Primary renal sarcoma with <scp>SS18</scp>::<scp>POU5F1</scp> gene fusion

Argani, Pedram; Matoso, Andrés; Gross, John M.; Zhang, Yanming; SoRelle, Jeffrey A.; Gagan, Jeffrey; Antonescu, Cristina R.; Palsgrove, Doreen N.

doi:10.1002/gcc.23053

Cited by 4 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Altogether, phenotypic studies on sarcomas, even those defined on genetic grounds, should significantly improve the quality of care for sarcoma patients. Finally, we are aware that some round cell sarcomas remain, including those harboring EWSR1::PATZ1 , 84 , 85 , 86 CRTC1::SS18 , 87 , 88 and SS18::POU5F1 , 89 , 90 , 91 in which the reported tumor phenotypes are inconsistent and/or the studied cases are few, and, therefore, their diagnosis solely depends on the identification of genetic abnormalities. Further studies should be conducted to determine whether these tumors have a specific recognizable histology.…”

Section: Discussionmentioning

confidence: 99%

Ewing and Ewing‐like sarcomas: A morphological guide through genetically‐defined entities

Yoshida

2022

Pathology International

View full text Add to dashboard Cite

The fifth edition of the World Health Organization classification of soft tissue and bone tumors redefined Ewing sarcoma by fusions between EWSR1/FUS and ETS family of transcription factors, and recognized three tumor groups among Ewing‐like sarcoma: CIC‐rearranged sarcoma, sarcoma with BCOR genetic alterations, and round cell sarcoma with EWSR1::non‐ETS fusions. Although this classification underscores the critical role of molecular genetics in the diagnosis of small round cell sarcoma, each entry is recognized as a specific entity not only because they have different genetics but because their phenotypes are distinct and reasonably robust to support the diagnosis. This review focuses on the morphological aspects of Ewing sarcoma and a subset of Ewing‐like sarcomas (CIC‐rearranged sarcoma, BCOR‐associated sarcoma, and EWSR1::NFATC2 sarcoma) for which phenotypic characteristics have been well established. Classic histological findings, uncommon variations, and recurrent diagnostic pitfalls are addressed, along with the utility of recently developed immunohistochemical markers (NKX2.2, PAX7, ETV4, BCOR, CCNB3, and NKX3.1). Phenotypic expertise would significantly expedite the diagnostic process and complement (or sometimes outperform) genetic testing, even in well‐resourced settings. Morphological knowledge plays an even more substantial role in facilities that do not have easy access to molecular testing.

show abstract

Section: Discussionmentioning

confidence: 99%

Ewing and Ewing‐like sarcomas: A morphological guide through genetically‐defined entities

Yoshida

2022

Pathology International

View full text Add to dashboard Cite

show abstract

“…Targeted RNA sequencing was performed as previously described 15 with approval by the Institutional Review Board (IRB# STU-2019-1775). Briefly, the tumor tissue was scrapped from 5-micron FFPE sections, followed by RNA extraction and purification.…”

Section: Case Reportmentioning

confidence: 99%

Multicystic Clear Cell Renal Tumors With Low-grade Nuclear Features: Time to Include TFE3 Translocation-associated Carcinomas

Cai,

Gagan,

Koduru

et al. 2023

Advances in Anatomic Pathology

Self Cite

View full text Add to dashboard Cite

TFE3-rearranged renal cell carcinoma (RCC) is a distinct, uncommon entity with more than 20 different fusion partners identified; however, histomorphology may be suggestive of specific fusion partners in select TFE3-rearranged RCCs. For example, most MED15::TFE3 fusion associated RCCs exhibit multilocular cystic morphology, mimicking multilocular cystic renal neoplasm of low malignant potential. Here we present a case of MED15::TFE3 RCC in an older adult and review the literature with an emphasis on practical diagnostic approaches for predominantly cystic, low-grade, clear cell renal tumors.

show abstract

Primary renal sarcoma with SS18::POU5F1 gene fusion

Argani

Matoso

Gross

et al. 2022

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

We report the first case of a primary renal undifferentiated sarcoma harboring an SS18::POU5F1 gene fusion. The patient was a 38 year‐old male diagnosed with a 5 cm renal tumor which invaded the adrenal gland and extended into the renal vein. Microscopically, the neoplasm had a predominantly undifferentiated round cell morphology, with areas of rhabdoid and spindle cell growth. Similar to the previously reported cases with this fusion, by immunohistochemistry the neoplasm expressed S100 protein and epithelial markers (diffuse EMA, focal cytokeratin), suggesting the possibility of a myoepithelial phenotype. This report documents another example of a fusion‐positive undifferentiated soft tissue sarcoma occurring as a primary renal neoplasm, adding to the already broad list of such entities. It highlights the crucial role of molecular analysis in establishing a specific diagnosis given the overlapping morphology and immunophenotypes such entities may exhibit.

show abstract

Primary renal sarcoma with SS18::POU5F1 gene fusion

Cited by 4 publications

References 20 publications

Ewing and Ewing‐like sarcomas: A morphological guide through genetically‐defined entities

Ewing and Ewing‐like sarcomas: A morphological guide through genetically‐defined entities

Multicystic Clear Cell Renal Tumors With Low-grade Nuclear Features: Time to Include TFE3 Translocation-associated Carcinomas

Primary renal sarcoma with SS18::POU5F1 gene fusion

Contact Info

Product

Resources

About