Pubblicazioni

Autori:

Marletta, Stefano; Caliò, Anna; Pierconti, Francesco; Harada, Shuko; Netto, George J; Antonini, Pietro; Segala, Diego; Pedron, Serena; Marcolini, Lisa; Stefanizzi, Lavinia; Martignoni, Guido

Titolo:

SFPQ::TFE3-rearranged PEComa: Differences and analogies with renal cell carcinoma carrying the same translocation

Anno:

2025

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

No

Nome rivista:

Pathology. Research and Practice

ISSN Rivista:

0344-0338

N° Volume:

270

Intervallo pagine:

1-11

Parole chiave:

Cathepsin K; Immunohistochemistry; PEComa; SFPQ::TFE3 fusion; TFE3-rearranged renal cell carcinoma

Breve descrizione dei contenuti:

: Among perivascular epithelioid cell neoplasms (PEComas), some tumors have been found to carry rearrangements of the TFE3 gene. Such tumors can rarely occur in the kidney, closely resembling TFE3-rearranged renal cell carcinoma. This study describes one additional case of TFE3-rearranged PEComa, two TFE3-rearranged renal cell carcinomas, and a detailed literature review. All three tumors were composed of nested clear to eosinophilic cells with peculiar morphological findings in each case. By immunohistochemistry, PEComa expressed cathepsin K, HMB45, and CD68 (PG-M1), while labeling negative for PAX8, Melan-A, S100, smooth muscle actin, desmin, CD10, CD13, and keratins 7 and AE1/AE3. Conversely, both TFE3-rearranged renal cell carcinomas were positive for PAX8, HMB45, and CD10, alongside staining negative for CD68 (PG-M1), Melan-A, CD13, and keratins. One of them expressed cathepsin K. TFE3 gene rearrangement was identified in all three cases by FISH, along with SFPQ::TFE3 fusion by molecular analysis. Our cases, combined with a comprehensive literature review, highlight several key differences and similarities: SFPQ::TFE3-rearranged PEComas lack the pseudorosettes frequently observed in SFPQ::TFE3-rearranged renal cell carcinoma, although both may exhibit nested epithelioid morphology. Both tumor types can be positive for cathepsin K and melanogenesis markers and negative for smooth muscle markers. However, PAX8, keratins, and CD10 were expressed in TFE3-rearranged renal cell carcinoma while CD68(PG-M1) was positive in PEComa. Notably, the SFPQ gene is the most common fusion partner in TFE3-rearranged PEComas, while it is the third most frequent one in TFE3-rearranged renal cell carcinoma. Nevertheless, the exon breakpoints are analogous in both tumor types.

Note:

Available online 10 April 2025, Version of Record 15 April 2025

Id prodotto:

145333

Handle IRIS:

11562/1160404

ultima modifica:

8 maggio 2025

Citazione bibliografica:

Marletta, Stefano; Caliò, Anna; Pierconti, Francesco; Harada, Shuko; Netto, George J; Antonini, Pietro; Segala, Diego; Pedron, Serena; Marcolini, Lisa; Stefanizzi, Lavinia; Martignoni, Guido, SFPQ::TFE3-rearranged PEComa: Differences and analogies with renal cell carcinoma carrying the same translocation «Pathology. Research and Practice» , vol. 270 , 2025 , pp. 1-11

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