Cellular myofibromas with SRF fusions: clinicopathological and molecular study of 3 cases of a rare entity and a potential mimic of sarcoma

Papa, Brigitte; Nguyen, Minh Anh; Kumar, Amit; Song, Liying; Dorwal, Pranav; Cheah, Alison L.

doi:10.1016/j.humpath.2023.05.012

Cited by 4 publications

(2 citation statements)

References 21 publications

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“…Cellular fibromas, also known as atypical fibromas, are benign with no metastasis and limited growth[ 3 , 4 ]. Surgical removal typically results in a good prognosis, with a local recurrence rate of approximately 5%.…”

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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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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“…16 However, careful monitor- ing of our patient is ongoing as most relapses for undifferentiated sarcoma occur within 3 years of diagnosis, although, recurrence rates for SRF-fused sarcomas are not well described. 1,5,17 In addition to imaging surveillance, liquid biopsy may also be a future possibility for response monitoring of patients with unique fusions. 18 We report an undifferentiated soft tissue sarcoma with a unique SRF-MKL2 fusion.…”

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confidence: 99%

An SRF‐rearranged malignant cellular myoid neoplasm with a novel SRF–MKL2 fusion

Crowell,

Schollenberg,

Tran

et al. 2023

Pediatric Blood & Cancer

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Diagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-generation Sequencing

Ghabrial,

Stinnett,

Ribeiro

et al. 2024

Modern Pathology

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Cellular myofibromas with SRF fusions: clinicopathological and molecular study of 3 cases of a rare entity and a potential mimic of sarcoma

Cited by 4 publications

References 21 publications

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

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

An SRF‐rearranged malignant cellular myoid neoplasm with a novel SRF–MKL2 fusion

Diagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-generation Sequencing

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