Objective: Femoroacetabular impingement (FAI) and hip dysplasia are the most common causes of groin pain originating from the hip joint. To date, there is controversy over cut-off values for the evaluation of abnormal femoral head-neck anatomy with significant overlap between the normal and abnormal hips. Our aim was to perform three-dimensional CT analysis of femoral head and bump anatomy to quantify common hip pathologies (FAI and hip dysplasia) vs controls. Methods: Consecutive patients who underwent three-dimensional CT imaging for hip dysplasia or CAM type FAI were compared to asymptomatic controls. α angles on radial CT and 3D volumetric femoral head and bump segmentations were performed by two readers. Inter- and intrapatient comparisons were performed including interreader and receiver operating characteristic analyses. Results: 25 FAI patients, 16 hip dysplasia patients and 38 controls were included. FAI and dysplasia patients exhibited higher α angles and higher bump-head volume ratios than the controls (p < 0.05). Larger bump volumes were found among FAI than dysplasia patients and contralateral hips of FAI patients were also different than the controls. α angle at 2 o’clock and bump to head ratio showed the highest area under the curve for patients vs controls. The interreader reliability was better for volumetric segmentation (intraclass correlation coefficient = 0.35–0.84) as compared to the α angles (intraclass correlation coefficient = 0.11–0.44). Conclusion: Patients with FAI and dysplasia exhibit different femoral head anatomy than asymptomatic controls. Volumetric segmentation of femoral head and bump is more reliable and better demonstrates the bilateral femoral head anatomy differences in hip patients vs controls. Advances in knowledge: Utilizing information from 3D volumetric bump assessment in patients with FAI and dysplasia, the physicians may be able to more objectively and reliably evaluate the altered anatomy for better pre-surgical evaluation.
A primitive neuronal component is a feature of some glioblastomas but defining molecular alterations of this histologic variant remains uncertain. We performed next-generation sequencing of 1500 tumor related genes on tissue from 9 patients with glioblastoma with a primitive component (G/PN) and analyzed 27 similar cases from the Cancer Genome Atlas (TCGA) dataset. Alterations in the RB pathway were identified in all of our patients’ tumors and 81% of TCGA tumors with the retinoblastoma tumor suppressor gene (RB1) commonly affected. Although RB1 mutations were observed in some conventional glioblastomas, the allelic fractions of these mutations were significantly higher in tumors with a primitive neuronal component in both our and TCGA cohorts (median, 72% vs 25%, p < 0.001 and 80% vs 40%, p < 0.02, respectively). Further, in 78% of patients in our cohort, RB expression was lost by immunohistochemistry. Our findings indicate that alterations in the RB pathway are common in G/PNs and suggest that inactivation of RB1 may be a driving mechanism for the phenotype.
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