Difference between revisions of "TFEB-rearranged renal cell carcinoma"

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#redirect [[Kidney_tumours#Renal_tumour_with_t.286.3B11.29_translocation]]
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = TFEB-like renal cell carcinoma -- high mag.jpg
| Width      =
| Caption    = Renal cell carcinoma with morphology and IHC profile suggestive of TFEB RCC. [[H&E stain]].
| 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
| Subtypes  =
| LMDDx      = [[renal cell carcinoma, unclassified]], [[angiomyolipoma]] (epithelioid), other [[renal tumours with eosinophilic cytoplasm]]
| Stains    =
| IHC        = TFEB +ve (nuclear staining), HMB-45 +ve, TFE3 -ve
| EM        =
| Molecular  = TFEB rearrangement, t(6;11)(p21;q12) and others
| IF        =
| Gross      =
| Grossing  = [[total nephrectomy for tumour grossing]], [[partial nephrectomy grossing]]
| Staging    = [[kidney cancer staging]]
| Site      = [[kidney]] - see ''[[kidney tumours]]''
| Assdx      =
| Syndromes  =
| Clinicalhx = typically children or young adults
| Signs      =
| Symptoms  =
| Prevalence = very rare ~ 2 dozen reported cases
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = aggressive (?)
| Other      =
| ClinDDx    = other [[kidney tumours]]
| 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>
This entity should '''not''' be confused with [[ELOC-mutated renal cell carcinoma]] (previously known as ''TCEB1-mutated renal cell carcinoma'').
==General==
*Very rare - approximately 2 dozen reported cases as of 2014.<ref name=pmid24877033/><ref name=pmid22892601>{{Cite journal  | last1 = Argani | first1 = P. | last2 = Yonescu | first2 = R. | last3 = Morsberger | first3 = L. | last4 = Morris | first4 = K. | last5 = Netto | first5 = GJ. | last6 = Smith | first6 = N. | last7 = Gonzalez | first7 = N. | last8 = Illei | first8 = PB. | last9 = Ladanyi | first9 = M. | title = Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum. | journal = Am J Surg Pathol | volume = 36 | issue = 10 | pages = 1516-26 | month = Oct | year = 2012 | doi = 10.1097/PAS.0b013e3182613d8f | PMID = 22892601 }}</ref>
*[[Lymph node metastases]] are common.
*Traditionally thought of as a pediatric tumour... but cases in adults are reported.<ref name=pmid24877033>{{Cite journal  | last1 = Hora | first1 = M. | last2 = Urge | first2 = T. | last3 = Trávníček | first3 = I. | last4 = Ferda | first4 = J. | last5 = Chudáček | first5 = Z. | last6 = Vaněček | first6 = T. | last7 = Michal | first7 = M. | last8 = Petersson | first8 = F. | last9 = Kuroda | first9 = N. | title = MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]. | journal = Springerplus | volume = 3 | issue =  | pages = 245 | month =  | year = 2014 | doi = 10.1186/2193-1801-3-245 | PMID = 24877033 }}</ref><ref name=pmid21884304>{{Cite journal  | last1 = Ishihara | first1 = A. | last2 = Yamashita | first2 = Y. | last3 = Takamori | first3 = H. | last4 = Kuroda | first4 = N. | title = Renal carcinoma with (6;11)(p21;q12) translocation: Report of an adult case. | journal = Pathol Int | volume = 61 | issue = 9 | pages = 539-45 | month = Sep | year = 2011 | doi = 10.1111/j.1440-1827.2011.02711.x | PMID = 21884304 }}</ref>
==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>
*Solid with occasional [[rosette]]-like structures.
*Two cell populations:
*#Large epithelioid cells with clear to eosinophilic cytoplasm.
*#Small lymphocyte-like cells.
DDx:
*[[Renal cell carcinoma, unclassified]].
*[[Angiomyolipoma]] (epithelioid).
*[[Clear cell renal cell carcinoma]] with eosinophilic cytoplasm.
*Other [[renal tumours with eosinophilic cytoplasm]].
*[[Biphasic hyalinizing psammomatous renal cell carcinoma]].
===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://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==
*TFEB +ve (nuclear staining).
*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==
*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==
*[[Kidney tumours]].
*[[Renal tumour with Xp11.2 translocation]].
*[[Chromosomal translocations]].
*[[Pediatric pathology]].
==References==
{{Reflist|1}}
[[Category:Kidney tumours]]
[[Category:Diagnosis]]
[[Category:Diagnosis]]

Latest revision as of 13:19, 26 March 2024

TFEB-rearranged renal cell carcinoma
Diagnosis in short

Renal cell carcinoma with morphology and IHC profile suggestive of TFEB RCC. H&E stain.
LM solid architecture with occasional rosette-like structures; two cell populations (1) large epithelioid cells with clear to eosinophilic cytoplasm, (2) small lymphocyte-like cells
LM DDx renal cell carcinoma, unclassified, angiomyolipoma (epithelioid), other renal tumours with eosinophilic cytoplasm
IHC TFEB +ve (nuclear staining), HMB-45 +ve, TFE3 -ve
Molecular TFEB rearrangement, t(6;11)(p21;q12) and others
Grossing notes total nephrectomy for tumour grossing, partial nephrectomy grossing
Staging kidney cancer staging
Site kidney - see kidney tumours
Clinical history typically children or young adults
Prevalence very rare ~ 2 dozen reported cases
Prognosis aggressive (?)
Clin. DDx other kidney tumours
Treatment nephrectomy

TFEB-rearranged renal cell carcinoma, also TFEB RCC, is a rare renal cell carcinoma recognized by the WHO classification.[1][2]

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 2012 Vancouver modification.[3]

This entity should not be confused with ELOC-mutated renal cell carcinoma (previously known as TCEB1-mutated renal cell carcinoma).

General

  • Very rare - approximately 2 dozen reported cases as of 2014.[2][4]
  • Lymph node metastases are common.
  • Traditionally thought of as a pediatric tumour... but cases in adults are reported.[2][5]

Microscopic

Features:[6]

  • Solid with occasional rosette-like structures.
  • Two cell populations:
    1. Large epithelioid cells with clear to eosinophilic cytoplasm.
    2. Small lymphocyte-like cells.

DDx:

Images

www

IHC and morphology compatible

  • TFEB-like RCC - intermed. mag.

  • TFEB-like RCC - high mag.

  • TFEB-like RCC - very high mag.

  • TFEB-like RCC - high mag.

  • TFEB-like RCC - high mag.

  • TFEB-like RCC - intermed. mag.

  • TFEB-like RCC - high mag.

IHC

  • TFEB +ve (nuclear staining).
  • TFE3 -ve.
  • Melan A +ve (13 +ve of 13 cases[9]).
  • HMB-45 +ve (12 +ve of 13 cases[9]).
  • PAX8 +ve/-ve (14 +ve of 23[9]).
  • CAM5.2 +ve (8 +ve of 13[9]).
  • RCC +ve (10 +ve of 14[9]).
  • CD10 +ve (10 +ve of 14[9]).
  • Cathepsin K +ve.[citation needed]
  • PD-L1 +ve.[10]

Note:

  • Melan A and HMB-45 are considered a good screen for this entity and recommended for renal tumour with eosinophilic cytoplasm.

Molecular


Others translocations involving TFEB have been described:[10]

  • ACTB-TFEB.
  • NEAT1-TFEB.

See also

References

  1. ↑ Alaghehbandan R, Siadat F, Trpkov K (February 2022). "What's new in the WHO 2022 classification of kidney tumours?". Pathologica 115 (1): 8–22. doi:10.32074/1591-951X-818. PMC 10342217. PMID 36645398. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342217/.
  2. ↑ 2.0 2.1 2.2 Hora, M.; Urge, T.; Trávníček, I.; Ferda, J.; Chudáček, Z.; Vaněček, T.; Michal, M.; Petersson, F. et al. (2014). "MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)].". Springerplus 3: 245. doi:10.1186/2193-1801-3-245. PMID 24877033.
  3. ↑ Srigley, JR.; Delahunt, B.; Eble, JN.; Egevad, L.; Epstein, JI.; Grignon, D.; Hes, O.; Moch, H. et al. (Oct 2013). "The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia.". Am J Surg Pathol 37 (10): 1469-89. doi:10.1097/PAS.0b013e318299f2d1. PMID 24025519.
  4. ↑ Argani, P.; Yonescu, R.; Morsberger, L.; Morris, K.; Netto, GJ.; Smith, N.; Gonzalez, N.; Illei, PB. et al. (Oct 2012). "Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum.". Am J Surg Pathol 36 (10): 1516-26. doi:10.1097/PAS.0b013e3182613d8f. PMID 22892601.
  5. ↑ Ishihara, A.; Yamashita, Y.; Takamori, H.; Kuroda, N. (Sep 2011). "Renal carcinoma with (6;11)(p21;q12) translocation: Report of an adult case.". Pathol Int 61 (9): 539-45. doi:10.1111/j.1440-1827.2011.02711.x. PMID 21884304.
  6. ↑ Hora, M.; Hes, O.; Urge, T.; Eret, V.; Klecka, J.; Michal, M. (2009). "A distinctive translocation carcinoma of the kidney ["rosette-like forming," t(6;11), HMB45-positive renal tumor].". Int Urol Nephrol 41 (3): 553-7. doi:10.1007/s11255-008-9495-8. PMID 18998233.
  7. ↑ URL: http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html. Accessed on: December 29, 2014.
  8. ↑ Davis, IJ.; Hsi, BL.; Arroyo, JD.; Vargas, SO.; Yeh, YA.; Motyckova, G.; Valencia, P.; Perez-Atayde, AR. et al. (May 2003). "Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation.". Proc Natl Acad Sci U S A 100 (10): 6051-6. doi:10.1073/pnas.0931430100. PMID 12719541.
  9. ↑ 9.0 9.1 9.2 9.3 9.4 9.5 Smith, NE.; Illei, PB.; Allaf, M.; Gonzalez, N.; Morris, K.; Hicks, J.; Demarzo, A.; Reuter, VE. et al. (May 2014). "t(6;11) renal cell carcinoma (RCC): expanded immunohistochemical profile emphasizing novel RCC markers and report of 10 new genetically confirmed cases.". Am J Surg Pathol 38 (5): 604-14. doi:10.1097/PAS.0000000000000203. PMID 24618616.
  10. ↑ 10.0 10.1 Caliò A, Harada S, Brunelli M, Pedron S, Segala D, Portillo SC, Magi-Galluzzi C, Netto GJ, Mackinnon AC, Martignoni G (April 2021). "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". Mod Pathol 34 (4): 842–850. doi:10.1038/s41379-020-00713-6. PMID 33208882.
  11. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 607924
  12. ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 281. ISBN 978-0781765275.
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