Difference between revisions of "Olfactory neuroblastoma"

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#redirect [[Head_and_neck_pathology#Olfactory_neuroblastoma]]
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Esthesioneuroblastoma HE.jpg
| Width      =
| Caption    = Olfactory neuroblastoma
| Synonyms  =
| Micro      = [[Small round cell tumour|small round (blue) cell tumour]] (stippled chromatin, high NC ratio),
+/-Flexner-Wintersteiner [[rosette]] (rosette with empty centre), +/-Fibrillary, eosinophilic material (neuropil-like)
| Subtypes  =
| LMDDx      = other small round blue cell tumours (e.g. [[small cell carcinoma of the lung]]), large cell lymphoma (e.g. [[DLBCL]]), basaloid squamous cell carcinoma
| Stains    =
| IHC        =
| EM        =
| Molecular  =
| IF        =
| Gross      =
| Grossing  =
| Staging    =
| Site      =
| Assdx      =
| Syndromes  =
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence = rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = poor
| Other      =
| ClinDDx    =
| Tx        =
}}
'''Olfactory neuroblastoma''', also known as '''esthesioneuroblastoma''', is a rare aggressive tumour of the [[head and neck pathology|head and neck]].


''Neuroblastoma'' is dealt with in the ''[[neuroblastoma]]'' article.
==General==
Epidemiology:<ref name=pmid20596981/>
*Prognosis: poor.
*Wide age range with bimodal distribution - teens and 60s.
*No sex predilection.
Clinical presentation:<ref name=pmid20596981>{{Cite journal  | last1 = Thompson | first1 = LD. | title = Olfactory neuroblastoma. | journal = Head Neck Pathol | volume = 3 | issue = 3 | pages = 252-9 | month = Sep | year = 2009 | doi = 10.1007/s12105-009-0125-2 | PMID = 20596981 | PMC = 2811627 | URL = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811627/?tool=pubmed }}</ref>
*Nasal obstruction ~ 70%.
*Epistaxis ~ 50%.
*Anosmia.
*Headache.
==Gross==
*Arises from olfactory mucosa - upper nasal cavity.<ref name=Ref_WMSP41>{{Ref WMSP|41}}</ref>
==Microscopic==
Features:<ref name=pmid20596981/>
*[[Small round cell tumour|Small round (blue) cell tumour]] with:
**Stippled chromatin.
**High NC ratio.
*+/-Flexner-Wintersteiner [[rosette]] - rosette with empty centre (donut hole).
*+/-Fibrillary, eosinophilic material (neuropil-like).<ref name=Ref_WMSP41>{{Ref WMSP|41}}</ref>
DDx:
*[[Lymphoma]].
*[[Small cell carcinoma]].
*Other [[small round cell tumours]].
*Basaloid squamous carcinoma.{{fact}}
Images:
*[http://path.upmc.edu/cases/case467/images/fig02.jpg Olfactory neuroblastoma - crappy image (upmc.edu)].<ref>URL: [http://path.upmc.edu/cases/case467.html http://path.upmc.edu/cases/case467.html]. Accessed on: 21 January 2012.</ref>
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811627/figure/Fig6/ Olfactory neuroblastoma (nih.gov)].<ref name=pmid20596981/>
<gallery>
File:Esthesioneuroblastoma HE.jpg | Olfactory neuroblastoma (H&E).
File:Olfactory neuroblastoma.jpg | Olfactory neuroblastoma (AFIP).
File:Esthesioneuroblastoma.jpg | Sustenticular cells in ONB (AFIP).
</gallery>
==IHC==
*[[Neuroendocrine markers]]:<ref name=pmid36452592>{{cite journal |vauthors=Rao KR, Upadhya IB |title=A Review on Esthesioneuroblastoma |journal=Indian J Otolaryngol Head Neck Surg |volume=74 |issue=Suppl 2 |pages=1584–1590 |date=October 2022 |pmid=36452592 |pmc=9702120 |doi=10.1007/s12070-021-02726-2 |url=}}</ref>
**CD56 +ve.
**Synaptophysin +ve.
**Chromogranin A +ve.
**NSE +ve.
***Lower expression of neuroendocrine markers in IDH2 mutant tumors.{{fact}}
*S-100:
**Small round cells -ve.
**Sustentacular cells +ve.
***Neuronal ONB subtype is enriched for the presence of S100 sustentacular cells.
Others:
*CD45 -ve (r/o [[lymphoma]]).
*AE1/AE3 usually -ve (~1/3 are +ve<ref name=pmid36452592/>).
*CAM5.2 usu. -ve -- up to 35% +ve.<ref name=Ref_WMSP41>{{Ref WMSP|41}}</ref>
**Higher expression of cytokeratins in IDH2 mutant tumors.
==Molecular==
* Two major subgroups.<ref>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Engel | first2 = NW. | last3 = Stichel | first3 = D. | last4 = Lechner | first4 = M. | last5 = Glöss | first5 = S. | last6 = Schmid | first6 = S. | last7 = Koelsche | first7 = C. | last8 = Schrimpf | first8 = D. | last9 = Niesen | first9 = J. | title = DNA methylation-based reclassification of olfactory neuroblastoma. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 255-271 | month = 08 | year = 2018 | doi = 10.1007/s00401-018-1854-7 | PMID = 29730775 }}</ref><ref>{{Cite journal  | last1 = Classe | first1 = M. | last2 = Yao | first2 = H. | last3 = Mouawad | first3 = R. | last4 = Creighton | first4 = CJ. | last5 = Burgess | first5 = A. | last6 = Allanic | first6 = F. | last7 = Wassef | first7 = M. | last8 = Leroy | first8 = X. | last9 = Verillaud | first9 = B. | title = Integrated Multi-omic Analysis of Esthesioneuroblastomas Identifies Two Subgroups Linked to Cell Ontogeny. | journal = Cell Rep | volume = 25 | issue = 3 | pages = 811-821.e5 | month = 10 | year = 2018 | doi = 10.1016/j.celrep.2018.09.047 | PMID = 30332658 }}</ref>
**Classical ("neural").
**Basal: G-CIMP+ve with frequent IDH2 R172 mutations.
==See also==
*[[Small round cell tumours]].
*[[Head and neck pathology]].
==References==
{{Reflist|1}}
[[Category:Head and neck pathology]]
[[Category:Neuropathology]]
[[Category:Diagnosis]]
[[Category:Diagnosis]]

Latest revision as of 15:31, 17 October 2024

Olfactory neuroblastoma
Diagnosis in short

Olfactory neuroblastoma
LM

small round (blue) cell tumour (stippled chromatin, high NC ratio),

+/-Flexner-Wintersteiner rosette (rosette with empty centre), +/-Fibrillary, eosinophilic material (neuropil-like)
LM DDx other small round blue cell tumours (e.g. small cell carcinoma of the lung), large cell lymphoma (e.g. DLBCL), basaloid squamous cell carcinoma
Prevalence rare
Prognosis poor

Olfactory neuroblastoma, also known as esthesioneuroblastoma, is a rare aggressive tumour of the head and neck.

Neuroblastoma is dealt with in the neuroblastoma article.

General

Epidemiology:[1]

  • Prognosis: poor.
  • Wide age range with bimodal distribution - teens and 60s.
  • No sex predilection.

Clinical presentation:[1]

  • Nasal obstruction ~ 70%.
  • Epistaxis ~ 50%.
  • Anosmia.
  • Headache.

Gross

  • Arises from olfactory mucosa - upper nasal cavity.[2]

Microscopic

Features:[1]

  • Small round (blue) cell tumour with:
    • Stippled chromatin.
    • High NC ratio.
  • +/-Flexner-Wintersteiner rosette - rosette with empty centre (donut hole).
  • +/-Fibrillary, eosinophilic material (neuropil-like).[2]

DDx:

Images:

  • Olfactory neuroblastoma (H&E).

  • Olfactory neuroblastoma (AFIP).

  • Sustenticular cells in ONB (AFIP).

IHC

  • Neuroendocrine markers:[4]
    • CD56 +ve.
    • Synaptophysin +ve.
    • Chromogranin A +ve.
    • NSE +ve.
      • Lower expression of neuroendocrine markers in IDH2 mutant tumors.[citation needed]
  • S-100:
    • Small round cells -ve.
    • Sustentacular cells +ve.
      • Neuronal ONB subtype is enriched for the presence of S100 sustentacular cells.

Others:

  • CD45 -ve (r/o lymphoma).
  • AE1/AE3 usually -ve (~1/3 are +ve[4]).
  • CAM5.2 usu. -ve -- up to 35% +ve.[2]
    • Higher expression of cytokeratins in IDH2 mutant tumors.

Molecular

  • Two major subgroups.[5][6]
    • Classical ("neural").
    • Basal: G-CIMP+ve with frequent IDH2 R172 mutations.

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 Thompson, LD. (Sep 2009). "Olfactory neuroblastoma.". Head Neck Pathol 3 (3): 252-9. doi:10.1007/s12105-009-0125-2. PMC 2811627. PMID 20596981. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811627/.
  2. ↑ 2.0 2.1 2.2 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 41. ISBN 978-0781765275.
  3. ↑ URL: http://path.upmc.edu/cases/case467.html. Accessed on: 21 January 2012.
  4. ↑ 4.0 4.1 "A Review on Esthesioneuroblastoma". Indian J Otolaryngol Head Neck Surg 74 (Suppl 2): 1584–1590. October 2022. doi:10.1007/s12070-021-02726-2. PMC 9702120. PMID 36452592. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702120/.
  5. ↑ Capper, D.; Engel, NW.; Stichel, D.; Lechner, M.; Glöss, S.; Schmid, S.; Koelsche, C.; Schrimpf, D. et al. (08 2018). "DNA methylation-based reclassification of olfactory neuroblastoma.". Acta Neuropathol 136 (2): 255-271. doi:10.1007/s00401-018-1854-7. PMID 29730775.
  6. ↑ Classe, M.; Yao, H.; Mouawad, R.; Creighton, CJ.; Burgess, A.; Allanic, F.; Wassef, M.; Leroy, X. et al. (10 2018). "Integrated Multi-omic Analysis of Esthesioneuroblastomas Identifies Two Subgroups Linked to Cell Ontogeny.". Cell Rep 25 (3): 811-821.e5. doi:10.1016/j.celrep.2018.09.047. PMID 30332658.
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