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

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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 [[TCEB1-mutated renal cell carcinoma]], an evolving kidney tumour that is ''not'' in the WHO classification of renal neoplasia.
This entity should '''not''' be confused with [[TCEB1-mutated renal cell carcinoma]], a subset of [[clear cell carcinoma]] that is ''not'' an entity in the WHO classification of renal neoplasia.


==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]].


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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).
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*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/>).
Note:
*Melan A and HMB-45 are considered a good screen for this entity and recommended for renal tumour with eosinophilic cytoplasm.


==Molecular==
==Molecular==

Revision as of 08:57, 8 September 2019

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 t(6;11)(p21;q12)
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

Renal tumour with t(6;11) translocation, also t(6;11) renal cell carcinoma, is a rare kidney tumour seen primarily in children.

It also known as TFEB RCC.[1]

It was added to WHO classification of renal neoplasia in the 2012 Vancouver modification.[2]

This entity should not be confused with TCEB1-mutated renal cell carcinoma, a subset of clear cell carcinoma that is not an entity in the WHO classification of renal neoplasia.

General

  • Very rare - approximately 2 dozen reported cases as of 2014.[1][3]
  • Lymph node metastases are common.
  • Traditionally thought of as a pediatric tumour... but cases in adults are reported.[1][4]

Microscopic

Features:[5]

  • 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

IHC

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

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[9]/TFEB.[10]

See also

References

  1. 1.0 1.1 1.2 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. URL: http://atlasgeneticsoncology.org/Tumors/RenalCellt0611ID5011.html. Accessed on: December 29, 2014.
  7. 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.
  8. 8.0 8.1 8.2 8.3 8.4 8.5 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.
  9. Online 'Mendelian Inheritance in Man' (OMIM) 607924
  10. 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.