TFE3-rearranged renal cell carcinoma

From Libre Pathology
Revision as of 16:30, 29 December 2014 by Michael (talk | contribs) (→‎IHC)
Jump to navigation Jump to search

Renal tumour with Xp11.2 translocation, also Xp11.2 translocation carcinoma, is an uncommon malignant kidney tumour.

TFE3-rearranged renal cell carcinoma
Diagnosis in short

Xp11.2 translocation carcinoma. H&E stain.

LM large cells with clear or eosinophilic cytoplasm, calcification (classic histomorphologic feature), +/-papillae, +/-nests, +/-psammoma bodies (common), +/-hyaline bodies (common)
LM DDx clear cell renal cell carcinoma, papillary renal cell carcinoma, epithelioid angiomyolipoma, clear cell papillary renal cell carcinoma
IHC TFE3 +ve (nucleus), CD10 +ve, vimentin +ve, CK7 -ve (usu.)
Molecular translocation involving TFE3, e.g. t(X;1)(p11.2;q21)
Site kidney - see kidney tumours

Prevalence rare
Prognosis poor
Clin. DDx other kidney tumours

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 - majority Stage III or Stage IV.[1]
  • ~1/3 of childhood RCC.[2]

Microscopic

Features:[3]

  • Large cells.
  • Clear or eosinophilic cytoplasm.
  • Papillae or nests.
  • Psammoma bodies - common.[4]
    • Calcification is considered the classic histomorphologic feature.
  • Hyaline bodies - common.

Notes:

DDx:

Images

www:

IHC

Key stains - as per ISUP:[5]

  • TFE3 +ve (nucleus).[3]
  • TFEB +ve.
  • Cathepsin K +ve.[6]

Others:

  • CD10 +ve.
  • Vimentin +ve.
  • CK7 -ve.
    • Positive in ~20% of cases.[7]
  • HMB-45 & Melan A -ve.

Notes:

  • Poor man's panel - if one doesn't have the more informative stains:
    • CK (pooled), EMA, Melan A, HMB-45, CK7, AMACR, CD10, vimentin.
  • EMA usually -ve.[8]
  • CD117 -ve (0 +ve/21 cases[8]).
  • CK (pooled) -ve.[8] (???)
  • WT1 -ve (0 +ve/21 cases[8]).

Molecular

The most common are:[9]

See also

References

  1. Su, HH.; Sung, MT.; Chiang, PH.; Cheng, YT.; Chen, YT. (Aug 2014). "The preliminary experiences of translocation renal cell carcinoma and literature review.". Kaohsiung J Med Sci 30 (8): 402-8. doi:10.1016/j.kjms.2014.03.003. PMID 25002378.
  2. Argani, P.; Olgac, S.; Tickoo, SK.; Goldfischer, M.; Moch, H.; Chan, DY.; Eble, JN.; Bonsib, SM. et al. (Aug 2007). "Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum.". Am J Surg Pathol 31 (8): 1149-60. doi:10.1097/PAS.0b013e318031ffff. PMID 17667536.
  3. 3.0 3.1 3.2 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 285. ISBN 978-0781765275.
  4. Prasad, SR.; Humphrey, PA.; Catena, JR.; Narra, VR.; Srigley, JR.; Cortez, AD.; Dalrymple, NC.; Chintapalli, KN.. "Common and uncommon histologic subtypes of renal cell carcinoma: imaging spectrum with pathologic correlation.". Radiographics 26 (6): 1795-806; discussion 1806-10. doi:10.1148/rg.266065010. PMID 17102051.
  5. Amin MB, Epstein JI, Ulbright TM, et al. (August 2014). "Best practices recommendations in the application of immunohistochemistry in urologic pathology: report from the international society of urological pathology consensus conference". Am. J. Surg. Pathol. 38 (8): 1017–22. doi:10.1097/PAS.0000000000000254. PMID 25025364.
  6. Martignoni G, Gobbo S, Camparo P, et al. (October 2011). "Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions". Mod. Pathol. 24 (10): 1313–9. doi:10.1038/modpathol.2011.93. PMID 21602817.
  7. He, H.; Zhou, GX.; Zhou, M.; Chen, L. (Sep 2011). "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.". Int J Gynecol Pathol 30 (5): 425-30. doi:10.1097/PGP.0b013e318214dd4f. PMID 21804394.
  8. 8.0 8.1 8.2 8.3 Argani, P.; Hicks, J.; De Marzo, AM.; Albadine, R.; Illei, PB.; Ladanyi, M.; Reuter, VE.; Netto, GJ. (Sep 2010). "Xp11 translocation renal cell carcinoma (RCC): extended immunohistochemical profile emphasizing novel RCC markers.". Am J Surg Pathol 34 (9): 1295-303. doi:10.1097/PAS.0b013e3181e8ce5b. PMID 20679884.
  9. Ellis, CL.; Eble, JN.; Subhawong, AP.; Martignoni, G.; Zhong, M.; Ladanyi, M.; Epstein, JI.; Netto, GJ. et al. (Dec 2013). "Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage.". Mod Pathol. doi:10.1038/modpathol.2013.208. PMID 24309327.