SRF-FOXO1 and SRF-NCOA1 Fusion Genes Delineate a Distinctive Subset of Well-differentiated Rhabdomyosarcoma
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
Authors: Karanian, Marie; Pissaloux, Daniel; Gomez-Brouchet, Anne; Chevenet, Carole; Le Loarer, Francois; Fernandez, Carla; Minard, Veronique; Corradini, Nadege; Castex, Marie-Pierre; Duc-Gallet, Adeline; Blay, Jean-Yves; Tirode, Franck
Abstract
Rhabdomyosarcoma (RMS) encompasses a heterogenous collection of tumors in which new groups have recently been identified that improved the World Health Organization (WHO) classification. While performing RNA-sequencing in our routine practice, we identified 3 cases of well-differentiated RMS harboring new fusion genes. We also analyzed these tumors through array-comparative genomic hybridization. Clinically, these tumors were deep paraspinal tumors, occurring in neo-nat and young children. The patients underwent resection and adjuvant therapy. At the time of last follow-up (ranging from 12 to 108 mo), they were alive without disease. Histologically, these tumors consisted of well-differentiated rhabdomyoblastic proliferations with nuclear atypia, infiltrative borders, and a specific growth pattern. These tumors harbored new fusion genes involving SRF and either FOXO1 or NCOA1. We compared the expression profiles of these 3 tumors to the expression data of a series of 33 skeletal muscle tumors including embryonal RMSs, alveolar rhandomyosarcomas, RMSs with VGLL2 fusions, RMSs with the myoD1 mutation, EWSR1/FUS-TFCP2 epithelioid and spindle cell RMSs of the bone, and rhabdomyomas with PTCH1 loss. According to clustering analyses, the 3 SRF-fused tumors formed a distinct group with a specific expression profile different from that of the other types of skeletal muscle tumors. Array-comparative genomic hybridization showed a recurrent gain of chromosome 11. These 3 tumors define a new group of RMS associated with a fusion of the SRF gene. FOXO1 rearrangements, usually used to confirm the diagnosis of alveolar RMS and identify poor-outcome RMSs, were identified in a nonalveolar RMS for the first time.
Efficacy of the subthreshold micropulse yellow wavelength laser photostimulation in the treatment of chronic central serous chorioretinopathy
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY
Authors: Isik, Mehmed Ugur; Degirmenci, Mehmet Fatih Kagan; Saglik, Ayhan
Abstract
AIM: To evaluate the efficacy and safety of subthreshold micropulse yellow laser (SMYL) in the treatment of chronic central serous chorioretinopathy (CCSC). METHODS: The medical records of 58 eyes of 58 patients with CCSC were reviewed. A 577-nm SMYL system was used for the treatment. Fundus fluorescein angiography was used as the primary method of identifying CCSC, and resolution of subretinal fluid (SRF) evaluated by optical coherence tomography (OCT) and fundus autofluorescence. Central macular thickness (CMT), central macular volume (CMV), total macular volume (TMV), subfoveal choroidal thickness (SFCT), subretinal fluid height (SRFH), and subfoveal fluid basement diameter values were measured by spectral domain-OCT (SD-OCT) for all eyes. RESULTS: The mean age of the patients was 42.4 +/- 9.9 (range: 20-72)y. The mean follow-up was 11.4 +/- 8.5 (range: 6-37)mo. Median BCVA at at the final follow up after treatment was statistically significant from the baseline. Complete SRF resolution was 12.1% of the eyes in the 1st month, 67.2% of the eyes in the 3rd month and 67.2% of the eyes in the last follow up. The initial median CMT, CMV, TMV, and SFCT values before treatment was significantly higher than 3rd month visit values (P<0.001). In the multivariate analysis performed, age and disease duration were found to be a risk factor for persistent SRF (P=0.017, P=0.016, respectively). CONCLUSION: SMYL treatment provides a significant anatomical and functional improvement and is effective in eliminating SRF in eyes with CCSC.