The expanding family of SMARCB1 (INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity

A Agaimy - Advances in anatomic pathology, 2014 - journals.lww.com
Since the description of atypical teratoid/rhabdoid tumors of the central nervous system and
renal/extrarenal malignant rhabdoid tumors in children, the clinicopathologic spectrum of …

SMARCB1-deficient Tumors of Childhood: A Practical Guide

BR Pawel - Pediatric and Developmental Pathology, 2018 - journals.sagepub.com
The SMARCB1 gene (INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable
(SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene …

A novel SS18-SSX fusion-specific antibody for the diagnosis of synovial sarcoma

E Baranov, MJ McBride, AM Bellizzi… - The American journal …, 2020 - journals.lww.com
Synovial sarcoma (SS), an aggressive soft tissue sarcoma with a predilection for the
extremities of young adults, harbors the pathognomonic t (X; 18)(p11; q11) translocation …

The SS18-SSX fusion oncoprotein hijacks BAF complex targeting and function to drive synovial sarcoma

MJ McBride, JL Pulice, HC Beird, DR Ingram… - Cancer cell, 2018 - cell.com
Synovial sarcoma (SS) is defined by the hallmark SS18-SSX fusion oncoprotein, which
renders BAF complexes aberrant in two manners: gain of SSX to the SS18 subunit and …

A role for SMARCB1 in synovial sarcomagenesis reveals that SS18–SSX induces canonical BAF destruction

J Li, TS Mulvihill, L Li, JJ Barrott, ML Nelson, L Wagner… - Cancer discovery, 2021 - AACR
Reduced protein levels of SMARCB1 (also known as BAF47, INI1, SNF5) have long been
observed in synovial sarcoma. Here, we show that combined Smarcb1 genetic loss with …

Identification of novel SSX1 fusions in synovial sarcoma

A Yoshida, Y Arai, K Satomi, T Kubo, E Ryo… - Modern …, 2022 - nature.com
Synovial sarcoma is characterized by variable epithelial differentiation and specific SS18-
SSX gene fusions. The diagnosis is primarily based on phenotype, but fusion gene detection …

Rhabdoid and undifferentiated phenotype in renal cell carcinoma: analysis of 32 cases indicating a distinctive common pathway of dedifferentiation frequently …

A Agaimy, L Cheng, L Egevad… - The American Journal …, 2017 - journals.lww.com
Undifferentiated (anaplastic) and rhabdoid cell features are increasingly recognized as
adverse prognostic findings in renal cell carcinoma (RCC), but their molecular pathogenesis …

Preclinical evidence of anti-tumor activity induced by EZH2 inhibition in human models of synovial sarcoma

S Kawano, AR Grassian, M Tsuda, SK Knutson… - PloS one, 2016 - journals.plos.org
The catalytic activities of covalent and ATP-dependent chromatin remodeling are central to
regulating the conformational state of chromatin and the resultant transcriptional output. The …

Histology and grading are important prognostic factors in synovial sarcoma

G Bianchi, A Sambri, A Righi, AP Dei Tos… - European Journal of …, 2017 - Elsevier
Introduction The diagnosis of synovial sarcoma (SS) is currently based on clinical,
morphological, immunohistochemical and cytogenetic data. Some of these factors such as …

SWI/SNF complex-deficient soft tissue neoplasms: a pattern-based approach to diagnosis and differential diagnosis

A Agaimy - Surgical Pathology Clinics, 2019 - surgpath.theclinics.com
Loss of different components of the Switch/sucrose nonfermentable (SWI/SNF) chromatin
remodeling complex has been increasingly recognized as a central molecular event driving …