Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity

Gournay, Marjorie; Dugay, Frédéric; Belaud‐Rotureau, Marc‐Antoine; Peyronnet, B.; Mathiéu, Romain; Verhoest, G.; Bensalah, Karim; Odent, Sylvie; Denizeau, Philippe; Vigneau, Cécile; Morini, Aurélien; Rioux‐Leclercq, Nathalie; Kammerer‐Jacquet, Solène‐Florence

doi:10.1007/s00428-020-02910-9

Cited by 12 publications

(7 citation statements)

References 14 publications

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“…An awareness of the spectrum of AML histologies, such as “fat-poor” AML, angiomyolipoma with entrapped epithelial cysts (AMLEC), sclerosing AML, and AML with oncocytic features, can prevent misdiagnosis [ 24 , 39 , 40 , 41 ] ( Figure 1 ). Epithelioid AML (epithelioid PEComa) is a rare variant composed of ≥80% epithelioid cells ( Figure 1 ).…”

Section: Renal Tumors With Tsc/mtor Pathway Gene Alterations and Thei...mentioning

confidence: 99%

“…The name “renal cell carcinoma with fibromyomatous stroma” (RCC FMS) was officially endorsed by the GUPS in 2021 [ 34 ]. RCC FMS is commonly observed in the sporadic setting, but morphologically, immunohistochemically, and molecularly identical tumors have also been described as the most common RCC in TSC patients [ 1 , 2 , 24 , 41 ]. In the sporadic setting, RCC FMS is often associated with mutations involving the TSC1 / TSC2 or MTOR genes [ 24 , 34 , 47 ].…”

Section: Renal Tumors With Tsc/mtor Pathway Gene Alterations and Thei...mentioning

confidence: 99%

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Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

Kapur

Brugarolas

Trpkov

2023

Cancers

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A spectrum of renal tumors associated with frequent TSC/mTOR (tuberous sclerosis complex/mechanistic target of rapamycin) pathway gene alterations (in both the germline and sporadic settings) have recently been described. These include renal cell carcinoma with fibromyomatous stroma (RCC FMS), eosinophilic solid and cystic renal cell carcinoma (ESC RCC), eosinophilic vacuolated tumor (EVT), and low-grade oncocytic tumor (LOT). Most of these entities have characteristic morphologic and immunohistochemical features that enable their recognition without the need for molecular studies. In this report, we summarize recent advances and discuss their evolving complexity.

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Section: Renal Tumors With Tsc/mtor Pathway Gene Alterations and Thei...mentioning

confidence: 99%

Section: Renal Tumors With Tsc/mtor Pathway Gene Alterations and Thei...mentioning

confidence: 99%

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

Kapur

Brugarolas

Trpkov

2023

Cancers

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“…This entity is difficult to distinguish from a variety of benign and malignant neoplasms, such as clear cell renal cell carcinoma with degenerative fibrosis or hemangioma-like changes, sarcomatoid renal cell carcinoma, clear cell (tubulo)papillary RCC, renal angiomyoadenomatous tumors (RAT), epithelioid angiomyolipoma, and mixed epithelial stromal tumor of the kidney [14]. The distinction between these entities often requires an immunohistochemical study, the profile of which has varied greatly in the different cases published until today.…”

Section: Discussionmentioning

confidence: 99%

Renal Cell Carcinoma With Fibromyomatous Stroma: A New Case

Haouane¹,

Hajji²,

Ghoundale³

et al. 2022

Cureus

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In the 2016 World Health Organization (WHO) classification of renal tumors, renal cell carcinoma with fibromyomatous stroma (RCC FMS) (formerly RCC with leiomyomatous or smooth muscle stroma) was classified as an emerging or provisional entity of renal cell carcinoma (RCC).We report a rare case of RCC FMS in a 62-year-old male patient with hypertension, type II diabetes mellitus, and early chronic kidney disease. He was referred to the Department of Urology for an incidental finding of a 2-cm-long left renal nodule on a routine abdominal ultrasound. A laparoscopic right partial nephrectomy was performed. Histopathology and immunohistochemistry studies confirm the diagnosis of RCC FMS.The purpose of this work is to review and discuss newly acquired data and evidence on the clinical, pathological, immunohistochemical, molecular, and prognostic aspects of this unusual entity in the hopes of assisting pathologists in accurate diagnosis.

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“…The majority of these tumors are seen in a sporadic setting; 10 however, identical tumors have been found in patients with TSC, 17 suggesting the existence of hereditary and sporadic counterparts of this tumor. RCCFMS occurs more frequently in women (M: F=1:2) and is seen in adults of a broad age range.…”

Section: Renal Cell Carcinoma With Fibromyomatous Stromamentioning

confidence: 95%

“…16 Recent studies have demonstrated that RCCFMS indeed represents a distinct entity that can be separated from other RCC which exhibit clear cells, as well as tubulopapillary morphology and prominent smooth muscle/fibromatous stroma, such as clear cell RCC and clear cell papillary renal cell tumor (CCPRCT). 9,10 The majority of these tumors are seen in a sporadic setting; 10 however, identical tumors have been found in patients with TSC, 17 suggesting the existence of hereditary and sporadic counterparts of this tumor. RCCFMS occurs more frequently in women (M: F = 1:2) and is seen in adults of a broad age range.…”

Section: Renal Cell Carcinoma With Fibromyomatous Stromamentioning

confidence: 98%

Renal Cell Carcinoma Associated With TSC/MTOR Genomic Alterations: An Update on its Expanding Spectrum and an Approach to Clinicopathologic Work-up

Shah,

Mehra

2023

Advances in Anatomic Pathology

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Renal cell carcinoma (RCC) with tuberous sclerosis complex (TSC)/mammalian target of rapamycin (MTOR) pathway-related genomic alterations have been classically described in hereditary TSC syndrome setting involving germline mutations, whereby cells with a bi-allelic inactivation of genes originate tumors in a classic tumor-suppressor “two-hit” Knudson paradigm. Initial studies of TSC-associated RCC categorized tumors into 3 broad heterogeneous morphologic groups: RCC with smooth muscle stroma, chromophobe-like, and eosinophilic-macrocytic. Recently, a similar morphologic spectrum has been increasingly recognized in novel and emerging entities characterized by somatic mutations in the TSC1/2 and MTOR in patients who do not suffer from the TSC. Correct recognition of RCC with TSC/MTOR mutations is critical for accurate prognostication because such tumors with aggressive behavior have the potential to be tailored to mTOR inhibitors. Whether TSC/MTOR mutated renal epithelial neoplasms represent a distinct molecular class has been confounded by the fact that TSC1/2, and the gene encoding the downstream protein MTOR, are mutated secondarily in ∼5% of the more common subtypes of RCC, including the commonest subtype of clear cell RCC. This review summarizes the expanding morphologic spectrum of renal tumors with TSC/mTOR pathway alterations, specifically for sporadically occurring tumors where these genomic alterations likely are primary pathologic events. Finally, a practical surgical pathology approach to handling these tumors, and a conceptual framework of renal epithelial tumors with TSC/MTOR mutations as a “family of tumors”, is presented.

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Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity

Cited by 12 publications

References 14 publications

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

Renal Cell Carcinoma With Fibromyomatous Stroma: A New Case

Renal Cell Carcinoma Associated With TSC/MTOR Genomic Alterations: An Update on its Expanding Spectrum and an Approach to Clinicopathologic Work-up

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