Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity
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Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity Marjorie Gournay 1 & Frédéric Dugay 2 & Marc-Antoine Belaud-Rotureau 2 & Benoit Peyronnet 3 & Romain Mathieu 3 & Gregory Verhoest 3 & Karim Bensalah 3 & Sylvie Odent 4 & Philippe Denizeau 4 & Cécile Vigneau 5 & Aurélien Morini 6 & Nathalie Rioux-Leclercq 1 & Solène-Florence Kammerer-Jacquet 1 Received: 22 June 2020 / Revised: 30 July 2020 / Accepted: 10 August 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Renal cell carcinoma with leiomyomatous stroma (RCCLS) is an emerging entity frequently associated with tuberous sclerosis complex (TSC). We described herein a series of RCCLS in TSC patients at pathological and cytogenetic levels. Three male patients with TSC and RCCLS were identified between 2000 and 2019 at the University Hospital of Rennes. Histologically, the architecture was tubulo-papillary with thick bundles of smooth muscle cells. The tumor cells showed clear cytoplasm with eosinophilic globules. The immunohistochemical profile was identical with an intense positivity of CK7, CAIX, and CD10 and a heterogeneous positivity of CK20. SDHB was low but positive and TFE3 was not expressed. Comparative genomic hybridization (CGH) did not show any quantitative chromosome abnormality. No recurrence was observed with a median follow-up of 4 years. RCCLS in TSC patients has morphological, immunohistochemical, and cytogenetic distinct features that could constitute a distinct entity and a sentinel manifestation for the diagnosis of TSC. Keywords Renal cell carcinoma . Leiomyomatous stroma . Tuberous sclerosis complex . TSC1 . TSC2
Introduction Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by multisystemic tumors (brain, skin, heart, lungs, and kidneys) and hamartomas. This disease is Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00428-020-02910-9) contains supplementary material, which is available to authorized users. * Marjorie Gournay [email protected] 1
Department of Pathology, University Hospital, 2 rue Henri le Guilloux, 35000 Rennes, France
2
Department of Cytogenetics, University Hospital, 35000 Rennes, France
3
Department of Urology, University Hospital, 35000 Rennes, France
4
Department of Genetic, University Hospital, 35000 Rennes, France
5
Department of Nephrology, University Hospital, 35000 Rennes, France
6
Department of Pathology, Georges Pompidou European Hospital, Paris, France
caused by alterations in TSC1 or TSC2 genes, which encode hamartin and tuberin respectively and form the TSC protein complex that regulate mTOR pathway, and thus increase protein translation, cell growth, decreased autophagy, and metabolic adaptations favoring the emergence of tumors [1]. Renal involvement in TSC is largely represented by angiomyolipoma with a minority of renal cell carcinoma (RCC) (2–5%). Yang et al. reported 46 renal epithelial tumors from 19 TSC patients distribute
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