Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner

Nihous, Hugo; Macagno, Nicolas; Baud-Massière, Jessica; Haffner, Aurélie; Jouve, Jean-Luc; Gentet, Jean‐Claude; Touzery, C; Loarer, François Le; Bouvier, Corinne

doi:10.1007/s00428-020-02859-9

Cited by 7 publications

(4 citation statements)

References 15 publications

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“…Overall, SRF -fusion transcripts described in the literature mostly retain the MAD domain of SRF necessary for the target genes binding, and the C-terminal transcription activating domains of partner genes. This is the case with SRF::RELA [ 4 , 5 ], SRF::ICA1L [ 7 , 9 ], SRF::NCOA2 [ 5 ] and SRF::STAT6 [ 25 ] neoplasms, which present similar SRF breakpoints. Therefore, in these SRF -fused tumors, aberrant transcription factors are produced, and consequently, pathways involving SRF are enriched [ 5 ].…”

Section: Discussionmentioning

confidence: 75%

“…These SRF -fused tumors displayed an incomplete smooth muscle cell differentiation with a diffuse expression of SMA, calponin, and smooth-muscle-heavy myosin isoform, but no expression of desmin or caldesmon. Lastly, SRF::STAT6 fusion ( Figure 7 a) was reported in a case of deep soft-tissue tumor of the arm in a 15-year-old boy, expressing a full smooth-muscle phenotype [ 25 ] and overlapping features with the SRF::RELA myofibromas [ 4 ]. Mitotic activity was low, and the tumor showed diffuse expression of α-SMA, desmin, caldesmon, and calponin, without expression of myogenin, MyoD1, CD34, EMA or PS100.…”

Section: Discussionmentioning

confidence: 99%

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SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation

et al. 2022

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The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that SRF may play a role in carcinogenesis and tumor progression in various neoplasms, where it is often involved in different fusion events. Here we investigated SRF rearrangements in soft tissue tumors, along with a gene expression profile analysis to gain insight into the oncogenic mechanism driven by SRF fusion. Whole transcriptome analysis of cell lines transiently overexpressing the SRF::E2F1 chimeric transcript uncovered the specific gene expression profile driven by the aberrant gene fusion, including overexpression of SRF-dependent target genes and of signatures related to myogenic commitment, inflammation and immune activation. This result was confirmed by the analysis of two cases of myoepitheliomas harboring SRF::E2F1 fusion with respect to EWSR1-fusion positive tumors. The recognition of the specific gene signature driven by SRF rearrangement in soft tissue tumors could aid the molecular classification of this rare tumor entity and support therapeutic decisions.

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 99%

SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation

et al. 2022

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“…Myofibromas have demonstrated recurrent gain-of-function mutations in PDGFRB , predominantly in children and more frequently in multicentric disease. 101 SRF-RELA fusions also have been reported in cellular myofibromas/myopericytomas and a rare report of a SRF-STAT6; 102,103 thus, molecular testing may aide in distinguishing this tumor from other spindle cell neoplasms.…”

Section: Intraosseous Mesenchymal Neoplasmsmentioning

confidence: 84%

Pediatric Gnathic Bony and Mesenchymal Tumors

Liu

Smith²,

Patel

et al. 2023

Pediatr Dev Pathol

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Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.

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“…Previous case reports have highlighted the misdiagnosis of CMF as leiomyomas, low-grade malignant fibrous histiocytomas, fibrosarcomas, and rhabdomyosarcomas. However, subsequent confirmation through NGS revealed the presence of the SRF-RELA gene fusion[ 6 , 7 ]. Positive outcomes were observed during the follow-up.…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of synovial sarcoma - cellular myofibroma with SRF-RELA gene fusion: A case report

Zhou,

Sun,

Liu

et al. 2024

World J Clin Cases

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BACKGROUND Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017. Its diagnosis is often challenging because of its relative rarity, lack of known genetic abnormalities, and expression of muscle markers that can be confused with sarcomas that have myogenic differentiation. Currently, scholars have limited knowledge of this disease, and published cases are few. Further accumulation of diagnostic and treatment experiences is required. CASE SUMMARY A 16-year-old girl experienced left upper limb swelling for 3 years. She sought medical attention at a local hospital 10 months ago, where magnetic resonance imaging revealed a 5-cm soft tissue mass. Needle biopsy performed at a local hospital resulted in the diagnosis of a spindle cell soft tissue sarcoma. The patient was referred to our hospital for limb salvage surgery with endoprosthetic replacement. She was initially diagnosed with a synovial sarcoma. Consequently, clinical management with chemotherapy was continued for the malignant sarcoma. Our pathology department also performed fluorescence in situ hybridization for result validation, which returned negative for SS18 gene breaks, indicating that it was not a synovial sarcoma. Next-generation sequencing was used to identify the SRF-RELA rearrangement. The final pathological diagnosis was a cellular/myofibroblastic neoplasm with an SRF-RELA gene fusion. The patient had initially received two courses of chemotherapy; however, chemotherapy was discontinued after the final diagnosis. CONCLUSION This case was misdiagnosed because of its rare occurrence, benign biological behavior, and pathological similarity to soft tissue sarcoma.

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Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner

Cited by 7 publications

References 15 publications

SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation

SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation

Pediatric Gnathic Bony and Mesenchymal Tumors

Misdiagnosis of synovial sarcoma - cellular myofibroma with SRF-RELA gene fusion: A case report

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