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Difference between revisions of "TFEB-rearranged renal cell carcinoma"
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| 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 = | ||
| Line 31: | Line 31: | ||
| 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 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> | 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 [[ | This entity should '''not''' be confused with [[ELOC-mutated renal cell carcinoma]] (previously known as ''TCEB1-mutated renal cell carcinoma''). | ||
==General== | ==General== | ||
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*[[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]]. | *Other [[renal tumours with eosinophilic cytoplasm]]. | ||
*[[Biphasic hyalinizing psammomatous renal cell carcinoma]]. | |||
===Images=== | ===Images=== | ||
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Image: TFEB-like renal cell carcinoma - gland-like -- high mag.jpg | TFEB-like RCC - high mag. | Image: TFEB-like renal cell carcinoma - gland-like -- high mag.jpg | TFEB-like RCC - high mag. | ||
</gallery> | </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>). | *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/>) | *HMB-45 +ve (12 +ve of 13 cases<ref name=pmid24618616/>). | ||
*PAX8 +ve/-ve (14 +ve of 23<ref name=pmid24618616/>). | *PAX8 +ve/-ve (14 +ve of 23<ref name=pmid24618616/>). | ||
*CAM5.2 +ve (8 +ve of 13<ref name=pmid24618616/>). | *CAM5.2 +ve (8 +ve of 13<ref name=pmid24618616/>). | ||
*RCC +ve (10 +ve of 14<ref name=pmid24618616/>). | *RCC +ve (10 +ve of 14<ref name=pmid24618616/>). | ||
*CD10 +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== | ||