Putative Drivers of Aggressiveness in TCEB1-mutant Renal Cell Carcinoma: An Emerging Entity with Variable Clinical Course

DiNatale, Renzo G.; Gorelick, Alexander N.; Makarov, Vladimir; Blum, Kyle A.; Silagy, Andrew W.; Freeman, Benjamin; Chowell, Diego; Marcon, Julian; Sánchez, Àlex; Attalla, Kyrollis; Weng, Stanley; Voss, Martin H.; Motzer, Robert J.; Russo, Paul; Coleman, Jonathan; Reuter, Victor E.; Chen, Ying-Bei; Chan, Timothy A.; Reznik, Ed; Tickoo, Satish K.; Hakimi, A. Ari

doi:10.1016/j.euf.2019.11.013

Cited by 32 publications

(40 citation statements)

References 28 publications

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“…These tumors are often accompanied by loss of chromosome 8 (often in the form of monosomy). These new entity resembles ccRCC, express CAIX as well, and usually present thick fibromuscular bands transecting the tumor and clear cell cytology with voluminous Although initial data on this subset suggested that they are nonaggressive, recent reports of aggressive behaviour have been published (53)(54)(55)(56). fusions, and increased expression of the NRF2-antioxidant response element pathway) and composed by multiple specific neoplasms rather than a single specific entity.…”

Section: Tceb1 Renal Cell Carcinomamentioning

confidence: 99%

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

Cimadamore¹,

Liu²,

Scarpelli³

et al. 2021

Transl Androl Urol

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In 1952, renal cell carcinomas had been divided into 2 categories-clear cell or granular celldepending upon their cytoplasmic staining characteristics. In the following years, the inventory of renal epithelial tumors has expanded by the addition of tumors named by their architectural pattern (i.e., papillary RCC, tubulocystic RCC), anatomic location (i.e., collecting duct carcinoma, renal medullary carcinoma), associated diseases (i.e., acquired cystic disease-associated RCCs). With the extensive application of molecular diagnostic techniques, it becomes possible to detect genetic distinctions between various types of renal neoplasm and discover new entities, otherwise misdiagnosed or diagnosed as unclassified RCC. Some tumors such as ALK rearrangement-associated RCC, MiT family translocation renal carcinomas, SDHdeficient renal cancer or FH-deficient RCC, are defined by their molecular characteristics. The most recent World Health Organization (WHO) classification of renal neoplasms account for more than 50 entities and provisional entities. New entities might be included in the upcoming WHO classification. The aim of this review is to summarise and discuss the newly acquired data and evidence on the clinical, pathological, molecular features and on the prognosis of new RCC entities, which will hopefully increase the awareness and the acceptance of these entities among clinicians and improve prognostication for individual patients.

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Section: Tceb1 Renal Cell Carcinomamentioning

confidence: 99%

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

Cimadamore¹,

Liu²,

Scarpelli³

et al. 2021

Transl Androl Urol

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show abstract

Section: Introductionmentioning

confidence: 99%

“…15-17 In 2001, Argani et al described the first 2 pediatric cases with this recurrent translocation and characteristic biphasic histomorphology—an admixture of large epithelioid clear cells and smaller cells surrounding eosinophilic basement membrane-type substance. 7,16-20…”

Section: Introductionmentioning

confidence: 99%

“…2 The most nascent subset is defined by the presence of particular genetic alterations, including but not limited to pathogenic mutation (TCEB1-mutated RCC), or gene rearrangement-as we describe in this article. [3][4][5][6][7] A substantial proportion of RCCs characterized by translocations involve the MiT transcription factor family, which encompasses genes TFE3, TFEB, TFEC, and MiTF. Translocations involving TFEB (transcription factor EB) on chromosome 6 most commonly partner with MALAT1/α (metastases-associated lung adenocarcinoma transcript 1, a long noncoding RNA) on chromosome 11.…”

Section: Introductionmentioning

confidence: 99%

“…[15][16][17] In 2001, Argani et al described the first 2 pediatric cases with this recurrent translocation and characteristic biphasic histomorphology-an admixture of large epithelioid clear cells and smaller cells surrounding eosinophilic basement membrane-type substance. 7,[16][17][18][19][20] Our aim here is to describe the histology and molecular phenotype of 2 renal tumors using RNA-based next-generation sequencing (NGS): one with a CLTC-TFEB fusion and another with a heretofore unreported NEAT1-TFEB fusion. The diagnostic challenges and pitfalls of the workup are highlighted therein.…”

Section: Introductionmentioning

confidence: 99%

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A Tale of 2 Morphologies: Diagnostic Pitfalls inTFEB-Associated Renal Cell Carcinomas, Including a NovelNEAT1-TFEBFusion

et al. 2020

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Aims Translocation-associated renal cell carcinomas (RCCs) have been extensively subcharacterized in recent years, such that each is largely recognized by the 2016 World Health Organization as categorical neoplastic entities in the genitourinary tract. Those belonging to the t(6;11) family of tumors classically have a fusion between TFEB and MALAT1/α, and display a particular histomorphology. Specifically, they show a biphasic population of both small and large epithelioid cells, the smaller component of which surrounds basement membrane-type material. Despite this apt description, the tumors have variable morphology and mimic other RCCs including those with TFE3 translocations. Therefore, a high degree of suspicion is required to make the correct diagnosis. Methods The 2 cases described in this article were of strikingly different appearance, and initially considered consistent with other non-translocation–associated renal tumors. These included clear cell RCC (CCRCC), perivascular epithelioid cell tumor (PEComa), and other eosinophilic RCCs (mainly papillary RCC type 2). Results Using RNA sequencing techniques, they were found to harbor distinct pathogenic rearrangements involving the TFEB gene, namely, fusions with CLTC and NEAT1 (the latter partnering heretofore never reported). Conclusions These alterations manifested in 2 notably dissimilar lesions, underscoring the importance of including this family of carcinomas in the differential of any renal neoplasm that does not display immunophenotypic characteristics consistent with its morphology.

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Molecular Pathology of Kidney Tumors

Al-Obaidy,

Alruwaii,

Mohanty

et al. 2023

Molecular Surgical Pathology

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Putative Drivers of Aggressiveness in TCEB1-mutant Renal Cell Carcinoma: An Emerging Entity with Variable Clinical Course

Cited by 32 publications

References 28 publications

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

A Tale of 2 Morphologies: Diagnostic Pitfalls inTFEB-Associated Renal Cell Carcinomas, Including a NovelNEAT1-TFEBFusion

Molecular Pathology of Kidney Tumors

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