التفاصيل البيبلوغرافية
| العنوان: |
SRF Fusions Other Than With RELA Expand the Molecular Definition of SRF-fused Perivascular Tumors |
| 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: |
American Journal of Surgical Pathology ; volume 44, issue 12, page 1725-1735 ; ISSN 0147-5185 |
| بيانات النشر: |
Ovid Technologies (Wolters Kluwer Health) |
| سنة النشر: |
2020 |
| الوصف: |
Pericytic tumors encompass several entities sharing morphologic and immunohistochemical features. A subset of perivascular myoid tumors associated with the SRF-RELA fusion 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-RELA fusion gene, in addition to other genetic alterations, all involving SRF fused to CITED1 , CITED2 , NFKBIE , or NCOA2 . The detection of SRF-NCOA2 fusions 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. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1097/pas.0000000000001546 |
| DOI: |
10.1097/PAS.0000000000001546 |
| الإتاحة: |
https://doi.org/10.1097/pas.0000000000001546Test |
| رقم الانضمام: |
edsbas.EF201D0E |
| قاعدة البيانات: |
BASE |
