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Difference between revisions of "TFEB-rearranged renal cell carcinoma"
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{{ Infobox diagnosis | {{ Infobox diagnosis | ||
| Name = {{PAGENAME}} | | Name = {{PAGENAME}} | ||
| Image = | | Image = TFEB-like renal cell carcinoma -- high mag.jpg | ||
| Width = | | Width = | ||
| Caption = | | Caption = Renal cell carcinoma with morphology and IHC profile suggestive of TFEB RCC. [[H&E stain]]. | ||
| Synonyms = | | Synonyms = | ||
| Micro = solid architecture with occasional rosette-like structures; two cell populations (1) large epithelioid cells with clear to eosinophilic cytoplasm, (2) small lymphocyte-like cells | | Micro = solid architecture with occasional [[rosette]]-like structures; two cell populations (1) large epithelioid cells with clear to eosinophilic cytoplasm, (2) small lymphocyte-like cells | ||
| Subtypes = | | Subtypes = | ||
| LMDDx = [[renal cell carcinoma, unclassified]], [[angiomyolipoma]] (epithelioid) | | LMDDx = [[renal cell carcinoma, unclassified]], [[angiomyolipoma]] (epithelioid), other [[renal tumours with eosinophilic cytoplasm]] | ||
| Stains = | | Stains = | ||
| IHC = TFEB +ve (nuclear staining), HMB-45 +ve, TFE3 -ve | | IHC = TFEB +ve (nuclear staining), HMB-45 +ve, TFE3 -ve | ||
| EM = | | EM = | ||
| Molecular = t(6;11)(p21;q12) | | Molecular = TFEB rearrangement, t(6;11)(p21;q12) and others | ||
| 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 = | ||
| Syndromes = | | Syndromes = | ||
| Clinicalhx = children | | Clinicalhx = typically children or young adults | ||
| Signs = | | Signs = | ||
| Symptoms = | | Symptoms = | ||
| Line 25: | Line 26: | ||
| Rads = | | Rads = | ||
| Endoscopy = | | Endoscopy = | ||
| Prognosis = | | Prognosis = aggressive (?) | ||
| Other = | | Other = | ||
| ClinDDx = other [[kidney tumours]] | | ClinDDx = other [[kidney tumours]] | ||
| Tx = [[nephrectomy]] | | Tx = [[nephrectomy]] | ||
}} | }} | ||
''' | '''TFEB-rearranged renal cell carcinoma''', also '''TFEB RCC''', is a rare [[renal cell carcinoma]] recognized by the WHO classification.<ref name=pmid36645398>{{cite journal |authors=Alaghehbandan R, Siadat F, Trpkov K |title=What's new in the WHO 2022 classification of kidney tumours? |journal=Pathologica |volume=115 |issue=1 |pages=8–22 |date=February 2022 |pmid=36645398 |pmc=10342217 |doi=10.32074/1591-951X-818 |url=}}</ref><ref name=pmid24877033/> | ||
It | It was previously known as ''renal tumour with t(6;11) translocation'', also ''t(6;11) renal cell carcinoma''. It was first described in children. | ||
It was added to WHO classification of renal neoplasia in the [[Vancouver classification|2012 Vancouver modification]].<ref name=pmid24025519>{{Cite journal | last1 = Srigley | first1 = JR. | last2 = Delahunt | first2 = B. | last3 = Eble | first3 = JN. | last4 = Egevad | first4 = L. | last5 = Epstein | first5 = JI. | last6 = Grignon | first6 = D. | last7 = Hes | first7 = O. | last8 = Moch | first8 = H. | last9 = Montironi | first9 = R. | title = The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. | journal = Am J Surg Pathol | volume = 37 | issue = 10 | pages = 1469-89 | month = Oct | year = 2013 | doi = 10.1097/PAS.0b013e318299f2d1 | PMID = 24025519 }}</ref> | |||
This entity should '''not''' be confused with [[ELOC-mutated renal cell carcinoma]] (previously known as ''TCEB1-mutated renal cell carcinoma''). | |||
==General== | ==General== | ||
| Line 41: | Line 46: | ||
==Microscopic== | ==Microscopic== | ||
Features:<ref name=pmid18998233>{{Cite journal | last1 = Hora | first1 = M. | last2 = Hes | first2 = O. | last3 = Urge | first3 = T. | last4 = Eret | first4 = V. | last5 = Klecka | first5 = J. | last6 = Michal | first6 = M. | title = A distinctive translocation carcinoma of the kidney ["rosette-like forming," t(6;11), HMB45-positive renal tumor]. | journal = Int Urol Nephrol | volume = 41 | issue = 3 | pages = 553-7 | month = | year = 2009 | doi = 10.1007/s11255-008-9495-8 | PMID = 18998233 }}</ref> | Features:<ref name=pmid18998233>{{Cite journal | last1 = Hora | first1 = M. | last2 = Hes | first2 = O. | last3 = Urge | first3 = T. | last4 = Eret | first4 = V. | last5 = Klecka | first5 = J. | last6 = Michal | first6 = M. | title = A distinctive translocation carcinoma of the kidney ["rosette-like forming," t(6;11), HMB45-positive renal tumor]. | journal = Int Urol Nephrol | volume = 41 | issue = 3 | pages = 553-7 | month = | year = 2009 | doi = 10.1007/s11255-008-9495-8 | PMID = 18998233 }}</ref> | ||
*Solid with occasional rosette-like structures. | *Solid with occasional [[rosette]]-like structures. | ||
*Two cell populations: | *Two cell populations: | ||
*#Large epithelioid cells with clear to eosinophilic cytoplasm. | *#Large epithelioid cells with clear to eosinophilic cytoplasm. | ||
| Line 49: | Line 54: | ||
*[[Renal cell carcinoma, unclassified]]. | *[[Renal cell carcinoma, unclassified]]. | ||
*[[Angiomyolipoma]] (epithelioid). | *[[Angiomyolipoma]] (epithelioid). | ||
*[[Clear cell renal cell carcinoma]] with eosinophilic cytoplasm. | |||
*Other [[renal tumours with eosinophilic cytoplasm]]. | |||
*[[Biphasic hyalinizing psammomatous renal cell carcinoma]]. | |||
===Images=== | ===Images=== | ||
====www==== | |||
*[http://atlasgeneticsoncology.org/Tumors/Images/t0611p21q12RCCFig.jpg TFEB RCC (atlasgeneticsoncology.org)].<ref>URL: [http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html]. Accessed on: December 29, 2014.</ref> | *[http://atlasgeneticsoncology.org/Tumors/Images/t0611p21q12RCCFig.jpg TFEB RCC (atlasgeneticsoncology.org)].<ref>URL: [http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html]. Accessed on: December 29, 2014.</ref> | ||
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156324/figure/F1/ Renal tumour with t(6,11) (nih.gov)].<ref name=pmid12719541>{{Cite journal | last1 = Davis | first1 = IJ. | last2 = Hsi | first2 = BL. | last3 = Arroyo | first3 = JD. | last4 = Vargas | first4 = SO. | last5 = Yeh | first5 = YA. | last6 = Motyckova | first6 = G. | last7 = Valencia | first7 = P. | last8 = Perez-Atayde | first8 = AR. | last9 = Argani | first9 = P. | title = Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. | journal = Proc Natl Acad Sci U S A | volume = 100 | issue = 10 | pages = 6051-6 | month = May | year = 2003 | doi = 10.1073/pnas.0931430100 | PMID = 12719541 }}</ref> | *[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156324/figure/F1/ Renal tumour with t(6,11) (nih.gov)].<ref name=pmid12719541>{{Cite journal | last1 = Davis | first1 = IJ. | last2 = Hsi | first2 = BL. | last3 = Arroyo | first3 = JD. | last4 = Vargas | first4 = SO. | last5 = Yeh | first5 = YA. | last6 = Motyckova | first6 = G. | last7 = Valencia | first7 = P. | last8 = Perez-Atayde | first8 = AR. | last9 = Argani | first9 = P. | title = Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. | journal = Proc Natl Acad Sci U S A | volume = 100 | issue = 10 | pages = 6051-6 | month = May | year = 2003 | doi = 10.1073/pnas.0931430100 | PMID = 12719541 }}</ref> | ||
====IHC and morphology compatible==== | |||
<gallery> | |||
Image: TFEB-like renal cell carcinoma -- intermed mag.jpg | TFEB-like RCC - intermed. mag. | |||
Image: TFEB-like renal cell carcinoma -- high mag.jpg | TFEB-like RCC - high mag. | |||
Image: TFEB-like renal cell carcinoma -- very high mag.jpg | TFEB-like RCC - very high mag. | |||
Image: TFEB-like renal cell carcinoma - alt -- high mag.jpg | TFEB-like RCC - high mag. | |||
Image: TFEB-like renal cell carcinoma - rosette-like -- high mag.jpg | TFEB-like RCC - high mag. | |||
Image: TFEB-like renal cell carcinoma - gland-like -- intermed mag.jpg | TFEB-like RCC - intermed. mag. | |||
Image: TFEB-like renal cell carcinoma - gland-like -- high mag.jpg | TFEB-like RCC - high mag. | |||
</gallery> | |||
==IHC== | ==IHC== | ||
*TFEB +ve (nuclear staining). | *TFEB +ve (nuclear staining). | ||
*TFE3 -ve. | *TFE3 -ve. | ||
*Melan A +ve (13 +ve of 13 cases<ref name=pmid24618616>{{Cite journal | last1 = Smith | first1 = NE. | last2 = Illei | first2 = PB. | last3 = Allaf | first3 = M. | last4 = Gonzalez | first4 = N. | last5 = Morris | first5 = K. | last6 = Hicks | first6 = J. | last7 = Demarzo | first7 = A. | last8 = Reuter | first8 = VE. | last9 = Amin | first9 = MB. | title = t(6;11) renal cell carcinoma (RCC): expanded immunohistochemical profile emphasizing novel RCC markers and report of 10 new genetically confirmed cases. | journal = Am J Surg Pathol | volume = 38 | issue = 5 | pages = 604-14 | month = May | year = 2014 | doi = 10.1097/PAS.0000000000000203 | PMID = 24618616 }}</ref>). | |||
*HMB-45 +ve (12 +ve of 13 cases<ref name=pmid24618616/>). | |||
*PAX8 +ve/-ve (14 +ve of 23<ref name=pmid24618616/>). | |||
*CAM5.2 +ve (8 +ve of 13<ref name=pmid24618616/>). | |||
*RCC +ve (10 +ve of 14<ref name=pmid24618616/>). | |||
*CD10 +ve (10 +ve of 14<ref name=pmid24618616/>). | |||
*Cathepsin K +ve.{{fact}} | |||
*PD-L1 +ve.<ref name=pmid33208882/> | |||
Note: | |||
*Melan A and HMB-45 are considered a good screen for this entity and recommended for renal tumour with eosinophilic cytoplasm. | |||
==Molecular== | ==Molecular== | ||
*t(6;11)(p21;q12) MALAT1<ref>{{OMIM|607924}}</ref>/TFEB.<ref name=Ref_WMSP281>{{Ref WMSP|281}}</ref> | *t(6;11)(p21;q12) MALAT1<ref>{{OMIM|607924}}</ref>/TFEB.<ref name=Ref_WMSP281>{{Ref WMSP|281}}</ref> | ||
Others translocations involving TFEB have been described:<ref name=pmid33208882>{{cite journal |authors=Caliò A, Harada S, Brunelli M, Pedron S, Segala D, Portillo SC, Magi-Galluzzi C, Netto GJ, Mackinnon AC, Martignoni G |title=TFEB rearranged renal cell carcinoma. A clinicopathologic and molecular study of 13 cases. Tumors harboring MALAT1-TFEB, ACTB-TFEB, and the novel NEAT1-TFEB translocations constantly express PDL1 |journal=Mod Pathol |volume=34 |issue=4 |pages=842–850 |date=April 2021 |pmid=33208882 |doi=10.1038/s41379-020-00713-6 |url=}}</ref> | |||
*ACTB-TFEB. | |||
*NEAT1-TFEB. | |||
==See also== | ==See also== | ||
*[[Kidney tumours]]. | *[[Kidney tumours]]. | ||
*[[Renal tumour with Xp11.2 translocation]]. | |||
*[[Chromosomal translocations]]. | *[[Chromosomal translocations]]. | ||
*[[Pediatric pathology]]. | *[[Pediatric pathology]]. | ||