دورية
SRFFusions Other Than With RELAExpand the Molecular Definition of SRF-fused Perivascular Tumors
| العنوان: | SRFFusions Other Than With RELAExpand the Molecular Definition of SRF-fused Perivascular Tumors |
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| المؤلفون: | Karanian, Marie, Kelsey, Anna, Paindavoine, Sandrine, Duc, Adeline, Vanacker, Helene, Hook, Liz, Weinbreck, Nicolas, Delfour, Christophe, Minard, Veronique, Baillard, Pauline, Blay, Jean-Yves, Pissaloux, Daniel, Tirode, Franck |
| المصدر: | The American Journal of Surgical Pathology; December 2020, Vol. 44 Issue: 12 p1725-1735, 11p |
| مستخلص: | Supplemental Digital Content is available in the text.Pericytic tumors encompass several entities sharing morphologic and immunohistochemical features. A subset of perivascular myoid tumors associated with the SRF-RELAfusion gene was previously described. Herein, we report a series of 13 tumors belonging to this group, in which we have identified new fusion genes by RNA-sequencing, thus expanding the molecular spectrum of this entity. All patients except 1 were children and infants. The tumors, frequently located in the head (n=8), had a mean size of 38 mm (range 10 to 150 mm) and were mostly (n=9) well-circumscribed. Exploration of the follow-up data (ranging from 3 to 68 mo) confirmed the benign behavior of these tumors. These neoplasms presented a spectrum of morphologies, ranging from perivascular patterns to myoid appearance. Tumor cells presented mitotic figures but without marked atypia. Some of these tumors could mimic sarcoma. The immunohistochemical profiles confirmed a pericytic differentiation with the expression of the smooth muscle actin and the h-caldesmon, as well as the frequent positivity for pan-cytokeratin. The molecular analysis identified the expected SRF-RELAfusion gene, in addition to other genetic alterations, all involving SRFfused to CITED1, CITED2, NFKBIE, or NCOA2. The detection of SRF-NCOA2fusions in spindle cell rhabdomyosarcoma of the infant has previously been described, representing a risk of misdiagnosis, although the cases reported herein did not express MyoD1. Finally, clustering analyses confirmed that this group of SRF-fused perivascular myoid tumors forms a distinct entity, different from other perivascular tumors, spindle cell rhabdomyosarcomas of the infant, and smooth muscle tumors. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 01475185 15320979 |
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| DOI: | 10.1097/PAS.0000000000001546 |