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

被引：9

作者：

Gournay, Marjorie ^{[1
]}

Dugay, Frederic ^{[2
]}

Belaud-Rotureau, Marc-Antoine ^{[2
]}

Peyronnet, Benoit ^{[3
]}

Mathieu, Romain ^{[3
]}

Verhoest, Gregory ^{[3
]}

Bensalah, Karim ^{[3
]}

Odent, Sylvie ^{[4
]}

Denizeau, Philippe ^{[4
]}

Vigneau, Cecile ^{[5
]}

Morini, Aurelien ^{[6
]}

Rioux-Leclercq, Nathalie ^{[1
]}

Kammerer-Jacquet, Solene-Florence ^{[1
]}

机构：

[1] Univ Hosp, Dept Pathol, 2 Rue Henri Guilloux, F-35000 Rennes, France

[2] Univ Hosp, Dept Cytogenet, F-35000 Rennes, France

[3] Univ Hosp, Dept Urol, F-35000 Rennes, France

[4] Univ Hosp, Dept Genet, F-35000 Rennes, France

[5] Univ Hosp, Dept Nephrol, F-35000 Rennes, France

[6] Georges Pompidou European Hosp, Dept Pathol, Paris, France

来源：

VIRCHOWS ARCHIV | 2021年 / 478卷 / 04期

关键词：

Renal cell carcinoma; Leiomyomatous stroma; Tuberous sclerosis complex; TSC1; TSC2;

D O I：

10.1007/s00428-020-02910-9

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：793 / 799

页数：7

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