Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?

Parilla, Megan; Kadri, Sabah; Patil, Sachin; Ritterhouse, Lauren L.; Segal, Jeremy P.; Henriksen, Kammi J.; Antic, Tatjana

doi:10.1097/pas.0000000000001067

Cited by 58 publications

(90 citation statements)

References 19 publications

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“…To date,~60 cases have been reported (not considering the unpublished examples from our personal files). 21,71,104,105,[107][108][109][110][111] In our view, some cases with typical microscopic features of ESC RCC have also been reported under different names. For example, two cases labelled 'oncocytoid RCC' have been recently reported in patients with a long latency after 71,104,105 The morphology of ESC RCCs found in TSC and non-TSC patients are, however, identical.…”

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 70%

“…We estimate its incidence to be ~0.2% in our institutional material. To date, ~60 cases have been reported (not considering the unpublished examples from our personal files) . In our view, some cases with typical microscopic features of ESC RCC have also been reported under different names.…”

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 72%

“…ESC RCC shows a molecular karyotype profile of a recurring and variable set of genomic alterations, which is different from any of the currently recognised renal neoplasms . Recent molecular studies have revealed that ESC RCC shows somatic, biallelic loss or mutation of TSC genes, specifically TSC1 or TSC2 …”

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 99%

“…105 Recent molecular studies have revealed that ESC RCC shows somatic, biallelic loss or mutation of TSC genes, specifically TSC1 or TSC2. 109,110 Atrophic kidney-like RCC Atrophic kidney-like RCC is a recently described entity with uncertain biologic behaviour. To date, five tumours in four patients have been reported.…”

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 99%

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New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and emerging/provisional renal entities, which were mostly generated after the recent classification of renal neoplasia. We include in this review the following new and emerging/provisional renal entities: succinate dehydrogenase‐deficient renal cell carcinoma, thyroid‐like follicular carcinoma of the kidney, anaplastic lymphoma kinase rearrangement‐associated renal cell carcinoma, renal cell carcinomas with prominent smooth muscle stroma, fumarate hydratase‐deficient renal cell carcinoma, biphasic squamoid papillary renal cell carcinoma, eosinophilic solid and cystic renal cell carcinoma, atrophic kidney‐like renal cell carcinoma, clear cell renal cell carcinoma with giant cells and emperipolesis, Warthin‐like papillary renal cell carcinoma, and low‐grade oncocytic renal tumour (CD117‐negative; cytokeratin 7‐positive). Some of these entities, such as succinate dehydrogenase‐deficient renal cell carcinoma, have already been recognised as new entities in the WHO classification, and some have been recognised as provisional/emerging entities. However, we include in this review several additional entities that, on the basis of the published evidence, also warrant this designation. We hope that this review will ease the navigation through this complex and evolving field, and will inform and stimulate new studies and discussions.

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Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 70%

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 72%

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 99%

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 99%

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New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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“…They are frequently positive for cytokeratin 20, which is highly unusual for any RCCs [132]. Both familiar and sporadic tumors have molecular alterations of TSC1 or TSC2 [133][134][135][136][137].…”

Section: Eosinophilic Solid and Cystic (Esc) Rccmentioning

confidence: 99%

Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach

Alaghehbandan

Montiel

Luís

et al. 2019

Cancers

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Renal epithelial cell tumors are composed of a heterogeneous group of tumors with variable morphologic, immunohistochemical, and molecular features. A "histo-molecular" approach is now an integral part of defining renal tumors, aiming to be clinically and therapeutically pertinent. Most renal epithelial tumors including the new and emerging entities have distinct molecular and genetic features which can be detected using various methods. Most renal epithelial tumors can be diagnosed easily based on pure histologic findings with or without immunohistochemical examination. Furthermore, molecular-genetic testing can be utilized to assist in arriving at an accurate diagnosis. In this review, we presented the most current knowledge concerning molecular-genetic aspects of renal epithelial neoplasms, which potentially can be used in daily diagnostic practice.

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Sclerosing TSC1 mutated renal cell carcinoma: An unusual pattern mimicking MITF family translocation renal cell carcinoma

Williamson

Cardili²,

Whiteley

et al. 2020

Genes Chromosomes & Cancer

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The tuberous sclerosis genes and MTOR are increasingly being found to have important roles in novel subtypes of renal cancer, particularly emerging entities eosinophilic solid and cystic renal cell carcinoma (RCC) and high‐grade oncocytic renal tumor (HOT)/RCC with eosinophilic and vacuolated cytoplasm. We report a unique renal neoplasm in a 66‐year‐old woman that initially mimicked MITF family translocation RCC due to mixed clear and eosinophilic cells, extensive stromal hyalinization, and psammoma bodies, yet which was negative for TFE3 and TFEB fluorescence in situ hybridization and a next generation sequencing (NGS) gene fusion assay. Cytoplasmic stippling triggered consideration of TSC‐associated neoplasms, and a targeted NGS assay revealed a variant in exon 21 of TSC1 resulting in c.2626G>T p.(Glu876*) truncating mutation. This report adds to the morphologic spectrum of TSC‐related renal neoplasms, including prominent stromal hyalinization as a potentially deceptive pattern. Due to the overlap in cytoplasmic stippling between eosinophilic solid and cystic RCC and HOT/RCC with eosinophilic and vacuolated cytoplasm, it is debatable which category this example would best fit. Further understanding of these entities and other renal neoplasms with alterations in the TSC genes will elucidate whether they should be considered a family of tumors.

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Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?

Cited by 58 publications

References 19 publications

New and emerging renal entities: a perspective post‐WHO 2016 classification

New and emerging renal entities: a perspective post‐WHO 2016 classification

Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach

Sclerosing TSC1 mutated renal cell carcinoma: An unusual pattern mimicking MITF family translocation renal cell carcinoma

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