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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. | |||
**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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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== | ||