[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex].

Carcinome rénal à stroma léiomyomateux avec métaplasie osseuse chez un patient porteur d’une sclérose tubéreuse de Bourneville.
Carcinome à cellules rénales Leiomyomatous stroma Mutation TSC2 Métaplasie osseuse Osseous metaplasia Renal cell carcinoma Sclérose tubéreuse Stroma léiomyomateux TSC2 gene mutation Tuberous sclerosis

Journal

Annales de pathologie
ISSN: 0242-6498
Titre abrégé: Ann Pathol
Pays: France
ID NLM: 8106337

Informations de publication

Date de publication:
Nov 2021
Historique:
received: 17 12 2018
revised: 22 01 2021
accepted: 14 06 2021
pubmed: 12 10 2021
medline: 16 11 2021
entrez: 11 10 2021
Statut: ppublish

Résumé

Renal cell carcinoma with leiomyomatous stroma is a rare and poorly described histopathological entity. Here we report a unique case with osseous metaplasia, in a 31-year-old man recently diagnosed with a tuberous sclerosis complex (TSC2 gene mutation). Partial nephrectomy was performed. Histologically, the epithelial component was made up of papillary and alveolar structures with clear to eosinophilic cytoplasm, and basally located nuclei. The cells are surrounded by an abundant smooth muscle stroma with focally osseous metaplasia. The tumor was positive for carbonic anhydrase IX, cytokeratin 7, cytokeratin 20, and CD10, and negative for TFE3. This emerging entity is highly correlated to tuberous sclerosis complex, which justifies a screening for the syndrome when this diagnosis is made.

Identifiants

pubmed: 34629215
pii: S0242-6498(21)00166-8
doi: 10.1016/j.annpat.2021.06.005
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Case Reports Journal Article

Langues

fre

Sous-ensembles de citation

IM

Pagination

557-560

Informations de copyright

Copyright © 2021 Elsevier Masson SAS. All rights reserved.

Auteurs

Camille Gandon (C)

Service d'Anatomie et Cytologie Pathologiques, Centre Hospitalo-Universitaire de Rennes, 2 rue Henri Le Guilloux, 35000 Rennes. Electronic address: camille.gandon@chu-rennes.fr.

Marjorie Gournay (M)

Service d'Anatomie et Cytologie Pathologiques, Centre Hospitalo-Universitaire de Rennes, 2 rue Henri Le Guilloux, 35000 Rennes.

Frédéric Dugay (F)

Service de Cytogénétique, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Karim Bensalah (K)

Service d'Urologie, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Romain Mathieu (R)

Service d'Urologie, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Grégory Verhoest (G)

Service d'Urologie, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Benoît Peyronnet (B)

Service d'Urologie, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Marc-Antoine Belaud-Rotureau (MA)

Service de Cytogénétique, Centre Hospitalo-Universitaire de Rennes, 2, rue Henri Le Guilloux, 35000 Rennes.

Nathalie Rioux-Leclercq (N)

Service d'Anatomie et Cytologie Pathologiques, Centre Hospitalo-Universitaire de Rennes, 2 rue Henri Le Guilloux, 35000 Rennes.

Solène-Florence Kammerer-Jacquet (SF)

Service d'Anatomie et Cytologie Pathologiques, Centre Hospitalo-Universitaire de Rennes, 2 rue Henri Le Guilloux, 35000 Rennes.

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Classifications MeSH