Giant cell tumor of bone (GCTB) and tenosynovial giant cell tumor (TGCT) share misleadingly similar names, soft texture and brown color macroscopically, osteoclast-like multinucleated giant cells ...microscopically and localisation in the musculoskeletal system. However, these two tumor types are biologically and clinically two distinct entities with different natural courses of progression and considerably different modes of surgical and medical treatment. In this article, we provide a detailed update on the similarities and the differences between both tumor types.
GCTB is a locally aggressive osteolytic bone tumor, commonly seen in patients in their third decade of life. It usually occurs as a solitary lesion in the meta-epiphyseal region of long bones. It can be diagnosed using plain radiographic imaging, CT radiography or MRI to estimate the tumor extent, soft tissue and joint involvement. GCTB is usually treated with intralesional excision by curettage. Systemically, it can be treated with bisphosphonates and denosumab or radiotherapy.
TGCT is a rare, slowly progressing tumor of synovial tissue, affecting the joint, tendon sheath or bursa, mostly seen in middle-aged patients. TGCT is usually not visible on radiographs and MRI is mostly used to enable assessment of potential bone involvement and distinguishing between two TGCT types. Localised TGCT is mostly treated with marginal surgical resection, while diffuse TGCT is optimally treated with total synovectomy and is more difficult to remove. Additionally, radiotherapy, intraarticular injection of radioactive isotopes, anti-TNF-α antibodies and targeted medications may be used.
Abstract In a single-surgeon series of 119 patients with unilateral primary uncemented total hip arthroplasty, four leg-length discrepancy measurement methods (absolute, relative, trochanteric, ...standardized-trochanteric) were analyzed for their impact on WOMAC score, Oxford Hip Score and self-perceived leg-length discrepancy. After adjustment for age, gender and BMI, postoperative WOMAC scores correlated only with clinical absolute measurements of leg elongation ( P = 0.05). Self-perceived leg-length discrepancy corresponded best to the clinically measured relative leg-length discrepancy (11 mm perceived vs. 7 mm unperceived; P = 0.04) while there was no significant correspondence with radiographic measurements or leg elongation magnitudes. Within the < 10 mm range of mean postoperative leg length discrepancy in the studied series, its impact on the overall clinical satisfaction was detectable but not considerable.
Introduction
The femoral stem should protrude from femur by an appropriate vertical distance to allow leg length equalization at hip arthroplasty; this distance depends on the size/shape of medullary ...canal and implant. The relationship between femoral morphology and achievability of leg length restoration is currently unclear. Our aim was to examine the impact of the femoral canal flare index (CFI) on the risk of leg length discrepancy (LLD) after total hip arthroplasty with different femoral stems.
Materials and methods
The study cohort included 126 patients with unilateral primary total hip arthroplasty due to idiopathic osteoarthritis and three different types of implanted femoral stems. The impact of CFI on postoperative LLD was assessed with separate logistic regression model for each implant and covariables of age, gender, body mass index and femoral neck resection level.
Results
Higher CFI was an independent risk factor for postoperative LLD ≥ 5 mm with odds ratio 4.5 (
p
= 0.03) in 49 stems with cementless metaphyseal fixation Implantcast-EcoFit®, regardless of the femoral neck resection level. CFI had no significant impact on LLD in 30 stems with cementless diaphyseal fixation EndoPlus-Zweymüller® or 47 cemented collared stems Link-SPII®. No significant difference was observed between groups in pre/postoperative WOMAC scores, postoperative radiographic LLD, subjectively reported LLD, insole use or complications after mean 6.8 years of follow-up.
Conclusions
Higher CFI increases the risk of clinically detectable postoperative LLD in single-wedge femoral stems with cementless metaphyseal fixation. CFI has no significant impact on LLD in femoral stems with cementless diaphyseal fixation or cemented fixation.
Aneurysmal (ABC) and simple bone cysts (SBC) have been traditionally distinguished by radiological and histopathological features. However, there is some radiological and histopathological overlap ...between ABC and SBC. ABC is characterised by
USP6
fusions while, recently,
NFATC2
fusions have been found in a large proportion of SBC. Identifying these fusions may assist in confirming the diagnosis of either ABC or SBC. To elaborate the potential benefit of molecular testing, we report a prospective series of 19 consecutive bone cysts with comprehensive radiological, histopathological and molecular diagnostics. Integrating radiological, histopathological and molecular findings, 11 cysts were diagnosed as SBC and 8 as ABC. Radiologically, 6 of 11 SBC and 6 of 8 ABC were diagnosed as ABC. Fibrin-like collagen deposits were identified in 8 of 11 (73%) SBC and 3 of 8 (38%) ABC. Nodular fasciitis-like areas were identified in 6 of 8 (75%) ABC and in 7 of 11 (64%) SBC. A
USP6
fusion was identified in all 8 ABC, including a novel
RBM5-USP6
fusion. An
NFATC2
fusion was found in 7 of 11 SBC (
FUS-NFATC
2 fusion in 5 and
EWSR1-NFATC2
in 2 cases). There is radiological and histopathological overlap between SBC and ABC in a significant proportion of cases. A diagnosis of ABC is frequently suggested radiologically in SBC, and fibrin-like deposits, thought to be specific for SBC, may be found in some ABC. Molecular testing may significantly improve diagnostic accuracy in bone cysts.
Purpose
To retrospectively analyze the entire cohort of patients in the Republic of Slovenia diagnosed with bone sarcomas in the long bones or pelvis/sacrum/coccyx from January 1, 2009, to December ...31, 2018, with an observational nationwide study, whereby all patients were evaluated by one single tumor board in the country. We evaluated surgical outcomes and tested whether survival of bone sarcoma patients depended on age, gender, histological diagnosis.
Materials and methods
Cancer Registry of the Republic of Slovenia was screened for all ICD-10 diagnoses from C40.0 to C40.9 and C41.4 in the designated time frame, and the patients were then clinically followed up until the end of the observation period on June 1, 2019.
Results
The cohort of 160 patients was treated surgically in 141 cases, 29 patients required subsequent revision(s) and cumulative endoprosthetic infection rate was 12.5%. In the follow-up, 54 patients died and the 2 patients were missing. Cumulative proportion of survival at 5/10 years was 61%/54%, respectively. After adjustment for age, gender and diagnosis, higher age (odds ratio 1.06 for each additional year), osteosarcoma (odds ratio 4.07) and Ewing sarcoma (odds ratio 11.68) were the significant risk factors of shorter oncological survival.
Conclusion
This is the first Slovenian nationwide cohort study of bone sarcoma patients, unique in its circumscribed geographic area and evaluation/treatment at a single center by a single tumor board. Although comparable to other countries, results show a grim picture and the lack of improvement in bone sarcoma survival within the last 20 years.
Femoral stems with bimodular (head-neck as well as neck-body) junctions were designed to help surgeons address patients' hip anatomy individually. However, arthroplasty registers have reported higher ...revision rates in stems with bimodular junctions than in stems with modularity limited to the head-neck trunnion. However, to our knowledge, no epidemiologic study has identified patient-specific risk factors for modular femoral neck fractures, and some stems using these designs still are produced and marketed.
The purposes of this study were (1) to establish the survival rate free from aseptic loosening of one widely used bimodular THA design; (2) to define the proportion of patients who experienced a fracture of the stem's modular femoral neck; and (3) to determine factors associated with neck fracture.
In this retrospective, nationwide, multicenter study, we reviewed 2767 bimodular Profemur® Z stems from four hospitals in Slovenia with a mean followup of 8 years (range, 3 days to 15 years). Between 2002 and 2015, the four participating hospitals performed 26,132 primary THAs; this implant was used in 2767 of them (11%). The general indications for using this implant were primary osteoarthritis (OA) in 2198 (79%) hips and other indications in 569 (21%) hips. We followed patients from the date of the index operation to the date of death, date of revision, or the end of followup on March 1, 2018. We believe that all revisions would be captured in our sample, except for patients who may have emigrated outside the country, but the proportion of people immigrating to Slovenia is higher than the proportion of those emigrating from it; however, no formal accounting for loss to followup is possible in a study of this design. There were 1438 (52%) stems implanted in female and 1329 (48%) in male patients, respectively. A titanium alloy neck was used in 2489 hips (90%) and a cobalt-chromium neck in 278 (10%) hips. The mean body mass index (BMI) at the time of operation was 29 kg/m (SD ± 5 kg/m). We used Kaplan-Meier analysis to establish survival rates, and we performed a chart review to determine the proportion of patients who experienced femoral neck fractures. A binary logistic regression model that controlled for the potential confounding variables of age, sex, BMI, time since implantation, type of bearing, diagnosis, hospital, neck length, and neck material was used to analyze neck fractures.
There were 55 (2%) aseptic stem revisions. Survival rate free from aseptic loosening at 12 years was 97% (95% confidence interval CI ± 1%). Fracture of the modular neck occurred in 23 patients (0.83%) with a mean BMI of 29 kg/m (SD ± 4 kg/m.) Twenty patients with neck fractures were males and 19 of 23 fractured necks were long. Time since implantation (odds ratio OR, 0.55; 95% CI 0.46-0.66; p < 0.001), a long neck (OR, 6.77; 95% CI, 2.1-22.2; p = 0.002), a cobalt-chromium alloy neck (OR, 5.7; 95% CI, 1.6-21.1; p = 0.008), younger age (OR, 0.91; 95% CI, 0.86-0.96; p < 0.001), and male sex (OR, 3.98; 95% CI, 1.04-14.55; p = 0.043) were factors associated with neck fracture.
The loosening and neck fracture rates of the Profemur® Z stem were lower than in some of previously published series. However, the use of modular femoral necks in primary THA increases the risk for neck fracture, particularly in young male patients with cobalt-chromium long femoral necks. The bimodular stem we analyzed fractured unacceptably often, especially in younger male patients. For most patients, the risks of using this device outweigh the benefits, and several dozen patients had revisions and complications they would not have had if a different stem had been used.
Level III, therapeutic study.
Purpose
Leg-length changes at total hip arthroplasty (THA) may result from too proximal position of the femoral component, i.e. not being sunk deep enough into the femoral canal due to the size and ...shape of both medullary canal and implant. Some femoral implants are designed to achieve such fixation in the mediolateral dimension, while others also engage the bone anteroposteriorly. Our aim was to examine the relationship between proximal femoral morphology, osseointegration and leg-length equalization at THA. We asked whether the Dorr classification, femoral cortical index and canal flare index on preoperative radiographs had significant impact on THA aseptic loosening rates and post-operative leg-length discrepancy (LLD).
Methods
Literature review included original articles on proximal femoral morphology with post-operative LLD and other clinical outcomes of THA, published in the last decade. Case reports and biomechanical studies without clinical data were excluded.
Results
Higher femoral cortical index and/or canal flare index (corresponding to the Dorr type A) increases the risk of leg lengthening at THA. This is particularly notable in femoral stems with metaphyseal fixation, where high canal flare index has also been linked to osseointegration failure and implant loosening. On the other hand, lower canal flare index (corresponding to the Dorr type C) is more prevalent in the elderly population and increases late periprosthetic fracture rates and stress shielding. Even the most commonly used cementless femoral stems cannot offer optimal fit to intra-/extramedullary geometry or offset restoration in up to 30% of clinical cases.
Conclusions
Femoral morphology can have significant impact on post-operative LLD and osseointegration of cementless THA. Quantitative measurements of the proximal femoral canal may improve the choice of a particular implant and fixation method.
A simple bone cyst (SBC) is a benign bone lesion of unknown etiology. It can be differentiated from an aneurysmal bone cyst (ABC) by radiologic and histopathologic features, as well as by the absence ...of fusions of the USP6 gene characteristic of an ABC. In an attempt to differentiate between ABC and SBC in a recurrent bone cyst, we performed targeted RNA sequencing and found an EWSR1-NFATC2 fusion and no fusion of the USP6 gene. We subsequently analyzed additional 10 cysts, consistent with SBCs after radiologic-pathologic correlation, for the presence of an NFATC2 gene fusion, by targeted RNA sequencing, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing, and fluorescent in situ hybridization. Targeted RNA sequencing showed a FUS-NFATC2 fusion in 4 of 11 SBCs and an EWSR1-NFATC2 fusion in 2 of 11 SBCs. No fusion was identified in 3 SBCs and the analysis was not successful in 2 SBCs because of the low quantity or poor quality of isolated RNA. All the 6 fusions detected by targeted RNA sequencing were confirmed by RT-PCR and Sanger sequencing, and 5 of the 6 fusions by fluorescent in situ hybridization. An additional FUS-NFATC2 fusion was identified by RT-PCR, Sanger sequencing, and fluorescent in situ hybridization in 1 of the 3 cases negative for fusions by targeted RNA sequencing. At least a large subset of SBCs represents cystic neoplasms characterized by FUS-NFATC2 or EWSR1-NFATC2 fusions, which also define a group of distinct, rare "Ewing-like" sarcomas that predominantly arise in long bones. Our results provide additional evidence of the existence of benign lesions with FUS-NFATC2 or EWSR1-NFATC2 fusions. Although they can recur locally in a nondestructive manner, their clinical course and possible relation to sarcoma with EWSR1-NFATC2 or FUS-NFATC2 fusion remains to be elucidated.
The
gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function,
or maternally inherited variants in
have been associated with an ...X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular non-compaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein's anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a
pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the
gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with
-X-linked intellectual disability syndrome, while recurrent fractures due to multiple non-ossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of
-X-linked intellectual disability syndrome may be broader than currently known.
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