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Kidney tumor - adult malignancies

Adult renal cell carcinoma

Translocation carcinoma (adults)


Reviewers: Sean Williamson, M.D. (see Reviewers page)
Revised: 31 July 2012, last major update July 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Renal cell carcinoma with papillary and nested growth pattern, eosinophilic and clear cells, characterized by gene fusion involving TFE3 transcription factor gene
● Also called Xp11.2 translocation renal cell carcinoma or MiT translocation subgroup carcinomas
● 3% of adult renal cell carcinomas (Clin Cancer Res 2009;15:1170)
● Diagnosis requires FISH or PCR (Am J Clin Pathol 2012;137:761)
● TFEB tumors have heterogeneous clinicopathologic features and diverse fusion patterns (Am J Surg Pathol 2012;36:35)
● Much less common in adults than children

Epidemiology
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● 80% women, usually age 35 or less, usually high stage at diagnosis (Am J Surg Pathol 2007;31:1149)
● Aggressive clinical course (Am J Clin Pathol 2007;128:70)
● 19 of 46 (40%) of renal cell carcinomas in children/young adults were TFE3+ (Int J Surg Pathol 2011;19:170)

Case reports
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● 12 year old boy with nodal involvement at diagnosis (Afr J Paediatr Surg 2011;8:317)
● 20 year old woman with metastasis to placenta (Int J Surg Pathol 2011;19:80)

Gross description
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● Tan yellow, frequently hemorrhagic and necrotic

Gross images
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Well circumscribed tumor with hemorrhage and necrosis

Multiple partially cystic and hemorrhagic tumor nodules with fibrous septa

Micro description
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● Papillary and nested growth pattern with clear cells and eosinophilic cells
● Fibrous pseudocapsule, often calcified
● Polygonal tumor cells with sharp cell borders, voluminous clear to eosinophilic cytoplasm, irregular nuclei containing vesicular chromatin and small nucleoli
● Surrounded by thin walled vessels
● Also minor solid, acinar, alveolar and tubular patterns
● Foci of calcification are common
● No/rare mitotic figures

Micro images
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Various images

Positive stains
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● RCC, TFE3 or TFEB (nuclear staining), CD10, AMACR, vimentin, E-cadherin (2/3)
● Weak TFE3 staining in adults may not be specific (Am J Surg Pathol 2012;36:654)
● Variable PAX2/PAX8, cytokeratin (only 30-50% positive, less than other RCC types) and EMA (50%, frequently only focal); weak expression of melanocytic markers (Am J Surg Pathol 2002;26:1553, Am J Surg Pathol 2008;32:656, Am J Surg Pathol 2010;34:1295)
● focal carbonic anhydrase (Am J Clin Pathol 2010;134:873)

Negative stains
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● CD45, HMB45, calretinin, smooth muscle actin

Molecular description
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● t(X;17)(p11.2;q25): balanced translocation of TFE3 gene at Xp11.2 and ASPL gene at 17q25; also found in alveolar soft part sarcoma, but unbalanced
● t(X;1)(p11.2;q21): TFE3 and PRCC genes
● t(X;1)(p11.2;p34): TFE3 and PSF genes
● t(X;17)(p11.2;q23): TFE3 and CLTC genes
● inv(X)(p11;q12): TFE3 and NonO (p54nrb) genes (Am J Surg Pathol 2007;31:1149, Expert Rev Anticancer Ther 2010;10:843)
● t(6;11)(p21;q12): TFEB and alpha genes; appears to have low malignant potential in contrast to other translocation carcinomas (Am J Surg Pathol 2005;29:230, Int Urol Nephrol 2009;41:553)

Molecular images
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Karyotype and PCR

Electron microscopy description
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● Features of clear cell carcinoma, including cell junctions, numerous mitochondria, microvilli, basement membrane, abundant glycogen

Differential diagnosis
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Clear cell renal cell carcinoma: older patients, no true papillae (although pseudopapillary areas due to poor cell cohesion can be seen in high grade clear cell carcinoma), more frequently keratin/EMA+, vimentin+, TFE3-, diffuse CA-IX+, 3p deletion present, no intracisternal microtubules on EM
Papillary renal cell carcinoma: predominantly papillary, no nested alveolar patterns, no extensive areas of clear cells, keratin+, TFE3-, trisomy 7 and 17
Clear cell papillary renal cell carcinoma: eosinophilic cells not typically seen, no calcifications, often branched ductular structures, “secretory” cells with nuclei aligned above basement membrane (resembling secretory endometrium), typically a homogeneous low-grade population of clear cells, CK7+, CA-IX+, CD10-, AMACR-
Clear cell sarcoma of kidney: usually children, cells have indistinct cell margins, TFE3-

End of Kidney tumor - adult malignancies > Adult renal cell carcinoma > Translocation carcinoma (adults)


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