A case of pericytic neoplasm in the shoulder with a novel <i>DERA–GLI1</i> gene fusion

Nitta, Yuji; Takeda, Maiko; Fujii, Tomomi; Itami, Hiroe; Tsukamoto, Shinji; Honoki, Kanya; Ohbayashi, Chiho

doi:10.1111/his.14280

Cited by 18 publications

(19 citation statements)

References 5 publications

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“…1 Recently, GLI1 gene alterations fused with MALAT1, PTCH1, APOD, DERA, or amplification have been reported in soft tissue tumors. [2][3][4][5][6] These tumors share some morphological features and typically express S100. They have a propensity for malignant behavior with regional or distant metastasis.…”

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confidence: 99%

GLI1‐rearranged mesenchymal tumor in the ovary

Bai

Yang

et al. 2022

Histopathology

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confidence: 99%

GLI1‐rearranged mesenchymal tumor in the ovary

Bai

Yang

et al. 2022

Histopathology

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“…A variety of fusions and amplifications have been identified in soft tissue sarcomas with GLI1 alterations. Partner genes include ACTB1 , MALAT1 , FOXOP3 , PTCH1, APOD, DERA, NCOR2 , and SYT1 1,5,8–12 . Despite molecular heterogeneity, the morphology of these tumors is relatively consistent: monomorphic ovoid to spindled cells with scant to moderate amounts of amphophilic to eosinophilic cytoplasm 3 .…”

Section: Discussionmentioning

confidence: 99%

“…Partner genes include ACTB1, MALAT1, FOXOP3, PTCH1, APOD, DERA, NCOR2, and SYT1. 1,5,[8][9][10][11][12] Despite molecular heterogeneity, the morphology of these tumors is relatively consistent: monomorphic ovoid to spindled cells with scant to moderate amounts of amphophilic to eosinophilic cytoplasm. 3 Tumor cells are often arranged in organoid structures including nests, cords and trabeculae, with an associated rich, delicate, arborizing vascular network.…”

Section: Discussionmentioning

confidence: 99%

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Shahabi

Israel

Sullivan

et al. 2022

Diagnostic Cytopathology

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Mesenchymal tumors harboring GLI1 gene fusions are a rare new entity that typically occur in the head and neck region of young to middle aged adults, with a particular predilection for the tongue. We report herein a case of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion of the right submental region in an 82‐year‐old male never smoker. Ultrasound‐guided fine needle aspiration (FNA) with concomitant core needle biopsy was performed. Cytology smears revealed a hypercellular, monotonous aspirate comprised of epithelioid to plasmacytoid cells with round regular nuclei and moderate amounts of cytoplasm. There were admixed granulomata. The patient underwent surgical resection with limited neck dissection and subsequent pathologic examination with performed next generation sequencing confirmed the presence of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion. To our knowledge, this is the first reported example of a mesenchymal tumor harboring GLI1 gene fusion initially evaluated by FNA.

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“…Fusion genes were detected in nine of 37 unclassifiable tumors, one of the fusion genes was a rare new fusion gene. 25 In addition, two types of fusion genes have been identified in endometrial sarcomas. These are important fusion genes because they are associated with the histological grade of endometrial sarcoma.…”

Section: Discussionmentioning

confidence: 99%

“…In the current study, endometrial stromal sarcoma was the most efficient tumor for which fusion genes were detected in NGS analysis using the Archer FusionPlex Sarcoma Panel, with four out of nine cases. Fusion genes were detected in nine of 37 unclassifiable tumors, one of the fusion genes was a rare new fusion gene 25 . In addition, two types of fusion genes have been identified in endometrial sarcomas.…”

Section: Discussionmentioning

confidence: 99%

Identification of fusion transcripts in sarcoma from archival formalin‐fixed paraffin‐embedded tissues: A next‐generation sequencing approach

Fujii

Takeda

Uchiyama

et al. 2022

Pathology International

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Most sarcomas are highly aggressive, and cause necrosis and hemorrhage. The diagnosis of sarcoma is challenging because of the lack of specificity of immunohistochemical staining; however, molecular biological approaches, such as genetic mutation, chromosomal translocation, and gene amplification, are promising. In this study, we extracted RNA from formalin‐fixed paraffin‐embedded (FFPE) tissue derived from surgically resected specimens of sarcoma stored for various periods and performed next‐generation sequencing (NGS) analysis by MiniSeq using the Archer Fusion‐Plex Sarcoma Panel. RNA was extracted from 63 FFPE tissue samples, and the degree of RNA degradation was assessed. The number of reads and fragment lengths were evaluated by NGS analysis. RNA extraction and cDNA synthesis were successful in 56 cases and library preparation was possible. Fusion genes were detected in 16 of 63 archived FFPE tissue samples in this study. However, in 18 cases, fragmentation was strong, and high‐quality libraries could not be obtained. Nevertheless, comprehensive analysis of fusion genes with high sequence specificity by NGS can be a powerful alternative to reverse transcription‐polymerase chain reaction and fluorescence in situ hybridization methods.

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A case of pericytic neoplasm in the shoulder with a novel DERA–GLI1 gene fusion

Cited by 18 publications

References 5 publications

GLI1‐rearranged mesenchymal tumor in the ovary

GLI1‐rearranged mesenchymal tumor in the ovary

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Identification of fusion transcripts in sarcoma from archival formalin‐fixed paraffin‐embedded tissues: A next‐generation sequencing approach

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