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Difference between revisions of "TFE3-rearranged renal cell carcinoma"
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{{ Infobox diagnosis | {{ Infobox diagnosis | ||
| Name = {{PAGENAME}} | | Name = {{PAGENAME}} | ||
| Image = Xp11.2_translocation_renal_cell_carcinoma_-_high_mag.jpg | | Image = Xp11.2_translocation_renal_cell_carcinoma_-_high_mag.jpg | ||
| Width = | | Width = | ||
| Caption = Xp11.2 translocation carcinoma. [[H&E stain]]. | | Caption = Xp11.2 translocation carcinoma. [[H&E stain]]. | ||
| Synonyms = Xp11 translocation renal cell carcinoma, renal tumour with Xp11 translocation | | Synonyms = Xp11 translocation renal cell carcinoma, renal tumour with Xp11 translocation, [[MiT family translocation renal cell carcinoma]] (obsolete term) | ||
| Micro = large cells with clear or eosinophilic cytoplasm, calcification (classic histomorphologic feature), +/-papillae, +/-nests, +/-[[psammoma bodies]] (common), +/-[[hyaline bodies]] (common) | | Micro = large cells with clear or eosinophilic cytoplasm, calcification (classic histomorphologic feature), +/-papillae, +/-nests, +/-[[psammoma bodies]] (common), +/-[[hyaline bodies]] (common) | ||
| Subtypes = | | Subtypes = | ||
| LMDDx = [[clear cell renal cell carcinoma]], [[papillary renal cell carcinoma]], [[epithelioid angiomyolipoma]], [[clear cell papillary renal cell carcinoma]], [[unclassified renal cell carcinoma]] | | LMDDx = [[clear cell renal cell carcinoma]], [[papillary renal cell carcinoma]], [[epithelioid angiomyolipoma]], [[clear cell papillary renal cell carcinoma]], [[unclassified renal cell carcinoma]], [[melanotic Xp11 translocation renal cancer]] (evolving entity) | ||
| Stains = | | Stains = | ||
| IHC = TFE3 +ve (nucleus), CD10 +ve, vimentin +ve, CK7 -ve (usu.) | | IHC = TFE3 +ve (nucleus), CD10 +ve, vimentin +ve, CK7 -ve (usu.) | ||
| Line 15: | Line 15: | ||
| Gross = | | Gross = | ||
| Grossing = [[total nephrectomy for tumour grossing]], [[partial nephrectomy 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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| ClinDDx = other [[kidney tumours]] | | ClinDDx = other [[kidney tumours]] | ||
}} | }} | ||
''' | '''TFE3-rearranged renal cell carcinoma''' is a rare type of [[renal cell carcinoma]] recognized by the WHO classification as a distinct entity.<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> | ||
It | It was previously known as '''renal tumour with Xp11.2 translocation''', also '''Xp11.2 translocation carcinoma''' and '''Xp11 translocation renal cell carcinoma'''. It was previously lumped with other entities in the category [[MiT family translocation renal cell carcinoma]]. | ||
It should '''not''' be confused with ''[[TFEB-rearranged RCC]]'', another [[translocation carcinoma]] found in the [[kidney]]. | |||
==General== | ==General== | ||
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*[[Clear cell papillary renal cell carcinoma]]. | *[[Clear cell papillary renal cell carcinoma]]. | ||
*[[Renal cell carcinoma, unclassified]]. | *[[Renal cell carcinoma, unclassified]]. | ||
*[[Adrenal gland]] - cortex. | |||
*[[Melanotic Xp11 translocation renal cancer]] - an evolving entity that looks like Xp11 translocation carcinoma, keratin negative.<ref name=pmid19065101>{{Cite journal | last1 = Argani | first1 = P. | last2 = Aulmann | first2 = S. | last3 = Karanjawala | first3 = Z. | last4 = Fraser | first4 = RB. | last5 = Ladanyi | first5 = M. | last6 = Rodriguez | first6 = MM. | title = Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. | journal = Am J Surg Pathol | volume = 33 | issue = 4 | pages = 609-19 | month = Apr | year = 2009 | doi = 10.1097/PAS.0b013e31818fbdff | PMID = 19065101 }}</ref> | |||
===Images=== | ===Images=== | ||
| Line 79: | Line 84: | ||
==IHC== | ==IHC== | ||
Key stains - as per [[ISUP]]:<ref name=pmid25025364 >{{cite journal |author=Amin MB, Epstein JI, Ulbright TM, ''et al.'' |title=Best practices recommendations in the application of immunohistochemistry in urologic pathology: report from the international society of urological pathology consensus conference |journal=Am. J. Surg. Pathol. |volume=38 |issue=8 |pages=1017–22 |year=2014 |month=August |pmid=25025364 |doi=10.1097/PAS.0000000000000254 |url=}}</ref> | Key stains - as per [[ISUP]]:<ref name=pmid25025364 >{{cite journal |author=Amin MB, Epstein JI, Ulbright TM, ''et al.'' |title=Best practices recommendations in the application of immunohistochemistry in urologic pathology: report from the international society of urological pathology consensus conference |journal=Am. J. Surg. Pathol. |volume=38 |issue=8 |pages=1017–22 |year=2014 |month=August |pmid=25025364 |doi=10.1097/PAS.0000000000000254 |url=}}</ref> | ||
*TFE3 +ve (nucleus).<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | *TFE3 +ve (nucleus).<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> ‡ | ||
*TFEB +ve. | *TFEB +ve. | ||
*Cathepsin K +ve.<ref name=pmid21602817>{{cite journal |author=Martignoni G, Gobbo S, Camparo P, ''et al.'' |title=Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions |journal=Mod. Pathol. |volume=24 |issue=10 |pages=1313–9 |year=2011 |month=October |pmid=21602817 |doi=10.1038/modpathol.2011.93 |url=}}</ref> | *Cathepsin K +ve.<ref name=pmid21602817>{{cite journal |author=Martignoni G, Gobbo S, Camparo P, ''et al.'' |title=Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions |journal=Mod. Pathol. |volume=24 |issue=10 |pages=1313–9 |year=2011 |month=October |pmid=21602817 |doi=10.1038/modpathol.2011.93 |url=}}</ref> | ||
| Line 88: | Line 93: | ||
*CK7 -ve. | *CK7 -ve. | ||
**Positive in ~20% of cases.<ref name=pmid21804394>{{Cite journal | last1 = He | first1 = H. | last2 = Zhou | first2 = GX. | last3 = Zhou | first3 = M. | last4 = Chen | first4 = L. | title = The distinction of clear cell carcinoma of the female genital tract, clear cell renal cell carcinoma, and translocation-associated renal cell carcinoma: an immunohistochemical study using tissue microarray. | journal = Int J Gynecol Pathol | volume = 30 | issue = 5 | pages = 425-30 | month = Sep | year = 2011 | doi = 10.1097/PGP.0b013e318214dd4f | PMID = 21804394 }}</ref> | **Positive in ~20% of cases.<ref name=pmid21804394>{{Cite journal | last1 = He | first1 = H. | last2 = Zhou | first2 = GX. | last3 = Zhou | first3 = M. | last4 = Chen | first4 = L. | title = The distinction of clear cell carcinoma of the female genital tract, clear cell renal cell carcinoma, and translocation-associated renal cell carcinoma: an immunohistochemical study using tissue microarray. | journal = Int J Gynecol Pathol | volume = 30 | issue = 5 | pages = 425-30 | month = Sep | year = 2011 | doi = 10.1097/PGP.0b013e318214dd4f | PMID = 21804394 }}</ref> | ||
*HMB-45 | *HMB-45 -ve. | ||
**Positive in ''epithelioid [[angiomyolipoma]]''. | **Positive in ''epithelioid [[angiomyolipoma]]''. | ||
*Melan A -ve/+ve.<ref name=pmid22207547>{{Cite journal | last1 = Kuroda | first1 = N. | last2 = Mikami | first2 = S. | last3 = Pan | first3 = CC. | last4 = Cohen | first4 = RJ. | last5 = Hes | first5 = O. | last6 = Michal | first6 = M. | last7 = Nagashima | first7 = Y. | last8 = Tanaka | first8 = Y. | last9 = Inoue | first9 = K. | title = Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect. | journal = Histol Histopathol | volume = 27 | issue = 2 | pages = 133-40 | month = Feb | year = 2012 | doi = | PMID = 22207547 }}</ref> | |||
**Should exclude adrenal if +ve. | |||
*EMA usually -ve.<ref name=pmid20679884>{{Cite journal | last1 = Argani | first1 = P. | last2 = Hicks | first2 = J. | last3 = De Marzo | first3 = AM. | last4 = Albadine | first4 = R. | last5 = Illei | first5 = PB. | last6 = Ladanyi | first6 = M. | last7 = Reuter | first7 = VE. | last8 = Netto | first8 = GJ. | title = Xp11 translocation renal cell carcinoma (RCC): extended immunohistochemical profile emphasizing novel RCC markers. | journal = Am J Surg Pathol | volume = 34 | issue = 9 | pages = 1295-303 | month = Sep | year = 2010 | doi = 10.1097/PAS.0b013e3181e8ce5b | PMID = 20679884 }}</ref> | *EMA usually -ve.<ref name=pmid20679884>{{Cite journal | last1 = Argani | first1 = P. | last2 = Hicks | first2 = J. | last3 = De Marzo | first3 = AM. | last4 = Albadine | first4 = R. | last5 = Illei | first5 = PB. | last6 = Ladanyi | first6 = M. | last7 = Reuter | first7 = VE. | last8 = Netto | first8 = GJ. | title = Xp11 translocation renal cell carcinoma (RCC): extended immunohistochemical profile emphasizing novel RCC markers. | journal = Am J Surg Pathol | volume = 34 | issue = 9 | pages = 1295-303 | month = Sep | year = 2010 | doi = 10.1097/PAS.0b013e3181e8ce5b | PMID = 20679884 }}</ref> | ||
*CD117 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | *CD117 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | ||
*CK (pooled) -ve.<ref name=pmid20679884/> (???) | *CK (pooled) -ve.<ref name=pmid20679884/> (???) | ||
*WT1 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | *WT1 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | ||
*PAX8 +ve (16 +ve/21<ref name=pmid20679884/>). | |||
Notes: | Notes: | ||
*Poor man's panel - if one doesn't have the more informative stains: | *Poor man's panel - if one doesn't have the more informative stains: | ||
**CK (pooled), EMA, Melan A, HMB-45, CK7, AMACR, CD10, vimentin. | **CK (pooled), EMA, Melan A, HMB-45, CK7, AMACR, CD10, vimentin, RCC. | ||
*‡ The IHC (in comparsion to FISH) has both false negatives and false positives; in one study by Qu ''et al.'' the false positive rate was 7% (2/30) and false negative rate was 4% (2/46).<ref>{{Cite journal | last1 = Qu | first1 = Y. | last2 = Gu | first2 = C. | last3 = Wang | first3 = H. | last4 = Chang | first4 = K. | last5 = Yang | first5 = X. | last6 = Zhou | first6 = X. | last7 = Dai | first7 = B. | last8 = Zhu | first8 = Y. | last9 = Shi | first9 = G. | title = Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population. | journal = Sci Rep | volume = 6 | issue = | pages = 21677 | month = | year = 2016 | doi = 10.1038/srep21677 | PMID = 26880493 }}</ref> | |||
==Molecular== | ==Molecular== | ||
*[[Translocation]] involving TFE3.<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | *[[Translocation]] involving TFE3.<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | ||
**A very low list of partners have been described. | |||
The most common are:<ref name=pmid24309327 >{{Cite journal | last1 = Ellis | first1 = CL. | last2 = Eble | first2 = JN. | last3 = Subhawong | first3 = AP. | last4 = Martignoni | first4 = G. | last5 = Zhong | first5 = M. | last6 = Ladanyi | first6 = M. | last7 = Epstein | first7 = JI. | last8 = Netto | first8 = GJ. | last9 = Argani | first9 = P. | title = Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage. | journal = Mod Pathol | volume = | issue = | pages = | month = Dec | year = 2013 | doi = 10.1038/modpathol.2013.208 | PMID = 24309327 }}</ref> | The most common are:<ref name=pmid24309327 >{{Cite journal | last1 = Ellis | first1 = CL. | last2 = Eble | first2 = JN. | last3 = Subhawong | first3 = AP. | last4 = Martignoni | first4 = G. | last5 = Zhong | first5 = M. | last6 = Ladanyi | first6 = M. | last7 = Epstein | first7 = JI. | last8 = Netto | first8 = GJ. | last9 = Argani | first9 = P. | title = Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage. | journal = Mod Pathol | volume = | issue = | pages = | month = Dec | year = 2013 | doi = 10.1038/modpathol.2013.208 | PMID = 24309327 }}</ref> | ||