Difference between revisions of "ELOC-mutated renal cell carcinoma"
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| 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 | | 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 = | | 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 | | Prevalence = very rare | ||
| Bloodwork = | | Bloodwork = | ||
| Rads = | | Rads = | ||
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==General== | ==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;<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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*[[Clear cell papillary renal cell tumour]] (previously ''clear cell papillary 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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Others: | Others: | ||
*GPNMB -ve. | *[[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> | **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=== | ===Comparison between some renal tumours with clear cells=== | ||
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!CD10 | !CD10 | ||
!CK34betaE12 (K903) | !CK34betaE12 (K903) | ||
!GPNMB | ![[GPNMB]] | ||
|- | |- | ||
|Clear cell renal cell carcinoma | |Clear cell renal cell carcinoma | ||
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| -ve | | -ve | ||
|- | |- | ||
|TSC/mTOR- | |[[Renal cell carcinoma with fibromyomatous stroma|Renal cell carcinoma with fibromyomatous stroma and TSC/mTOR-mutation]] | ||
| +ve | | +ve | ||
| +ve | | +ve | ||
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|- | |- | ||
|} | |} | ||
==Molecular== | |||
*ELOC mutation - definitional. | |||
==Sign out== | ==Sign out== | ||
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Comment: | Comment: | ||
The tumour stains as follows: | The tumour stains as follows: | ||
POSITIVE: CD10 (moderate), EMA (patchy) | POSITIVE: CD10 (moderate), EMA (patchy), CK7 (diffuse), PAX8 (diffuse). | ||
NEGATIVE: CK34betaE12, CK20. | 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. | The differential diagnosis includes: (1) clear cell renal cell carcinoma, (2) RCC with a mTOR pathway mutation, and (3) ELOC-mutated RCC. | ||
</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 14:38, 16 December 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, GPNMB -ve |
| Molecular | ELOC mutation |
| Grossing notes | total nephrectomy for tumour grossing, partial nephrectomy grossing |
| Staging | kidney cancer staging |
| Site | kidney - see kidney tumours |
|
| |
| Syndromes | possibly tuberous sclerosis - see tuberous sclerosis-associated renal cell carcinoma |
|
| |
| Prevalence | very rare |
| 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:
- Clear cell renal cell carcinoma.
- Clear cell papillary renal cell tumour (previously clear cell papillary renal cell carcinoma) - have luminal nuclei.
- Tuberous sclerosis-associated renal cell carcinoma.
- Renal cell carcinoma with fibromyomatous stroma has TSC/mTOR pathway mutation.
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]
- CK7 +ve.
- CD10 +ve.
- Typically negative in clear cell papillary renal cell tumour.
- CK34betaE12 -ve.
- Usually positive in clear cell papillary renal cell tumour.
Others:
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 |
Molecular
- ELOC mutation - definitional.
Sign out
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
- Vancouver classification.
- Renal angiomyoadenomatous tumour (renal cell carcinoma with angioleiomyoma-like stroma).
- Renal cell carcinoma with fibromyomatous stroma.
References
- ↑ 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.
- ↑ 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.
- ↑ URL: http://www.omim.org/entry/600788. Accessed on: 12 June 2015.
- ↑ 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.
- ↑ 5.0 5.1 Wang Y, Zhao P, Wang L, Wang J, Ji X, Li Y, Shi H, Li Y, Zhang W, Jiang Y (July 2022). "Analysis of clinicopathological and molecular features of ELOC(TCEB1)-mutant renal cell carcinoma". Pathol Res Pract 235: 153960. doi:10.1016/j.prp.2022.153960. PMID 35653922.