  1. ↑ Thompson, Lester D. R. (2006). Endocrine Pathology: A Volume in Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 327. ISBN 978-0443066856.
  2. ↑ Thompson, Lester D. R. (2006). Endocrine Pathology: A Volume in Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 328. ISBN 978-0443066856.
  3. ↑ Blay, JY.; Blomqvist, C.; Bonvalot, S.; Boukovinas, I.; Casali, PG.; De Alava, E.; Dei Tos, AP.; Dirksen, U. et al. (Oct 2012). "Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.". Ann Oncol 23 Suppl 7: vii49-55. doi:10.1093/annonc/mds252. PMID 22997454. http://annonc.oxfordjournals.org/content/23/suppl_7/vii49.full.
  4. ↑ Lefebvre, M.; Foulkes, WD. (Feb 2014). "Pheochromocytoma and paraganglioma syndromes: genetics and management update.". Curr Oncol 21 (1): e8-e17. doi:10.3747/co.21.1579. PMID 24523625.
  5. ↑ Orrego JJ, Chorny JA (October 2024). "Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants". Endocrinol Diabetes Metab Case Rep 2024 (4). doi:10.1530/EDM-24-0073. PMC 11737469. PMID 39705504. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737469/.
  6. ↑ Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B (June 2023). "Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma". Urology 176: 106–114. doi:10.1016/j.urology.2022.11.053. PMID 36773955.
  7. ↑ Thompson, Lester D. R. (2006). Endocrine Pathology: A Volume in Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 327. ISBN 978-0443066856.
  8. ↑ Thompson, Lester D. R. (2006). Endocrine Pathology: A Volume in Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 329-332. ISBN 978-0443066856.
  9. ↑ Thompson, Lester D. R. (2006). Endocrine Pathology: A Volume in Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 335. ISBN 978-0443066856.
  10. ↑ Wang LL, Wei XJ, Zhang QC, Li F, Chen GY (December 2025). "Analysis of clinicopathological and immunohistochemical features of pheochromocytoma/paraganglioma". Ann Diagn Pathol 79: 152525. doi:10.1016/j.anndiagpath.2025.152525. PMID 40652840.
  11. ↑ 11.0 11.1 URL: http://path.upmc.edu/cases/case408.html. Accessed on: 16 January 2012.
Retrieved from "https://librepathology.org/w/index.php?title=Paraganglioma&oldid=53758"