48,933
edits
Difference between revisions of "TFE3-rearranged renal cell carcinoma"
Jump to navigation
Jump to search
TFE3-rearranged renal cell carcinoma (view source)
Revision as of 13:17, 26 March 2024
, 13:17, 26 March 2024no edit summary
| (36 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{ 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, [[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]] | | 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 13: | Line 14: | ||
| 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 = | | Clinicalhx = children or younger adults | ||
| Signs = | | Signs = | ||
| Symptoms = | | Symptoms = | ||
| Line 28: | Line 30: | ||
| 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 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== | ||
*Defined by the presence of a fusion gene formed with TFE3 @ Xp11.2. | *Defined by the presence of a fusion gene formed with TFE3 @ Xp11.2. | ||
*TFE3 is the gene involved in the translocation seen in [[alveolar soft part sarcoma]] (ASPS). | *TFE3 is the gene involved in the translocation seen in [[alveolar soft part sarcoma]] (ASPS). | ||
*Poor prognosis | *Poor prognosis - majority Stage III or Stage IV.<ref name=pmid25002378>{{Cite journal | last1 = Su | first1 = HH. | last2 = Sung | first2 = MT. | last3 = Chiang | first3 = PH. | last4 = Cheng | first4 = YT. | last5 = Chen | first5 = YT. | title = The preliminary experiences of translocation renal cell carcinoma and literature review. | journal = Kaohsiung J Med Sci | volume = 30 | issue = 8 | pages = 402-8 | month = Aug | year = 2014 | doi = 10.1016/j.kjms.2014.03.003 | PMID = 25002378 }}</ref> | ||
*~1/3 of childhood RCC.<ref name=pmid17667536>{{Cite journal | last1 = Argani | first1 = P. | last2 = Olgac | first2 = S. | last3 = Tickoo | first3 = SK. | last4 = Goldfischer | first4 = M. | last5 = Moch | first5 = H. | last6 = Chan | first6 = DY. | last7 = Eble | first7 = JN. | last8 = Bonsib | first8 = SM. | last9 = Jimeno | first9 = M. | title = Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. | journal = Am J Surg Pathol | volume = 31 | issue = 8 | pages = 1149-60 | month = Aug | year = 2007 | doi = 10.1097/PAS.0b013e318031ffff | PMID = 17667536 }}</ref> | *~1/3 of childhood RCC.<ref name=pmid17667536>{{Cite journal | last1 = Argani | first1 = P. | last2 = Olgac | first2 = S. | last3 = Tickoo | first3 = SK. | last4 = Goldfischer | first4 = M. | last5 = Moch | first5 = H. | last6 = Chan | first6 = DY. | last7 = Eble | first7 = JN. | last8 = Bonsib | first8 = SM. | last9 = Jimeno | first9 = M. | title = Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. | journal = Am J Surg Pathol | volume = 31 | issue = 8 | pages = 1149-60 | month = Aug | year = 2007 | doi = 10.1097/PAS.0b013e318031ffff | PMID = 17667536 }}</ref> | ||
| Line 54: | Line 60: | ||
*[[Epithelioid angiomyolipoma]]. | *[[Epithelioid angiomyolipoma]]. | ||
*[[Clear cell papillary renal cell carcinoma]]. | *[[Clear cell papillary renal cell carcinoma]]. | ||
*[[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=== | ||
====Case 1==== | |||
<gallery> | <gallery> | ||
Image:Xp11.2_translocation_renal_cell_carcinoma_-_intermed_mag.jpg | Xp11.2 translocation RCC - intermed. mag. (WC/Nephron) | Image:Xp11.2_translocation_renal_cell_carcinoma_-_intermed_mag.jpg | Xp11.2 translocation RCC - intermed. mag. (WC/Nephron) | ||
| Line 61: | Line 71: | ||
Image:Xp11.2_translocation_renal_cell_carcinoma_-_very_high_mag.jpg | Xp11.2 translocation RCC - very high mag. (WC/Nephron) | Image:Xp11.2_translocation_renal_cell_carcinoma_-_very_high_mag.jpg | Xp11.2 translocation RCC - very high mag. (WC/Nephron) | ||
</gallery> | </gallery> | ||
www | ====Case 2==== | ||
<gallery> | |||
Image: Translocation carcinoma - kidney -- low mag.jpg | TCK - low mag. | |||
Image: Translocation carcinoma - kidney -- intermed mag.jpg | TCK - intermed. mag. | |||
Image: Translocation carcinoma - kidney -- high mag.jpg | TCK - high mag. | |||
Image: Translocation carcinoma - kidney - alt -- high mag.jpg | TCK - high mag. | |||
Image: Translocation carcinoma - kidney -- very high mag.jpg | TCK - very high mag. | |||
</gallery> | |||
====www==== | |||
*[http://www.flickr.com/photos/40764007@N08/7403237732/in/photostream/ Translocation carcinoma (flickr.com)]. | *[http://www.flickr.com/photos/40764007@N08/7403237732/in/photostream/ Translocation carcinoma (flickr.com)]. | ||
==IHC== | ==IHC== | ||
*TFE3 +ve (nucleus) | 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> ‡ | |||
*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> | |||
Others: | |||
*CD10 +ve. | *CD10 +ve. | ||
*Vimentin +ve. | *Vimentin +ve. | ||
*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 -ve. | |||
*HMB-45 | |||
**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> | |||
*CD117 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | |||
*CK (pooled) -ve.<ref name=pmid20679884/> (???) | |||
*WT1 -ve (0 +ve/21 cases<ref name=pmid20679884/>). | |||
*PAX8 +ve (16 +ve/21<ref name=pmid20679884/>). | |||
Notes: | Notes: | ||
*A | *Poor man's panel - if one doesn't have the more informative stains: | ||
**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. | *[[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> | ||
*t( | *t(x;1)(p11.2;q21) PRCC-TFE3. | ||
*t( | *t(x;17)(p11.2;q25) ASPSCR1-TFE3. | ||
**Also seen in [[alveolar soft part sarcoma]]. | **Also seen in [[alveolar soft part sarcoma]]. | ||
==See also== | ==See also== | ||
*[[Kidney tumours]]. | *[[Kidney tumours]]. | ||
*[[Chromosomal translocation]]. | |||
==References== | ==References== | ||
| Line 93: | Line 125: | ||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||
[[Category:Kidney tumours]] | |||