Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations

Anderson, William J.; Jo, Vickie Y.

doi:10.3390/diagnostics11040690

Cited by 16 publications

(15 citation statements)

References 104 publications

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“…Several studies demonstrated that the loss of SMARCA4 was associated with a high risk of undifferentiated cancer, implying its anti-cancerous role[ 23 - 26 ]. Other studies detected the overexpression of SMARCA4 in various other types of cancer, including HCC[ 18 , 27 - 29 ], small cell lung cancer[ 10 , 11 , 30 - 32 ], acute leukemia[ 3 , 33 - 36 ] and neuroblastoma[ 37 , 38 ], thereby exemplifying its oncogenic role. In this study, we identified the overexpression of SMARCA4 Levels in 15 different types of cancer, excluding glioblastoma, kidney chromophobe, and kidney papillary cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

Delineation of a SMARCA4-specific competing endogenous RNA network and its function in hepatocellular carcinoma

Zhang¹,

Sun²,

Wu³

et al. 2022

World J Clin Cases

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BACKGROUND Hepatocellular carcinoma (HCC) is a common malignancy worldwide, and the mortality rate continues to rise each year. SMARCA4 expression has been associated with poor prognosis in various types of cancer; however, the specific mechanism of action of SMARCA4 in HCC needs to be fully elucidated. AIM To explore the specific mechanism of action of SMARCA4 in HCC. METHODS Herein, the expression level of SMARCA4 as well as its association with HCC prognosis were evaluated using transcriptome profiling and clinical data of 18 different types of cancer collected from The Cancer Genome Atlas database. Furthermore, SMARCA4-high and -low groups were identified. Thereafter, gene ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses were performed to identify the function of SMARCA4, followed by construction of a SMARCA4-specific competing endogenous RNA (ceRNA) network using starBase database. The role of SMARCA4 in immunotherapy and its association with immune cells were assessed using correlation analysis. RESULTS It was observed that SMARCA4 was overexpressed and negatively correlated with prognosis in HCC. Further, SMARCA4 expression was positively associated with tumor mutational burden, microsatellite stability, and immunotherapy efficacy. The SNHG3/THUMP3-AS1-miR-139-5p-SMARCA4 ceRNA network was established and could be assumed to serve as a stimulatory mechanism in HCC. CONCLUSION The findings of this study demonstrated that SMARCA4 plays a significant role in progression and immune infiltration in HCC. Moreover, a ceRNA network was detected, which was found to be correlated with poor prognosis in HCC. The findings of this study could contribute towards the identification of predictive markers for immunotherapy and a novel mechanism of action for HCC treatment.

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Section: Discussionmentioning

confidence: 99%

Delineation of a SMARCA4-specific competing endogenous RNA network and its function in hepatocellular carcinoma

Zhang¹,

Sun²,

Wu³

et al. 2022

World J Clin Cases

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“…BSTS are heterogeneous tumors of mesenchymal origin with more than 100 histological subtypes [ 65 ], and each BSTS histotype presents a specific nucleic acid or protein profile, which allows molecular diagnosis of sarcoma [ 66 , 67 ].…”

Section: Clinical Utility Of Exosomes Detection In Liquid Biopsymentioning

confidence: 99%

Exosome-Based Liquid Biopsy Approaches in Bone and Soft Tissue Sarcomas: Review of the Literature, Prospectives, and Hopes for Clinical Application

Agnoletto

Pignochino

Caruso

et al. 2023

IJMS

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The knowledge of exosome impact on sarcoma development and progression has been implemented in preclinical studies thanks to technological advances in exosome isolation. Moreover, the clinical relevance of liquid biopsy is well established in early diagnosis, prognosis prediction, tumor burden assessment, therapeutic responsiveness, and recurrence monitoring of tumors. In this review, we aimed to comprehensively summarize the existing literature pointing out the clinical relevance of detecting exosomes in liquid biopsy from sarcoma patients. Presently, the clinical utility of liquid biopsy based on exosomes in patients affected by sarcoma is under debate. The present manuscript collects evidence on the clinical impact of exosome detection in circulation of sarcoma patients. The majority of these data are not conclusive and the relevance of liquid biopsy-based approaches in some types of sarcoma is still insufficient. Nevertheless, the utility of circulating exosomes in precision medicine clearly emerged and further validation in larger and homogeneous cohorts of sarcoma patients is clearly needed, requiring collaborative projects between clinicians and translational researchers for these rare cancers.

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“…8 Histologically, SS has a heterogeneous appearance and three histological variants have been described: monophasic, biphasic, and poorly differentiated. [9][10][11] Until a few years ago, a specific immunohistochemical (IHC) panel was not available and the diagnosis of SS relied on the detection of the t(X;18)(p11;q11) by molecular genetic or cytogenetic tests. 12 Both fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR) analyses have been largely validated in the t(X;18)(p11;q11) detection, although cytogenetic evaluation is most widely used.…”

Section: Introductionmentioning

confidence: 99%

SS18-SSX Antibody: A Useful Tool to Save Time and Reduce Costs in Synovial Sarcoma Diagnosis. Proposal of a Novel Diagnostic Algorithm

Orlando

Santoro

Linari

et al. 2023

J Histochem Cytochem.

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Synovial sarcoma is a rare malignant mesenchymal neoplasm mostly affecting young adults, characterized by a specific translocation which results in the fusion of the SS18 gene on chromosome 18 with one of the three highly homologous SSX genes on chromosome X. Its morphological diagnosis, especially in monophasic or poorly differentiated variants, can be challenging because histological features often overlap with other malignant mesenchymal tumors. Until recently, the differential diagnosis mostly relied on the use of cytogenetic or molecular analyses to detect the specific t(X;18)(p11;q11) translocation, thus virtually restricting its correct identification to referral centers with a high histological and molecular pathology workflow. The recently commercialized highly sensitive and fusion-specific SS18-SSX antibody has significantly improved the approach to these tumors, representing a relatively cheap and easy to access tool for synovial sarcoma diagnosis. Through a retrospective analysis of 79 synovial sarcomas and histological mimickers, this study confirms the usefulness of the SS18-SSX antibody in the diagnosis of synovial sarcoma, particularly focusing on its application in the pathological response evaluation after neoadjuvant treatment as well as its time- and cost-saving advantages. Finally, we here propose a new diagnostic algorithm to apply into the routine practice.

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Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations

Cited by 16 publications

References 104 publications

Delineation of a SMARCA4-specific competing endogenous RNA network and its function in hepatocellular carcinoma

Delineation of a SMARCA4-specific competing endogenous RNA network and its function in hepatocellular carcinoma

Exosome-Based Liquid Biopsy Approaches in Bone and Soft Tissue Sarcomas: Review of the Literature, Prospectives, and Hopes for Clinical Application

SS18-SSX Antibody: A Useful Tool to Save Time and Reduce Costs in Synovial Sarcoma Diagnosis. Proposal of a Novel Diagnostic Algorithm

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