Molecular confirmation that fibrocartilaginous dysplasia is a variant of fibrous dysplasia.

AIMS: Fibrocartilaginous dysplasia (FCD) is a subvariant of fibrous dysplasia (FD). This study aims to retrospectively elucidate the clinicopathological and separate genetic features of the cartilaginous and fibro-osseous components of FCD. METHODS: In total, 24 patients (14 men and 10 women) with FCD were included in our cohort. The diagnosis was confirmed morphologically and immunohistochemically, and genetic features were determined via Sanger sequencing. RESULTS: Five patients were polyostotic, and 19 were monostotic, predominantly concerning the femur. Radiography revealed a well-demarcated ground glass appearance with ring-like or scattered calcification. Histologically, the lesions were characterised by proliferative fibroblasts, immature woven bone and highly differentiated hyaline cartilage. The fibro-osseous components exhibited positive immunoreaction with SATB2 and a low Ki-67 proliferation index. The fibro-osseous and cartilaginous components shared mutations at codon 201 in exon 8 of the guanine nucleotide-binding protein/a-subunit (GNAS) gene, specifically CGT>CAT (p.R201H) in four patients and the wild-type isocitrate dehydrogenase (IDH)1/IDH2 gene. Telomerase reverse transcriptase (TERT) promoter mutations (C288T and C229G) occurred in both fibro-osseous and cartilaginous components in two patients. CONCLUSIONS: FCD encompasses areas of conventional FD with additional cartilage. Importantly, the presence or absence of mutations in the GNAS gene and/or the TERT promoter is common between the fibro-osseous and cartilaginous components of the disease. These results further confirmed FCD as a variant of FD.

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.

Chondroblastoma: clinicopathological analyses of 307 cases from a single institution in China and the diagnostic value of the H3F3 K36M mutant antibody.

AIMS: To elucidate the clinicopathological features and the diagnostic value of mutation specific antibody H3F3 K36M of chondroblastoma (CB) in China. METHODS: Clinicopathological profiles were retrieved, and immunohistochemistry was performed on 185 CB specimens and the control group. RESULTS: Our series included 307 patients with a mean age of 22.1 years. Long tubular bones (63.8%, 196/307) were most commonly involved, followed by short bones of the hands and feet (22.1%, 68/307), sesamoid bones (8.1%, 25/307), flat bones and irregular bones (5.9%, 18/307). The most commonly involved site was the proximal femur, followed by distal femur, proximal humerus and calcaneus. The average age in the long bones group (20.3 years) was significantly younger than the short bones group (24.9 years) (p<0.001), sesamoid bones group (24.4 years) (p=0.02) and flat bones and irregular bones group (29.1 years) (p<0.001). Microscopically, aneurysmal bone cyst-like change (63.6%, 117/184), necrosis (43.5%, 80/184) and chicken-wire calcification (26.1%, 48/184) were variably noted. In rare cases, cortical destruction, soft tissue and lymphovascular invasion were identified. Positive immunoreaction with H3F3 K36M was examined in all non-decalcified, all EDTA decalcified, 87.1% hydrochloric acid (HCl) decalcified CB samples and the high-grade sarcoma secondary to CB, but not the control group. CONCLUSIONS: CB usually involves the long tubular bones in younger age group. H3F3 K36M can identify K36M mutation with 100% specificity and 100% sensitivity in non-decalcified and EDTA decalcified samples, more than 80% sensitivity in HCl decalcified samples. Virtually, all CBs harbour an H3K36M mutation.

[Liposclerosing myxofibrous tumor of bone: a clinicopathologic analysis].

OBJECTIVE: To explore the clinicopathologic features and imaging diagnosis of 17 cases of liposclerosing myxofibrous tumor (LSMFT) and to discuss the mechanism of the disease. METHODS: Cases of LSMFT diagnosed in 2014 were included in this retrospective study. The clinicopathologic features and imaging findings were evaluated. RESULTS: There were 17 cases of LSMFT, occurring in 11 men and 6 women with a mean age of 46 years (range, 26-67 years). Patients were asymptomatic or presented with pain localized over the lesions. Most (13/17) lesions were located in the intertrochanteric region. Radiographs showed well-defined and often extensively sclerotic margin. MRI showed the lesions to be relatively heterogeneous on T1W, and heterogeneous with high signal intensity on T2W with fat suppression. Microscopically, LSMFT was characterized by a complex mixture of histologic elements, including myxofibrous and collagen tissues, lipomatous areas, xanthoma cells, calcification, irregular ossification and pseudo-Paget's bone. CONCLUSIONS: LSMFT is a benign fibro-ossesous lesion with unique imaging characteristics and histologic features, occurring preferentially in some locations. It might represent end-stage degenerative changes in other benign bone lesions such as fibrous dysplasia, simple bone cyst and intraosseous lipoma secondary to trauma from forces and ischemic bone injury exerted on the intertrochanteric region of the femur.

Prevalence of unruptured cerebral aneurysms in Chinese adults aged 35 to 75 years: a cross-sectional study.

BACKGROUND: The reported prevalence of unruptured cerebral aneurysms (UCAs) varies widely. OBJECTIVE: To measure the prevalence of UCAs by using 3-dimensional time-of-flight magnetic resonance angiography in adults aged 35 to 75 years. DESIGN: Cross-sectional study done between June 2007 and June 2011. SETTING: Two communities chosen at random from 2 districts (1 urban and 1 suburban) in Shanghai, China. PARTICIPANTS: 4813 adults aged 35 to 75 years. MEASUREMENTS: Three-dimensional time-of-flight magnetic resonance angiography, interpreted by 3 observers blinded to the participants' information, was used to identify the location and size of UCAs and to estimate the overall, age-specific, and sex-specific prevalence. RESULTS: 369 UCAs were found in 336 participants (130 men and 206 women); 4477 participants had no evidence of UCAs. The prevalence was 7.0% overall (95% CI, 6.3% to 7.7%), with 5.5% for men (CI, 4.6% to 6.4%) and 8.4% for women (CI, 7.3% to 9.5%). The overall prevalence of UCAs was higher in women than in men (P < 0.001) and peaked at ages 55 to 64 years in men and women. The UCAs were mostly located in the internal carotid artery (81%), and 90.2% had a maximum diameter less than 5 mm. Mean diameter was larger in women than in men (3.7 mm vs. 3.2 mm; P < 0.009). LIMITATION: Participants were from 2 communities selected from 2 districts in Shanghai, and adults older than 75 years were not studied. CONCLUSION: The overall prevalence of UCAs was 7.0% in Chinese adults aged 35 to 75 years, and most lesions had a diameter less than 5 mm. PRIMARY FUNDING SOURCE: National Natural Science Foundation of China.

Incidental findings of persistent primitive trigeminal artery on 3-dimensional time-of-flight magnetic resonance angiography at 3.0 T: an analysis of 25 cases.

BACKGROUND AND PURPOSE: Currently, the presence of persistent primitive trigeminal artery (PPTA) is detected by digital subtraction angiography (DSA); most publications on this cerebrovascular variation have been individual case reports. This study is to evaluate the efficacy of 3-dimensional time-of-flight magnetic resonance angiography (3D-TOF MRA) at 3.0 T for the detection and classification of PPTA based on a large case series. MATERIALS AND METHODS: Between June 2007 and October 2008, 4,650 patients underwent magnetic resonance angiography (MRA) examination at 3.0 T in our hospital. MRA was performed using 3D-TOF with volume rendering (VR) and maximum intensity projection (MIP) technique. The PPTA was classified according to the Saltzman classification system. The occurrence of cerebral vascular diseases accompanying PPTA was studied. RESULTS: Among the 4,650 patients with MRA examined, 25 were identified as having PPTA; the prevalence of PPTA was .54%. The Saltzman classification of PPTAs was as follows: type I, 24%; type II, 16%; type III, 60%. Sixteen percent of the cases with PPTA were accompanied with intracranial aneurysm. CONCLUSION: A 3D-TOF MRA at 3.0 T can be used for the detection of PPTA and making a classification of PPTA indirectly. The incidence of PPTA with type III was greater than that of other types of PPTA. Intracranial aneurysm appeared to be associated with PPTA.

Large-cohort comparison between three-dimensional time-of-flight magnetic resonance and rotational digital subtraction angiographies in intracranial aneurysm detection.

BACKGROUND AND PURPOSE: The value of MR angiography varies in diagnosis of intracranial aneurysms due to the difference of equipment and imaging technique. This study was to compare the effectiveness of 3-dimensional time-of-flight MR angiography at 3 T and rotational digital subtraction angiography, both with volume rendering (VR), in detecting intracranial aneurysms. METHODS: One hundred thirty-eight patients with suspected or known aneurysms and other cerebral vascular diseases detected by MR angiography underwent digital subtraction angiography examinations. Postprocessing techniques, including VR and the single artery highlighting method, were performed by a 3-dimensional specialist. The VR-digital subtraction angiography was obtained as the gold standard. RESULTS: The rotational digital subtraction angiography and VR-digital subtraction angiography revealed 146 aneurysms in 122 patients and no aneurysms in 16 patients. Of the 276 vessels examined, 136 vessels had 146 aneurysms and 140 vessels had none. Per vessel and per aneurysm sensitivities were 100%, whereas the per vessel accuracy ranged from 97.5% to 98.6% and the per aneurysm accuracy ranged from 95.1% to 97.0%. CONCLUSIONS: VR 3-dimensional time-of-flight MR angiography at 3 T has excellent sensitivity, accuracy, and correlation with VR-digital subtraction angiography and is comparable to catheter cerebral angiography for the evaluation of patients with intracranial aneurysms who tolerate MR angiography well.