Recent Advances in Pediatric Renal Neoplasia

Argani, Pedram; Ladanyi, Marc

doi:10.1097/00125480-200309000-00001

Cited by 99 publications

(58 citation statements)

References 86 publications

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“…[66][67][68][69] In the pediatric literature they have sometimes been referred to as 'juvenile carcinomas'. Most translocation carcinomas (about 90%) involve the transcription factor E3 (TFE3) located on Xp11.2.…”

Section: Translocation Carcinomamentioning

confidence: 99%

“…66,67,69 There are rare examples of genetically confirmed translocation carcinomas where weak or absent TFE3 staining was noted; however, in general a moderate to strong nuclear staining pattern should be recognizable at relatively low magnification. 66,71 Ultrastructurally, most Xp11.2 carcinomas show features, including intracytoplasmic fat and glycogen, microvilli and cell junctions, similar to clear cell renal cell carcinoma. 67 Most ASPL-TFE3 carcinomas contain membrane bound cytoplasmic granules and occasionally rhomboidal crystals identical to those seen in alveolar soft part sarcoma.…”

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confidence: 99%

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Uncommon and recently described renal carcinomas

2009

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Major consensus conferences held over a decade ago laid the foundations for the current (2004) WHO classification of renal carcinoma. Clear cell, papillary and chromophobe carcinomas account for 85-90% carcinomas seen in routine practice. The remaining 10-15% of carcinomas consist of rare sporadic and hereditary tumors, some of which had been long recognized, but many of which only emerged as distinct entities in the decade leading up to the WHO publication. Collecting-duct carcinoma is a rare, often lethal form of carcinoma. Medullary carcinoma associated with sickle cell trait, has emerged as a distinctive tumor showing some overlapping features with upper tract urothelial carcinoma. Mucinous tubular and spindle-cell carcinoma and tubulocystic carcinoma were earlier considered as patterns of low-grade collecting-duct carcinoma, but are now recognized as separate tumor entities. Carcinomas associated with somatic translocations of TFE3 and TFEB comprise a significant proportion of pediatric renal carcinomas. Oncocytoid renal carcinomas in neuroblastoma survivors was recognized as a unique tumor category in the WHO classification. Renal carcinoma associated with end-stage renal disease is now recognized as having distinct morphological patterns and behavior. In addition there is a group of rare recently described carcinomas, including clear cell papillary carcinoma, oncocytic papillary renal cell carcinoma, follicular renal carcinoma and leiomyomatous renal cell carcinoma. It behooves the surgical pathologist to not only be capable of diagnosing the common forms of renal cancer, but also to be aware of the rare types of renal carcinoma, many of which have emerged in recent years.

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Section: Translocation Carcinomamentioning

confidence: 99%

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confidence: 99%

Uncommon and recently described renal carcinomas

2009

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“…The genetic lesions are translocations that lead to dramatic overexpression of TFE3 or TFEB protein sequences. Five different genetic loci have been identified as translocation partners for TFE3, which lead to the creation of a chimeric protein containing the translocation partner at the N terminus fused to the C-terminal portion of TFE3 which includes its DNA binding and multimerization domains (1). TFEB translocations result in promoter substitution and do not change the coding sequence (2,3).…”

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confidence: 99%

Renal Carcinoma-associated Transcription Factors TFE3 and TFEB Are Leukemia Inhibitory Factor-responsive Transcription Activators of E-cadherin

Huan

Sashital

Hailemariam

et al. 2005

Journal of Biological Chemistry

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Translocations of the genes encoding the related transcription factors TFE3 and TFEB are almost exclusively associated with a rare juvenile subset of renal cell carcinoma and lead to overexpression of TFE3 or TFEB protein sequences. A better understanding of how deregulated TFE3 and TFEB contribute to the transformation process requires elucidating more of the normal cellular processes in which they participate. Here we identify TFE3 and TFEB as cell type-specific leukemia inhibitory factor-responsive activators of E-cadherin. Overexpression of TFE3 or TFEB in 3T3 cells activated endogenous and reporter E-cadherin expression. Conversely, endogenous TFE3 and/or TFEB was required for endogenous E-cadherin expression in primary mouse embryonic fibroblasts and human embryonic kidney cells. Chromatin precipitation analyses and E-cadherin promoter reporter gene assays revealed that Ecadherin induction by TFE3 or TFEB was primarily or exclusively direct and mitogen-activated protein kinasedependent in those cell types. In mouse embryonic fibroblasts, TFE3 and TFEB activation of E-cadherin was responsive to leukemia inhibitory factor. In 3T3 cells, TFE3 and TFEB expression also induced expression of Wilms' tumor-1, another E-cadherin activator. In contrast, E-cadherin expression in model mouse and canine renal epithelial cell lines was indifferent to inhibition of endogenous TFE3 and/or TFEB and was reduced by TFE3 or TFEB overexpression. These results reveal new cell type-specific activities of TFE3 and TFEB which may be affected by their mutation.Deregulated expression of the related transcription factors TFE3 and TFEB is associated with rare, juvenile forms of the malignancy renal cell carcinoma (RCC), and TFE3 mutation with alveolar soft part sarcoma (for review, see Ref. 1). The genetic lesions are translocations that lead to dramatic overexpression of TFE3 or TFEB protein sequences. Five different genetic loci have been identified as translocation partners for TFE3, which lead to the creation of a chimeric protein containing the translocation partner at the N terminus fused to the C-terminal portion of TFE3 which includes its DNA binding and multimerization domains (1). TFEB translocations result in promoter substitution and do not change the coding sequence (2, 3). Although there is evidence that TFE3 fusion partners contribute oncogenic properties to the fusion protein (4, 5), TFEB overexpression in RCC 1 and the ability of normal TFE3 to promote clonotypic growth of melanoma cells suggest that overexpression of the TFE3 protein sequence is a critical oncogenic force (2). Moreover, TFE3, and to a lesser extent, TFEB, have been implicated in several cytokine signaling pathways that control cell growth and differentiation, but the precise mechanisms by which their dysregulation contributes to renal oncogenesis are not clear.TFE3 and TFEB are closely related members of the Mi/TFE3 (MiT) transcription factor family that includes TFEC and the microphthalmia (mi) transcription factor Mitf (6). TFE3 or TFEB overexpress...

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“…Zelluläre mesoblastische Nephrome zeigen damit nicht nur eine identische Histologie und Ultrastruktur wie infantile Fibrosarkome [22], sondern zudem die gleiche Translokation wie infantile Fibrosarkome, welche zur Expression des ETV6-NTRK3-Transkripts führt [4,22]. Die zelluläre Variante des mesoblastischen Nephroms scheint somit eine in der Niere lokalisierte Variante des infantilen Fibrosarkoms mit der identischen genomischen Translokation t(12;15)(p13;q25) zu repräsentieren [5].…”

Section: Genetische Parameterunclassified