Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas / 中华病理学杂志

Objective@#To investigate the status and prognostic significance of TERT and IDH1/2 genes mutations in diffusely infiltrating gliomas.@*Methods@#Hot spot mutations of TERT and IDH1/2 genes were detected by DNA sequencing in 236 cases of gliomas at West China Hospital from 2012 to 2016, including pilocytic astrocytoma (WHO grade Ⅰ, 16 cases), diffuse astrocytoma and oligodendroglioma (WHO grade Ⅱ, 89 cases), anaplastic astrocytoma and oligodendroglioma (WHO grade Ⅲ, 72 cases) and glioblastoma (WHO grade Ⅳ, 59 cases). The prognostic significance of TERT and IDH1/2 hot spot mutations was evaluated.@*Results@#No IDH or TERT mutations were detected in pilocytic gliomas. TERT promoter mutation frequency was higher in patients aged ≥40 years(60.8%, 93/153) than in patients aged <40 years (32.8%, 22/67; P<0.01). TERT promoter mutation rate was also significantly higher in oligodendroglioma (87.5% , 56/64) than that in astrocytoma(37.8%, 59/156; P<0.01). Young age (<40 years), oligodendroglioma and IDH1 mutation were favorable prognostic factors for diffusely infiltrating astrocytic and oligodendroglial tumors. TERT mutation alone was not of prognostic significance. Diffusely infiltrating astrocytic and oligodendroglial tumors were divided into four molecular subtypes according to TERT and IDH1 mutation status: IDH(+ )/TERT(+ ), IDH(+ )/TERT(-), IDH(-)/TERT(-) and IDH(-)/TERT(+ ). There was significant prognostic difference among the 4 subtypes.@*Conclusions@#Combined IDH and TERT gene mutation analysis may be useful for prognostic subgrouping. Notably, IDH1 wild-type cases can be further subdivided into TERT(+ ) or (-) subgroups with significant prognostic difference.

Congenital mesoblastic nephroma: clinicopathological features and molecular genetic analyses / 临床与实验病理学杂志

To discuss clinicopathological features and molecular genetic change of congenital mesoblastic nephroma (CMN).Methods Nine cases diagnosed as CMN were analyzed retrospectively in this study.Histological features,immunohistochemical profiles and ETV6 gene rearrangement status were assessed.Results All patients were within two years of age and eight of them were within one year.The average diameter of tumors was 9.5 cm (3.2-15.0 cm).These series cases included 3 classic CMN,5 cellular CMN and 1 mixed CMN.Cystic degeneration was found in 5 cases,and cartilage islands were observed in 2 cases.Compared with classic CMN,tumor size was bigger,and hemorrhage,necrosis and mitotic figures were easily to see in cellular CMN.All the tumor cells were positive for vimentin and negative for WT-1 by immunohistochemistry.ETV6 gene rearrangement was detected in 5 cases (including 4 cellular CMN and 1 classic CMN).Three cellular CMN harbored ETV6 gene translocation,1 mixed CMN and 1 cellular CMN were negative for ETV6 gene translocation by FISH analysis.The follow up data were obtained in 7 cases and 2 cases were lost.All the 7 patients were alive without evidence of recurrence and metastasis from 5 to 46 months.Conclusion CMN is a rare infant renal tumor with unique clinicopathological characteristics.Most of cellular CMNs harbor ETV6 gene translocation.The prognosis of CMN is relative good and needs to be differentiated from other malignant renal tumors.

The research of SurgiCase CMF software in surgical simulation and prediction for mandibular asymmetry / 中华整形外科杂志

<p><b>OBJECTIVE</b>To evaluate the predictive accuracy of the SurgiCase CMF software in surgical simulation and prediction for mandibular asymmetry with 3-dimensional simulation and measurement.</p><p><b>METHODS</b>CBCT data of 27 patients with mandibular asymmetry were observed in CMF, and postoperative soft tissue physiognomy were predicted by simulating sagittal ramus osteotomy with or without genioplasty. The measurement parameters representing the symmetry of soft tissue were selected and the horizontal, coronal and sagittal planes were established. The results were analyzed by SPSS 19. 0. The overlap compared color grading charts were observed.</p><p><b>RESULTS</b>Angles between cheilions and the horizonta plane (Ch-Ch-FH) in the simulation and postoperative soft tissues are (2. 35 ± 1. 81)° and (1. 44 ± 1. 13)°. The angles constructed among subnasale, upper lip and lower lip (Sn-UL-LL) are (4. 02 ± 3. 05)° and (2. 59 ± 1. 64)°, showing statistically different (P < 0. 01, P < 0. 05), which means that predictive accuracy of the lip canting and lip vertical deviation is relatively low. Distance between gonioi and sagittal plane (Go'-MS), distance between gonion and pogonion (Go'-Pog') and angle betweer subnasale to menton and the horizontal plane (Sn-Me'-MS) are not statistically different, which mean! high predictive accuracy of mandibular angle and chin. By observing the overlap compared color gradin-) charts, the predictive accuracy is not good in the cheek, especially in the deviate side.</p><p><b>CONCLUSIONS</b>The predictive accuracy of CMF system for patients with mandibular asymmetry is relatively high, but it is not good in the lip and cheek. The software improvement is still necessary.</p>