Diagnostic value of H3F3A mutation and clinicopathological features of giant cell tumours in non-long bones.

Aims: A histone H3F3A (H3.3) mutation involving a substitution in H3.3 G34 recently has been reported in GCTB within the frequency range (from 69 % to 96 %) and is a helpful diagnostic indicator of GCTB. However, the relationship between H3F3A mutations and the clinicopathological feature of GCTB involving non-long bones (irregular bones and small bones) is unclear. Methods and results: H3F3A mutations were observed in a cohort of specimens (230 samples of GCTB) using immunohistochemistry and Sanger sequencing. The relationship between H3F3A mutations and the clinicopathological characteristics of patients with GCTB occurring in the non-long bones of the appendicular skeleton was investigated. No significant difference between H3F3A mutations in GCTB arising in non-long bones and the classic sites was found (P = 0.483). GCTB in non-long bones occurred more common in female (31/49, 63.3 %) than in male patients (P = 0.016). GCTB with H3.3 G34L/V/R mutation occurred more often in younger patients compared with those with H3.3 G34W mutation (P = 0.009). The majority of GCTB with soft tissue extension developed in irregular bones but not in small bones (P = 0.061). The H3.3 G34L/V/R mutations rate (7/45) in the non-long bones was significantly higher than that in long bones. The recurrence rate of the GCTB in long bones and non-long bones was 23.3 % (45/193) including 43 cases with local recurrene and 2 cases with lung metastasis. No recurrence occurred in cases with G34V/L/R mutations. Conclusions: H3F3A was an effective diagnostic marker for GCTB of the non-long bones. The younger patients with GCTB of the non-long bones harboured H3.3 G34L/V/R mutations and may had a female preference and rarely recurrent.

IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.

BACKGROUND: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. METHODS: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of IDH1 and IDH2 genes in multiple neoplastic tissues. RESULTS: A majority of the tumours displayed an IDH1 mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient). CONCLUSIONS: IDH1 mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical IDH1 mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical IDH1 mutation with the corresponding cartilaginous tumour. We further provided evidence that IDH mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.

Rotating neurons for all-analog implementation of cyclic reservoir computing.

Hardware implementation in resource-efficient reservoir computing is of great interest for neuromorphic engineering. Recently, various devices have been explored to implement hardware-based reservoirs. However, most studies were mainly focused on the reservoir layer, whereas an end-to-end reservoir architecture has yet to be developed. Here, we propose a versatile method for implementing cyclic reservoirs using rotating elements integrated with signal-driven dynamic neurons, whose equivalence to standard cyclic reservoir algorithm is mathematically proven. Simulations show that the rotating neuron reservoir achieves record-low errors in a nonlinear system approximation benchmark. Furthermore, a hardware prototype was developed for near-sensor computing, chaotic time-series prediction and handwriting classification. By integrating a memristor array as a fully-connected output layer, the all-analog reservoir computing system achieves 94.0% accuracy, while simulation shows >1000× lower system-level power than prior works. Therefore, our work demonstrates an elegant rotation-based architecture that explores hardware physics as computational resources for high-performance reservoir computing.

Clonality analysis and IDH1 and IDH2 mutation detection in both components of dedifferentiated chondrosarcoma, implicated its monoclonal origin.

Dedifferentiated chondrosarcoma (DDCS) is a highly malignant tumor that belongs to an uncommon subtype of chondrosarcoma with a poor prognosis. Microscopically, it is composed of highly differentiated chondrosarcoma and highly malignant noncartilaginous sarcomas with an abrupt interface. The question of whether the two components originated from the same archaeocyte has not yet been clarified. To further investigate this issue, DNA was separately extracted from the two components of the same patient. In total, 18 DDCS patients were analyzed. A portion of DNA samples from 9 female patients was used for clonality analysis. Another portion of DNA from 9 female and DNA from 9 male patients was used for isocitrate dehydrogenase 1(IDH1) and IDH2 gene mutation detection. The results of clonality analysis showed that the same X chromosome inactivation and consistent mutation states of the IDH1 and IDH2 genes in the two DDCS components. We conclude that the two DDCS components originate from the same primitive cell and that DDCS is monoclonal in origin.