Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors”

Bouvier, Corinne; Loarer, François Le; Macagno, Nicolas; Aubert, Sébastien; Audard, Vincent; Geneste, Damien; Gomez‐Brouchet, Anne; Guinebretière, Jean‐Marc; Larousserie, Frédérique; Pissaloux, Daniel; Marie, Béatrice; Tirode, Franck; Baud, Jessica; Pinieux, Gonzague de

doi:10.1038/s41379-020-0493-4

Cited by 18 publications

(34 citation statements)

References 31 publications

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“…described "acral fibrochondromyxoid tumor" by Bouvier et al 26 In this study, the authors presented a series of tumors with lobulated growth and abundant chondromyxoid matrix, which were located exclusively in the hands and feet. In contrast to our case and those tumors described by Liu et al, calcifications were rarely identified and osteoclast-like giant cells were not present in these neoplasms.…”

Section: Author Contributionsmentioning

confidence: 97%

A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

Georgantzoglou

Shen

Jour

et al. 2022

Genes Chromosomes & Cancer

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Calcified chondroid neoplasms with FN1::FGFR1 or FGFR2 fusions constitute a recently described category of mesenchymal neoplasms mostly encountered in the extremities and temporomandibular joint. Herein, we report a case of FNI1-fused calcified chondroid neoplasm of the hand with a novel FGFR3 fusion partner. The tumor exhibited a multilobulated growth pattern composed of epithelioid cells embedded in abundant stroma with myxoid, chondroid, and fibrous areas and scattered osteoclastlike giant cells. RNA sequencing revealed an in-frame fusion between Exon 31 of FN1 and Exon 3 of FGFR3, which was subsequently confirmed by reverse transcription-polymerase chain reaction. Our findings expand on the spectrum of potential fusion partners in FN1-fused calcified chondroid neoplasms.

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Section: Author Contributionsmentioning

confidence: 97%

A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

Georgantzoglou

Shen

Jour

et al. 2022

Genes Chromosomes & Cancer

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“…All VGLL3 fusion transcripts were confirmed by reverse transcription polymerase chain reaction (RT-PCR) with an aliquot of the formalin-fixed, paraffin-embedded RNA. Details of this technique was previously reported 15…”

Section: Methodsmentioning

confidence: 99%

Clinicopathologic and Molecular Study of Hybrid Nerve Sheath Tumors Reveals Their Common Association With Fusions Involving VGLL3

Nihous

Baud

Azmani

et al. 2022

American Journal of Surgical Pathology

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A subset of benign peripheral nerve sheath tumors are "hybrid" combining several lines of differentiation, most often schwannian and perineurial features. The pathogenesis of these tumors was poorly described until the recent discovery of recurrent VGLL3 rearrangements in hybrid schwannoma/perineuriomas, supporting the hypothesis that this entity represents a distinct subgroup of tumors and not only a morphologic variation of other peripheral nerve sheath tumors. Following this finding, we investigated 10 cases of hybrid peripheral nerve sheath tumors with immunohistochemistry, RNA sequencing, and array comparative genomic hybridization. By light microscopy, 7 tumors were hybrid schwannoma/perineurioma tumors, and 3 were hybrid schwannoma/neurofibroma. Most cases of hybrid schwannoma/perineuriomas displayed VGLL3 rearrangements fused in 5′ either to CHD7 or CHD9 (n = 6/7) and had simple diploid genetic profiles with few copy number alterations. Compared with a control group composed of 28 tumors associated with varied neural phenotypes, all VGLL3-fused tumors clustered together by transcriptomic analysis. In contrast, 1 case of hybrid schwannoma/perineurioma tumor harbored a CDH9-ZFHX3 fusion, a prominent perineurial component identified by immunohistochemistry and clustered with perineuriomas. No recurrent genetic alteration was seen in the 3 hybrid schwannoma/neurofibromas. To summarize, this study confirms and expands the recent findings on hybrid schwannoma/ perineurioma, highlighting the predominance of VGLL3 fusions in these tumors.

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“…This integrative management of transcriptomic data allowed the first description and refinement of several neoplastic entities in the field of mesenchymal, melanocytic, mesothelial, and rare tumors, using almost exclusively archived FFPE material: alternative rearrangement of PDGFD in dermatofibrosarcoma protuberans , 28 endometrial stromal sarcoma in general, 6 sarcoma with CIC::NUTM1 rearrangement, 29 perivascular myoid neoplasm with SRF fusion , 30 well‐differentiated rhabdomyosarcomas with SRF fusion, 31 heterogeneity of rhabdomyosarcomas, 32 undifferentiated round cell sarcoma with CRTC1::SS18 fusion, 5 superficial pleomorphic tumors with PRDM10 fusion, 33 giant cell tumor with NCOR2 fusion, 34 acral fibrochondromyxoid tumor with THBS1 fusion, 35 unclassified sclerosing malignant melanomas with AKAP9::BRAF gene fusion, 36 cutaneous melanocytoma with CRTC::TRIM11 fusion, 37,38 melanocytic myxoid spindle cell tumor with ALK rearrangement (MMySTAR), 39 melanocytoma with concomitant mutation of IDH1 and NRAS , 40 CYSLTR2 ‐mutant cutaneous melanocytic neoplasms, 41 agminated melanocytic Spitz nevi arising in a giant congenital hyperpigmented macule with three‐way complex rearrangement of TRPM1::PUM1::LCK , 42 agminated Spitz nevi with GOPC::ROS1 mosaicism, 43 primary melanoma of the lung with FNBP1::BRAF fusion, 44 melanocytic tumors with either RASGRF1 45 or RASGRF2 fusion, 46 melanocytic Spitz neoplasms with MAP3K8 fusion, 47 melanocytic spitz tumors in general, 43,48–50 clear cell tumor with melanocytic differentiation and MITF::CREM 51 and ACTIN::MITF fusion, 52 and solid papillary mesothelial tumor 53 …”

Section: Overview Of the Workflowmentioning

confidence: 99%

Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis

Macagno

Pissaloux

Fouchardière

et al. 2022

Genes Chromosomes & Cancer

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Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal neoplasms are particularly challenging due to the combination of their rarity and the large number of subtypes, and many entities still lack robust diagnostic hallmarks. RNA transcriptomic profiles have proven to be a reliable basis for the classification of previously unclassified tumors and notably for mesenchymal neoplasms. Using exome-based RNA capture sequencing on more than 5000 samples of archival material (formalin-fixed, paraffin-embedded), the combination of expression profiles analyzes (including several clustering methods), fusion genes, and small nucleotide variations has been developed at the Centre Léon Bérard (CLB) in Lyon for the molecular diagnosis of challenging neoplasms and the discovery of new entities. The molecular basis of the technique, the protocol, and the bioinformatics algorithms used are described herein, as well as its advantages and limitations.

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Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors”

Cited by 18 publications

References 31 publications

A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

Clinicopathologic and Molecular Study of Hybrid Nerve Sheath Tumors Reveals Their Common Association With Fusions Involving VGLL3

Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis

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