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TFE3-rearranged renal cell carcinoma (view source)
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'''Renal tumour with Xp11.2 translocation''' is an uncommon [[malignant]] [[kidney tumour]]. | |||
==General== | |||
*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). | |||
*Poor prognosis ~ 50% present at stage IV, majority of lymph node metastases. | |||
*~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> | |||
==Microscopic== | |||
Features:<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | |||
*Large cells. | |||
*Clear or eosinophilic cytoplasm. | |||
*Papillae or nests. | |||
*[[Psammoma bodies]] - common.<ref name=pmid17102051>{{Cite journal | last1 = Prasad | first1 = SR. | last2 = Humphrey | first2 = PA. | last3 = Catena | first3 = JR. | last4 = Narra | first4 = VR. | last5 = Srigley | first5 = JR. | last6 = Cortez | first6 = AD. | last7 = Dalrymple | first7 = NC. | last8 = Chintapalli | first8 = KN. | title = Common and uncommon histologic subtypes of renal cell carcinoma: imaging spectrum with pathologic correlation. | journal = Radiographics | volume = 26 | issue = 6 | pages = 1795-806; discussion 1806-10 | month = | year = | doi = 10.1148/rg.266065010 | PMID = 17102051 }}</ref> | |||
**Calcification is considered the '''classic histomorphologic feature'''. | |||
*[[Hyaline bodies]] - common. | |||
Notes: | |||
*Looks clear cell RCC ''or'' papillary RCC ''or'' a hybrid between the two. | |||
*May resemble [[alveolar soft part sarcoma]]. | |||
DDx: | |||
*[[Clear cell RCC]]. | |||
*[[Papillary RCC]]. | |||
*[[Epithelioid angiomyolipoma]]. | |||
*[[Clear cell papillary renal cell carcinoma]]. | |||
===Images=== | |||
<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_-_high_mag.jpg | Xp11.2 translocation RCC - high mag. (WC/Nephron) | |||
</gallery> | |||
www: | |||
*[http://www.flickr.com/photos/40764007@N08/7403237732/in/photostream/ Translocation carcinoma (flickr.com)]. | |||
==IHC== | |||
*TFE3 +ve (nucleus) - '''key feature'''.<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | |||
*CD10 +ve. | |||
*Vimentin +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> | |||
Others: | |||
*HMB-45 & Melan A -ve. | |||
**Positive in ''epithelioid [[angiomyolipoma]]''. | |||
==Molecular== | |||
*[[Translocation]] involving TFE3, e.g. t(X;1)(p11.2;q21).<ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref> | |||
==See also== | |||
*[[Kidney tumours]]. | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||