Publications

Authors:

Caliò, Anna; Marletta, Stefano; Settanni, Giulio; Rizzo, Mimma; Pedron, Serena; Stefanizzi, Lavinia; Munari, Enrico; Brunelli, Matteo; Marcolini, Lisa; Pesci, Anna; Fratoni, Stefano; Pierconti, Francesco; Raspollini, Maria Rosaria; Marchetti, Antonio; Doglioni, Claudio; Amin, Mahul B; Porta, Camillo; Martignoni, Guido; Gobbo, Stefano

Title:

mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy

Year:

2023

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

VIRCHOWS ARCHIV

ISSN of journal:

0945-6317

N° Volume:

483

Number or Folder:

6

:

Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229

Page numbers:

821-833

Keyword:

Cathepsin-K; Eosinophilic-RCC; Next-generation sequencing; Oncocytic; RCC; mTOR; mTOR inhibitors

Short description of contents:

: In the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of rapamycin (mTOR) and hitherto clinical indolent behavior has been described. Three cases (2F,1 M) with histologically documented metastases (lymph node, skull, and liver) were retrieved and extensively investigated by immunohistochemistry, FISH, and next-generation sequencing. Tumors were composed of eosinophilic cells with prominent nucleoli (G3 by ISUP/WHO) arranged in solid to nested architecture. Additionally, there were larger cells with perinuclear cytoplasmic shrinkage and sparse basophilic Nissl-like granules, superficially resembling the so-called spider cells of cardiac rhabdomyomas. The renal tumors, including the skull and liver metastases, showed immunoexpression PAX8, CK8-18, and cathepsin-K, and negativity for vimentin. NGS identified mTOR genetic alterations in the three cases, including the skull and liver metastases. One patient was then treated with Everolimus (mTOR inhibitors) with clinical response (metastatic tumor shrinkage). We present a distinct renal tumor characterized by high-grade eosinophilic cells, cathepsin-K immunohistochemical expression, and harboring mTOR gene mutations demonstrating a malignant potential and showing responsiveness to mTOR inhibitors.

Product ID:

136216

Handle IRIS:

11562/1113466

Last Modified:

September 28, 2024

Bibliographic citation:

Caliò, Anna; Marletta, Stefano; Settanni, Giulio; Rizzo, Mimma; Pedron, Serena; Stefanizzi, Lavinia; Munari, Enrico; Brunelli, Matteo; Marcolini, Lisa; Pesci, Anna; Fratoni, Stefano; Pierconti, Francesco; Raspollini, Maria Rosaria; Marchetti, Antonio; Doglioni, Claudio; Amin, Mahul B; Porta, Camillo; Martignoni, Guido; Gobbo, Stefano, mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy «VIRCHOWS ARCHIV» , vol. 483 , n. 6 , 2023 , pp. 821-833

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