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

Corinne Bouvier 1 François Le Loarer 2 Nicolas Macagno 1 Sébastien Aubert 3 Virginie Audard 4 Damien Geneste 2 Anne Gomez-Brouchet 5 Jean-Marc Guinebretière 6 Frédérique Larousserie 4 Daniel Pissaloux 7 Béatrice Marie 1 8 Franck Tirode 7 Jessica Baud 2 Gonzague De Pinieux 9
1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Institut Bergonié [Bordeaux]
3 CHU Lille
4 Hôpital Cochin [AP-HP]
5 IUCT Oncopole - UMR 1037 - Institut Universitaire du Cancer de Toulouse - Oncopole
6 Hôpital René HUGUENIN (Saint-Cloud)
7 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
8 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
9 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
Abstract : Acral soft tissue tumors are common neoplasms, a subset of which pose a diagnostic challenge. We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and displayed an abundant stroma made of variable fibrous, chondroid and myxoid material reminiscent of cartilaginous or myoepithelial differentiation. Tumor cells harbored small round to reniform nuclei with clear chromatin and inconspicuous nucleoli along with scant eosinophilic cytoplasm. The cells were mostly arranged haphazardly in the stroma but also in small clusters. No mitotic activity was detected. No specific feature was identified in recurrent cases. By immunohistochemistry, the cells consistently stained for CD34 (10/10), ERG (9/10), and SOX9 (7/10). Whole RNA sequencing identified a previously undescribed recurrent in frame THBS1-ADGRF5 gene fusion in all cases. The transcript was confirmed by RT-PCR and was not found in the control group of mimickers including soft tissue chondromas. We propose the name of Acral FibroChondroMyxoid Tumors for this new entity.
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Submitted on : Tuesday, March 2, 2021 - 4:30:27 PM
Last modification on : Tuesday, April 12, 2022 - 9:30:02 AM

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Corinne Bouvier, François Le Loarer, Nicolas Macagno, Sébastien Aubert, Virginie Audard, et al.. Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors”. Modern Pathology, Nature Publishing Group: Open Access Hybrid Model Option B, 2020, 33 (7), pp.1360-1368. ⟨10.1038/s41379-020-0493-4⟩. ⟨hal-03156743⟩

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