Difference between revisions of "ELOC-mutated renal cell carcinoma"

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| Width      =
| Width      =
| Caption    = RCC with clear cells and fibromuscular band - morphology compatible with TCEB1 mutation. [[H&E stain]]. (WC)
| Caption    = RCC with clear cells and fibromuscular band - morphology compatible with TCEB1 mutation. [[H&E stain]]. (WC)
| Synonyms  =
| Synonyms  = TCEB1-mutated renal cell carcinoma (old name)
| Micro      = clear cells with abundant cytoplasm and basal nuclei (may have luminal nuclei), usually [[ISUP nucleolar grade]] 2, fibromuscular bands
| Micro      = clear cells with abundant cytoplasm and basal nuclei (may have luminal nuclei), usually [[ISUP nucleolar grade]] 2, fibromuscular bands
| Subtypes  =
| Subtypes  =
| LMDDx      = [[clear cell renal cell carcinoma]], [[clear cell tubulopapillary renal cell carcinoma]]
| LMDDx      = [[clear cell renal cell carcinoma]], [[clear cell papillary renal cell tumour]] (clear cell papillary RCC), [[renal cell carcinoma with fibromyomatous stroma]]
| Stains    =
| Stains    =
| IHC        = CK7 +ve, CD10 +ve, CK34betaE12 -ve
| IHC        = CK7 +ve, CD10 +ve, [[CK34betaE12]] -ve
| EM        =
| EM        =
| Molecular  = TCEB1 mutation
| Molecular  = TCEB1 mutation
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| Tx        =
| Tx        =
}}
}}
'''TCEB1-mutated renal cell carcinoma''', also '''renal cell carcinoma with TCEB1 mutation''', is an evolving entity that is morphologically similar to [[clear cell renal cell carcinoma]] and [[clear cell tubulopapillary renal cell carcinoma]].<ref name=pmid25676555>{{Cite journal  | last1 = Hakimi | first1 = AA. | last2 = Tickoo | first2 = SK. | last3 = Jacobsen | first3 = A. | last4 = Sarungbam | first4 = J. | last5 = Sfakianos | first5 = JP. | last6 = Sato | first6 = Y. | last7 = Morikawa | first7 = T. | last8 = Kume | first8 = H. | last9 = Fukayama | first9 = M. | title = TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype. | journal = Mod Pathol | volume = 28 | issue = 6 | pages = 845-53 | month = Jun | year = 2015 | doi = 10.1038/modpathol.2015.6 | PMID = 25676555 }}</ref>
'''ELOC-mutated renal cell carcinoma''' is a type of [[renal cell carcinoma]] that is morphologically similar to [[clear cell renal cell carcinoma]] and [[clear cell papillary renal cell tumour]] (previously ''clear cell papillary renal cell carcinoma'').<ref name=pmid25676555>{{Cite journal  | last1 = Hakimi | first1 = AA. | last2 = Tickoo | first2 = SK. | last3 = Jacobsen | first3 = A. | last4 = Sarungbam | first4 = J. | last5 = Sfakianos | first5 = JP. | last6 = Sato | first6 = Y. | last7 = Morikawa | first7 = T. | last8 = Kume | first8 = H. | last9 = Fukayama | first9 = M. | title = TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype. | journal = Mod Pathol | volume = 28 | issue = 6 | pages = 845-53 | month = Jun | year = 2015 | doi = 10.1038/modpathol.2015.6 | PMID = 25676555 }}</ref> It was formally recognized in the WHO 2022 classification of renal neoplasia.{{fact}}


It should '''not''' be confused with [[TFEB renal cell carcinoma]], also known as ''renal tumour with t(6;11) translocation''.
It was previously known as '''TCEB1-mutated renal cell carcinoma''' and '''renal cell carcinoma with TCEB1 mutation'''. It should '''not''' be confused with [[TFEB renal cell carcinoma]], also known as ''renal tumour with t(6;11) translocation''.


This entity is not recognized by the WHO classification of renal neoplasia.  It probably represents the previously described [[renal angiomyoadenomatous tumour]],<ref name=pmid25676555/><ref name=pmid19471960>{{Cite journal  | last1 = Michal | first1 = M. | last2 = Hes | first2 = O. | last3 = Kuroda | first3 = N. | last4 = Kazakov | first4 = DV. | last5 = Hora | first5 = M. | title = Difference between RAT and clear cell papillary renal cell carcinoma/clear renal cell carcinoma. | journal = Virchows Arch | volume = 454 | issue = 6 | pages = 719 | month = Jun | year = 2009 | doi = 10.1007/s00428-009-0788-9 | PMID = 19471960 }}</ref> that was lumped with [[clear cell papillary renal cell carcinoma]] in the [[Vancouver classification|Vancouver modification of the WHO classification]].
It is unrelated to the previously described [[renal angiomyoadenomatous tumour]]<ref name=pmid25676555/><ref name=pmid19471960>{{Cite journal  | last1 = Michal | first1 = M. | last2 = Hes | first2 = O. | last3 = Kuroda | first3 = N. | last4 = Kazakov | first4 = DV. | last5 = Hora | first5 = M. | title = Difference between RAT and clear cell papillary renal cell carcinoma/clear renal cell carcinoma. | journal = Virchows Arch | volume = 454 | issue = 6 | pages = 719 | month = Jun | year = 2009 | doi = 10.1007/s00428-009-0788-9 | PMID = 19471960 }}</ref> that was lumped with [[clear cell papillary renal cell carcinoma]] in the [[Vancouver classification|Vancouver modification of the WHO classification]].


==General==
==General==
*Evolving entity.
*Entity part of WHO Blue Book (5th Edition).
*TCEB1 (transcription elongation factor B, polypeptide 1) is part of a complex that binds with the product of the [[VHL]] gene;<ref>URL: [http://www.omim.org/entry/600788 http://www.omim.org/entry/600788]. Accessed on: 12 June 2015.</ref> thus, it acts as a [[tumour suppressor]].
*TCEB1 (transcription elongation factor B, polypeptide 1) is part of a complex that binds with the product of the [[VHL]] gene;<ref>URL: [http://www.omim.org/entry/600788 http://www.omim.org/entry/600788]. Accessed on: 12 June 2015.</ref> thus, it acts as a [[tumour suppressor]].
*Good prognosis - based on limited data.<ref name=pmid25676555/>
*Good prognosis - based on limited data.<ref name=pmid25676555/>
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DDx:
DDx:
*[[Clear cell renal cell carcinoma]].
*[[Clear cell renal cell carcinoma]].
*[[Clear cell tubulopapillary renal cell carcinoma]] - have luminal nuclei.
*[[Clear cell papillary renal cell tumour]] (previously ''clear cell papillary renal cell carcinoma'') - have luminal nuclei.
*[[Tuberous sclerosis-associated renal cell carcinoma]].
*[[Tuberous sclerosis-associated renal cell carcinoma]].
*[[Renal cell carcinoma with fibromyomatous stroma]] has TSC/mTOR pathway mutation.


===Images===
===Images===
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*CK7 +ve.
*CK7 +ve.
*CD10 +ve.
*CD10 +ve.
**Typically negative in [[clear cell tubulopapillary renal cell carcinoma]].
**Typically negative in [[clear cell papillary renal cell tumour]].
*CK34betaE12 -ve.
*CK34betaE12 -ve.
**Usually positive in [[clear cell tubulopapillary renal cell carcinoma]].
**Usually positive in [[clear cell papillary renal cell tumour]].


Others:
*[[GPNMB]] -ve.
**TSC1/TSC2/MTOR mutated RCC is GPNMB +ve.<ref name=pmid37661807>{{cite journal |authors=Li H, Argani P, Halper-Stromberg E, Lotan TL, Merino MJ, Reuter VE, Matoso A |title=Positive GPNMB Immunostaining Differentiates Renal Cell Carcinoma With Fibromyomatous Stroma Associated With TSC1/2/MTOR Alterations From Others |journal=Am J Surg Pathol |volume=47 |issue=11 |pages=1267–1273 |date=November 2023 |pmid=37661807 |doi=10.1097/PAS.0000000000002117 |url=}}</ref>
===Comparison between some renal tumours with clear cells===
{| class="wikitable sortable"  
{| class="wikitable sortable"  
!Tumour  
!Tumour  
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!CD10
!CD10
!CK34betaE12 (K903)
!CK34betaE12 (K903)
![[GPNMB]]
|-
|-
|Clear cell renal cell carcinoma  
|Clear cell renal cell carcinoma  
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| +ve
| +ve
| -ve
| -ve
| usu. -ve
|-
|-
|Clear cell tubulopapillary renal cell carcinoma  
|Clear cell papillary renal cell tumour  
| +ve (diffuse)
| +ve (diffuse)
| -ve
| -ve
| +ve
| +ve
| -ve<ref name=pmid37661807/>
|-
|ELOC-mutated renal cell carcinoma
| +ve
| +ve
| -ve
| -ve
|-
|-
|TCEB1-mutated clear cell renal cell carcinoma
|[[Renal cell carcinoma with fibromyomatous stroma|Renal cell carcinoma with fibromyomatous stroma and TSC/mTOR-mutation]]
| +ve
| +ve
| +ve
| +ve
| -ve
| -ve
| +ve
|-
|-
|}
|}
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<pre>
<pre>
Right Kidney, Radical Nephrectomy:  
Right Kidney, Radical Nephrectomy:  
     - CLEAR CELL RENAL CELL CARCINOMA with cysts and leiomyomatous  
     - RENAL CELL CARCINOMA with clear cells, cysts and leiomyomatous stroma, see comment.
        stroma, see comment.
     -- Margin clear.
     -- Margin clear.
     -- Please see synoptic report for details.
     -- Please see synoptic report for details.
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Comment:
Comment:
The tumour stains as follows:
The tumour stains as follows:
POSITIVE: CD10 (moderate), EMA (patchy), CAM5.2, CK7 (focal), PAX8 (diffuse).
POSITIVE: CD10 (moderate), EMA (patchy), CK7 (diffuse), PAX8 (diffuse).
NEGATIVE: CK34betaE12, CK20.
NEGATIVE: CK34betaE12, CK20.


The staining and morphology raises the possibility of a TCEB1 mutation, described
The differential diagnosis includes: (1) clear cell renal cell carcinoma, (2) RCC with a mTOR pathway mutation, and (3) ELOC-mutated RCC.
in a subset of clear cell renal cell carcinoma.[1]
 
1. Mod Pathol 28 (6): 845-53. doi:10.1038/modpathol.2015.6. PMID 25676555.
</pre>
</pre>


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*[[Vancouver classification]].
*[[Vancouver classification]].
*[[Renal angiomyoadenomatous tumour]] (renal cell carcinoma with angioleiomyoma-like stroma).
*[[Renal angiomyoadenomatous tumour]] (renal cell carcinoma with angioleiomyoma-like stroma).
*[[Renal cell carcinoma with fibromyomatous stroma]].


==References==
==References==

Latest revision as of 05:12, 16 April 2024

ELOC-mutated renal cell carcinoma
Diagnosis in short

RCC with clear cells and fibromuscular band - morphology compatible with TCEB1 mutation. H&E stain. (WC)
Synonyms TCEB1-mutated renal cell carcinoma (old name)
LM clear cells with abundant cytoplasm and basal nuclei (may have luminal nuclei), usually ISUP nucleolar grade 2, fibromuscular bands
LM DDx clear cell renal cell carcinoma, clear cell papillary renal cell tumour (clear cell papillary RCC), renal cell carcinoma with fibromyomatous stroma
IHC CK7 +ve, CD10 +ve, CK34betaE12 -ve
Molecular TCEB1 mutation
Site kidney - see kidney tumours
Syndromes possibly tuberous sclerosis - see tuberous sclerosis-associated renal cell carcinoma
Prevalence very rare - evolving entity
Prognosis good - based on limited data

ELOC-mutated renal cell carcinoma is a type of renal cell carcinoma that is morphologically similar to clear cell renal cell carcinoma and clear cell papillary renal cell tumour (previously clear cell papillary renal cell carcinoma).[1] It was formally recognized in the WHO 2022 classification of renal neoplasia.[citation needed]

It was previously known as TCEB1-mutated renal cell carcinoma and renal cell carcinoma with TCEB1 mutation. It should not be confused with TFEB renal cell carcinoma, also known as renal tumour with t(6;11) translocation.

It is unrelated to the previously described renal angiomyoadenomatous tumour[1][2] that was lumped with clear cell papillary renal cell carcinoma in the Vancouver modification of the WHO classification.

General

  • Entity part of WHO Blue Book (5th Edition).
  • TCEB1 (transcription elongation factor B, polypeptide 1) is part of a complex that binds with the product of the VHL gene;[3] thus, it acts as a tumour suppressor.
  • Good prognosis - based on limited data.[1]

Gross

  • Cystic changes.

Microscopic

Features:

  • Clear cells with abundant cytoplasm and basal nuclei.
    • Luminal nuclei (like in clear cell tubulopapillary RCC) may be seen.
  • Usually ISUP nucleolar grade 2.
  • Fibromuscular bands - key feature.

DDx:

Images

Morphology compatible

  • RCC CCFB - very low mag.

  • RCC CCFB - low mag.

  • RCC CCFB - intermed. mag.

  • RCC CCFB - high mag.

  • RCC CCFB - high mag.

  • RCC CCFB - very high mag.

IHC

Features:[1]

Others:

  • GPNMB -ve.
    • TSC1/TSC2/MTOR mutated RCC is GPNMB +ve.[4]

Comparison between some renal tumours with clear cells

Tumour CK7 CD10 CK34betaE12 (K903) GPNMB
Clear cell renal cell carcinoma -ve (may be focal) +ve -ve usu. -ve
Clear cell papillary renal cell tumour +ve (diffuse) -ve +ve -ve[4]
ELOC-mutated renal cell carcinoma +ve +ve -ve -ve
Renal cell carcinoma with fibromyomatous stroma and TSC/mTOR-mutation +ve +ve -ve +ve

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Molecular lacking

Right Kidney, Radical Nephrectomy: 
     - RENAL CELL CARCINOMA with clear cells, cysts and leiomyomatous stroma, see comment.
     -- Margin clear.
     -- Please see synoptic report for details.

Comment:
The tumour stains as follows:
POSITIVE: CD10 (moderate), EMA (patchy), CK7 (diffuse), PAX8 (diffuse).
NEGATIVE: CK34betaE12, CK20.

The differential diagnosis includes: (1) clear cell renal cell carcinoma, (2) RCC with a mTOR pathway mutation, and (3) ELOC-mutated RCC.

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 Hakimi, AA.; Tickoo, SK.; Jacobsen, A.; Sarungbam, J.; Sfakianos, JP.; Sato, Y.; Morikawa, T.; Kume, H. et al. (Jun 2015). "TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype.". Mod Pathol 28 (6): 845-53. doi:10.1038/modpathol.2015.6. PMID 25676555.
  2. ↑ Michal, M.; Hes, O.; Kuroda, N.; Kazakov, DV.; Hora, M. (Jun 2009). "Difference between RAT and clear cell papillary renal cell carcinoma/clear renal cell carcinoma.". Virchows Arch 454 (6): 719. doi:10.1007/s00428-009-0788-9. PMID 19471960.
  3. ↑ URL: http://www.omim.org/entry/600788. Accessed on: 12 June 2015.
  4. ↑ 4.0 4.1 Li H, Argani P, Halper-Stromberg E, Lotan TL, Merino MJ, Reuter VE, Matoso A (November 2023). "Positive GPNMB Immunostaining Differentiates Renal Cell Carcinoma With Fibromyomatous Stroma Associated With TSC1/2/MTOR Alterations From Others". Am J Surg Pathol 47 (11): 1267–1273. doi:10.1097/PAS.0000000000002117. PMID 37661807.
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