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Kidney tumor - cysts, children, adult benign

Childhood neoplasms

Translocation carcinoma


Reviewers: Mandolin Ziadie, M.D. (see Reviewers page)
Revised: 13 January 2012, last major update January 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Pediatric renal cell carcinoma with translocations involving TFE3 transcription factor gene (Xp11.2) or TFEB protein (11q12)
● Also called MiT translocation subgroup carcinomas

Epidemiology
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● Represents 33-73% of pediatric renal cell carcinomas (Cancer 2008;112:1607)

Clinical features
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● Associated with prior chemotherapy (J Clin Oncol 2006;24:1529)
● Presents at high stage with poor prognosis (Histopathology 2008;53:533)



Ideogram and karyotype


Gross description
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● Tan-yellow, frequent hemorrhage and necrosis

Gross images
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Multiple partially cystic and hemorrhagic tumor nodules with fibrous septa

Micro description
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● Cells with abundant clear or granular, eosinophilic cytoplasm with sharp borders and irregular nuclei with vesicular chromatin and small nucleoli
● Cells are arranged in septa separated by thin-walled vessels in papilla or nests
● Calcifications are frequent
● A tubular / nested architecture is more common in t(6;11) tumors
● Some may show solid / acinar / alveolar / tubular patterns
● Mitoses are rare / absent
● Cases with TFE translocations rarely have melanin pigment and morphologically resemble PEComas (Am J Surg Pathol 2009;33:609)

Micro images
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Various images


t(6;11) tumors

Virtual slides
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Xp11.2 translocation-associated carcinoma

Positive stains
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● RCC, TFE3 (nuclear staining) or TFEB (nuclear staining), CD10, AMACR and vimentin
● Also E-cadherin (2/3), cytokeratin (30-50%, focal) 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)
● Also p21, cyclin D1 (Pathol Res Pract 2009;205:466)

Negative stains
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● CD45, HMB45 (some t(6;11) tumors show focal positivity), calretinin, smooth muscle actin and p53

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(6;11)(p21;q12) - TFEB and alpha genes; appear to have low malignant potential in contrast to other translocation carcinomas (Am J Surg Pathol 2005;29:230)
● Hereditary papillary carcinoma has t(X;1)(p11.2; p34) - fusion of TFE3 and PSF

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

Differential diagnosis
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Clear cell renal cell carcinoma: usually older patients, no papillary pattern, vimentin+, keratin+, TFE3-, 3p- and 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 sarcoma of kidney: TFE3-

End of Kidney tumor - cysts, children, adult benign > Childhood neoplasms > Translocation carcinoma


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