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

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ELOC-mutated renal cell carcinoma (view source)

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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, [[GPNMB]] -ve
| EM        =
| EM        =
| Molecular  = TCEB1 mutation
| Molecular  = ELOC mutation
| IF        =
| IF        =
| Gross      =
| Gross      =
| Grossing  =
| Grossing  = [[total nephrectomy for tumour grossing]], [[partial nephrectomy grossing]]
| Staging    = [[kidney cancer staging]]
| Site      = [[kidney]] - see ''[[kidney tumours]]''
| Site      = [[kidney]] - see ''[[kidney tumours]]''
| Assdx      =
| Assdx      =
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| Signs      =
| Signs      =
| Symptoms  =
| Symptoms  =
| Prevalence = very rare - evolving entity
| Prevalence = very rare
| Bloodwork  =
| Bloodwork  =
| Rads      =
| Rads      =
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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>
*CA9 +ve.<ref name=pmid35653922>{{cite journal |authors=Wang Y, Zhao P, Wang L, Wang J, Ji X, Li Y, Shi H, Li Y, Zhang W, Jiang Y |title=Analysis of clinicopathological and molecular features of ELOC(TCEB1)-mutant renal cell carcinoma |journal=Pathol Res Pract |volume=235 |issue= |pages=153960 |date=July 2022 |pmid=35653922 |doi=10.1016/j.prp.2022.153960 |url=}}</ref>
*TCEB1 +ve.<ref name=pmid35653922/>
 
===Comparison between some renal tumours with clear cells===
{| class="wikitable sortable"
!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<ref name=pmid37661807/>
|-
|ELOC-mutated renal cell carcinoma
| +ve
| +ve
| -ve
| -ve
|-
|[[Renal cell carcinoma with fibromyomatous stroma|Renal cell carcinoma with fibromyomatous stroma and TSC/mTOR-mutation]]
| +ve
| +ve
| -ve
| +ve
|-
|}
 
==Molecular==
*ELOC mutation - definitional.
**Point mutation: ELOC Y79C.<ref name=pmid35653922>{{cite journal |authors=Wang Y, Zhao P, Wang L, Wang J, Ji X, Li Y, Shi H, Li Y, Zhang W, Jiang Y |title=Analysis of clinicopathological and molecular features of ELOC(TCEB1)-mutant renal cell carcinoma |journal=Pathol Res Pract |volume=235 |issue= |pages=153960 |date=July 2022 |pmid=35653922 |doi=10.1016/j.prp.2022.153960 |url=}}</ref>


==Sign out==
==Sign out==
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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 TCEB-1 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==
Michael
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