Benign Bone Tumors Research Articles

Clinical Application of Unidirectional Porous Hydroxyapatite to Bone Tumor Surgery and Other Orthopedic Surgery.

Unidirectional porous hydroxyapatite (UDPHAp) was developed as a remarkable scaffold characterized by a distinct structure with unidirectional pores oriented in the horizontal direction and connected through interposes. We evaluated the radiographic changes, clinical outcomes, and complications following UDPHAp implantation for the treatment of bone tumors. Excellent bone formation within and around the implant was observed in all patients treated with intralesional resection and UDPHAp implantation for benign bone tumors. The absorption of UDPHAp and remodeling of the bone marrow space was observed in 45% of the patients at a mean of 17 months postoperatively and was significantly more common in younger patients. Preoperative cortical thinning was completely regenerated in 84% of patients at a mean of 10 months postoperatively. No complications related to the implanted UDPHAp were observed. In a pediatric patient with bone sarcoma, when the defect after fibular resection was filled with UDPHAp implants, radiography showed complete resorption of the implant and clear formation of cortex and marrow in the resected part of the fibula. The patient could walk well without crutches and participate in sports activities. UDPHAp is a useful bone graft substitute for the treatment of benign bone tumors, and the use of this material has a low complication rate. We also review and discuss the potential of UDPHAp as a bone graft substitute in the clinical setting of orthopedic surgery.

Is 3D-printed self-stabilizing endoprosthesis reconstruction without supplemental fixation following total sacrectomy a viable approach for sacral tumours?

The spinopelvic reconstruction poses significant challenges following total sacrectomy in patients with malignant or aggressive benign bone tumours encompassing the entire sacrum. In this study, we aim to assess the functional outcomes and complications of an integrated 3D-printed sacral endoprostheses featuring a self-stabilizing design, eliminating the requirement for supplemental fixation. We retrospectively analyzed patients with sacral tumours who underwent total sacrectomy followed by reconstruction with 3D-printed self-stabilizing endoprosthesis. Clinically, we evaluated functional outcomes using the 1993 version of the musculoskeletal tumour society (MSTS-93) score. Perioperative and postoperative complications were also documented. 10 patients met final inclusion criteria. The median age was 49years (range, 31-64years). The median follow-up time was 26.5months (range, 15-47months). Median postoperative functional MSTS-93 was 22.5 (range, 13-25). The median operation time was 399.5min (305-576min), and the median intraoperative blood loss was and 3200ml (2400-7800ml). Complications include wound dehiscence in one patient, bowel, bladder, and sexual dysfunction in four patients, cerebrospinal fluid leak in one patient, and tumour recurrence in one patient. There were no mechanical complications related to the endoprosthesis at the last follow-up. The utilization of 3D-printed self-stabilizing endoprosthesis proved to be a viable approach, yielding satisfactory short-term outcomes in patients undergoing total sacral reconstruction without supplemental fixation.

Time to full weight-bearing with the use of a calcium sulfate-calcium phosphate bone substitute as a bone void filler following extended curettage in the treatment of primary benign bone tumours.

The primary objective of this study was to determine time to full weight-bearing after the use of a calcium-sulfate-calcium phosphate bone substitute (CaSO4/CaPO4) as a bone void filler in the treatment of primary benign bone tumours following intralesional curettage. The secondary objectives were to determine surgical complications and recurrence rates. Retrospective review of patients identified from a surgeon-specific orthopaedic oncology database, who underwent curettage of benign bone tumours and subsequent bone void filling with CaSO4/CaPO4. A total of 39 patients (20 males, 19 females) met inclusion criteria with an average age of 31years (range: 13 to 62years), a median follow-up of 3.7years, and a maximum follow-up of 11years. The most common tumour diagnosis was giant cell tumour of bone (GCT) (n = 19), and the most common location was the proximal tibia (n = 9). The mean volume of tumour excised was 74.1cm3 including extraosseous bone expansion due to tumour growth, with a mean of volume of 21.4mL of CaSO4/CaPO4 used to fill the intraosseous cavitary defects to restore normal bone anatomy. None of the lesions required additional internal fixation. The primary outcome measure, average time to full weight-bearing/full range of motion, was 11weeks and 6weeks for upper and lower extremity lesions, respectively. Secondary outcomes included tumour recurrence requiring reoperation in five patients and infection requiring reoperation in two patients. This study demonstrates that CaSO4/CaPO4 is a viable option as a bone void filler in the reconstruction of cavitary defects following removal of primary benign bone tumours. CaSO4/CaPO4 provides sufficient bone regeneration early in the post-operative period to allow progression to full weight-bearing within weeks without the need for internal fixation. There were no graft-specific complications noted.

Medial End Clavicular Osteochondroma- An Unusual Case

Abstract Osteochondroma is the most common benign bone tumor, which could present as a sessile or pedunculated type and, in solitary or multiples, hereditary multiple exostoses (a genetic disorder, autosomal dominant inheritance). Clinical presentation is mostly asymptomatic, but if symptomatic, it presents in a wide spectrum, such as compression of adjacent vessels, nerves, deformities, fractures, bursa formation, and malignant transformation. Cancerous transformation is indicated by the thickness of the cartilage cap of >3 cm in children, >2 cm in adults, sudden onset of pain, and sudden/rapid growth of lesion (after growth plate closure). Surgical management is indicated for typical symptomatic lesions, complications, malignant transformation, and cosmetic reasons. The common treatment of choice is the excision of a tumor with a significant free margin.

Recurrent USP6 rearrangement in a subset of atypical myofibroblastic tumours of the soft tissues: low-grade myofibroblastic sarcoma or atypical/malignant nodular fasciitis?

Low-grade myofibroblastic sarcoma (LGMS) is a rarely metastasizing myofibroblastic tumour mostly affecting extremities and the head and neck of adults. Histologically, it shows long infiltrative fascicles of spindle cells with moderate nuclear atypia. By immunohistochemistry, it stains positive for smooth muscle actin (SMA) and sometimes for desmin. To date, no recurrent genetic abnormalities have been described. Ubiquitin-specific peptidase 6 (USP6) gene rearrangement is typically found in some benign bone and soft-tissue tumours including nodular fasciitis (NF), among others. Nevertheless, rare cases of USP6-rearranged tumours resembling NF with atypical features have been reported. One index case of LGMS of the deltoid in a 56-year-old man presented the THBS2::USP6 translocation by RNA sequencing (Archer FusionPlex Sarcoma v2 panel). Further screening of 11 cases of LGMS using fluorescent in situ hybridization (FISH) analysis with a USP6 break-apart probe identified two additional cases. These cases were investigated with RNA-sequencing, and a RRBP1::USP6 translocation was detected in one. The other case was not assessable because of low-quality RNA. Noteworthy, rearranged LGMSs presented distinctive features including variable multinodular/plexiform architecture, prominent vasculature with occasional wall thickening, scattered osteoclast-like multinucleated giant cells, and peripheral lymphoid aggregates. Our findings support the notion that among soft-tissue neoplasms with fibroblastic/myofibroblastic phenotype, USP6 rearrangement is not limited to benign tumours, and warrants further investigation of genetic changes in myofibroblastic sarcomas.

Osteoid osteoma appearing after bony fracture in a girl with osteogenesis imperfecta.

Osteoid osteoma (OO) is a common, benign bone tumor. However, there are no case reports of OO associated with osteogenesis imperfecta (OI), or pathological fractures in OO. A 3-year-old girl with OI sustained a complete right tibial diaphyseal fracture. Bony fusion was completed after 4months of conservative therapy; nevertheless, 18months later spontaneous pain appeared at the fracture site, without any cause. Plain radiographs showed a newly apparent, rounded area of translucency 1cm in diameter, just overlapping the previous fracture. Images obtained using three-dimensional time-resolved contrast-enhanced magnetic resonance angiography showed strong central enhancement in the early phase, with an apparent nidus, suggesting the diagnosis of OO. Nineteen months after the first fracture, while skipping, the patient refractured her tibial diaphysis at the site of the previous fracture. This is a very rare case of OO, apparently co-existing with OI and leading to a bony fracture. In our case, the combination of bone fragility in OI and a recent fracture at the site of the OO may have caused the re-fracture.

En-bloc spondylectomy in the lumbar spine: indications, results and complications in a series of 47 patients affected by primary malignant bone tumors

IntroductionWide Surgery is the reference treatment for malignant and aggressive benign primary bone tumors in the spine. When located in the lumbar spine, En-Bloc Spondylectomy (EBS) remains a complex challenge. Moreover, surgery is complicated by the presence of the diaphragm in the thoracolumbar junction and the hinderance of the iliac wings at the lumbosacral levels. Therefore, EBS in the lumbar spine frequently requires combined approaches.The purpose of this study is to describe clinical presentation, tumor characteristics and results of a series of 47 consecutive patients affected by malignant primary bone tumors of the lumbar spine who underwent EBS.Materials and methods47 patients were reviewed. Complications were distinguished in early and late whether they occurred before or after 30 days from surgery.Overall survival (OS), disease-free survival (DFS) and local recurrence-free survival (LRFS) were calculated by the Kaplan–Meier product-limit method from surgery until relapse or death.Results27 patients presented to observation after a first intralesional approach in a non-specialized center. Chordoma was the most represented histotype. Vertebrectomies were: 23 one-level, 10 two-level, 12 three-level and 2 four-level. Reconstructions were always carried out with screws and rods. The main postoperative complication was blood loss, while hardware failure was the main long-term complication.The 5-year LRFS was 75.5%, the 5-year DFS was 54.3%, and 5-year OS was 63.6%.ConclusionsThe surgical margin obtained during the index surgery was statistically associated with Local Recurrence, DFS and OS, underlining the importance of treating patients in reference centers.

Intraosseous resection of bone tumors: our experience

Introduction. The effectiveness of efficient surgical interventions in patients with benign, borderline, and malignant bone tumors remains an important topic because such operations imply lower injury rate and volume of surgical intervention while being more physiological. In terms of radicality and consequently recurrence rates they are comparable to more traumatic surgeries such as segmental resections with various types of reconstructions (arthrodesis, endoprosthesis, auto- and allotransplantation using bone fragments, et al) and amputation.Aim. To analyze the results of intraosseous resection for benign, malignant, giant cell, and metastatic bone tumors.Materials and methods. Between 2015 and 2023, 45 interventions of intraosseous resection were performed in 44 patients: 19 (43 %) had enchondroma, 6 (14 %) – giant cell tumor, 4 (9 %) – fibrous dysplasia, 3 (7 %) – solitary bone cyst, 3 (7 %) – aneurysmal bone cyst, 2 (5 %) – chondromyxoid fibroma, 4 (9 %) – metastatic bone lesions, 1 (2 %) – osteoid osteoma, 1 (2 %) – benign fibrous histiocytoma, 1 (2 %) – chondrosarcoma G1 . Among them, 27 interventions were performed in combination with adjuvants (liquid nitrogen cryoablation, argon plasma coagulation, hydrogen peroxide, ethanol). In 24 patients, reconstruction was performed using lyophilized corpse bones, in 5 using autotransplant (fragments of the iliac crest), in 10 using plastic material (in 6 – polymethacrylate, in 4 – osseointegrative material “Rekost”), in 6 using xenoplastic material “Silorif.” Additionally, 16 surgeries were augmented with osteosynthesis (14 extramedullary and 3 intramedullary osteosyntheses).Results. Complications in the early postoperative period were observed in 3 (7 %) patients, in the late postoperative period in 2 (5 %) patients. At follow ups (between 2 and 97 months), 42 (95 %) patients did not have signs of recurrence. Musculoskeletal Tumor Society Score (MSTS) at these follow ups in recurrence-free patients was excellent (mean score – 93.6 %) and good (mean score – 77 %). Eastern Cooperative Oncology Group (ECOG) performance status also showed high functional potential of intraosseous resection: its mean value was 0.3.Conclusion. Use of intraosseous resection including augmentation with adjuvant measures, allowed to achieve excellent functional results in 42 (95 %) of patients with mean follow-up duration of 39.8 months. Fractures in 2 patients demonstrate the necessity of extramedullary osteosynthesis in surgeries on long bones experiencing high load irrespective of the volume of intervention. The obtained results show applicability and high effectiveness of intraosseous resection. For certain indications, it can be the treatment of choice.

Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment.

Fibrous dysplasia (FD) is a rare genetic disease with benign bone tumors. FD can affect one (monostotic FD) or multiple bones (polyostotic FD), with craniofacial lesions being common. Because of its rarity, there are only few clinical reports on FD in the head and neck region and its clinical characteristics remain incompletely defined. This study aimed to determine patient demographics, symptoms, diagnostics, and given treatment in patients with FD of the head and neck in a Finnish population. A retrospective review on all patients diagnosed with or treated for FD of the head and neck at the Helsinki University Hospital during 2005-2020. In total 74 patients were identified; 54% were male and the mean age 45years. Overall 95% had monostotic FD. Mandibula and maxilla were the most common anatomic sites. Majority of patients had symptoms, most commonly pain and lesion growth, and 49% had extra-skeletal symptoms. For all, diagnosis was primarily based on imaging findings, biopsies were obtained from 41%. Altogether 54 patients (73%) were managed by observation only, 20 patients (27%) received treatment; ten bisphosphonates, six surgery and four both. Although highly variable in its clinical manifestations, head and neck FD lesions are often symptomatic and impose risk for extra-skeletal complications. Treatment is often conservative but should be individually tailored. Future studies are encouraged to better define the disease characteristics and hopefully offer new treatment possibilities.

Infantile Myofibroma of the Frontal Bone: A Case Report

Background: Infantile myofibroma stands as the most prevalent fibrous neoplasm within the pediatric population, despite its rarity. The majority of these tumors manifest within the initial 2 years of life. Clinically, myofibroma lesions are classified into solitary and multicentric tumors. Methods: We present a case of infantile myofibroma located within the frontal bone of a 16-month-old infant. Initial evaluation of the swelling and its spread was conducted using CT and MRI scans. Subsequently, the diagnosis was confirmed through a core needle biopsy. Results: The tumor underwent surgical excision with 1 cm safety margin and immediate reconstruction with strips of calvaria bone graft. Histopathology of the specimen showed complete tumor clearance with actual margin of 7 mm. Conclusion: The surgical resection of cranial benign bone tumors should be meticulously planned with a multidisciplinary approach. Wherever possible, immediate reconstruction should be conducted to avoid the morbidity of a subsequent procedure.

Intercalary Resection of the Tibia for Primary Bone Tumors: Are Vascularized Fibula Autografts With or Without Allografts a Durable Reconstruction?

Intercalary Resection of the Tibia for Primary Bone Tumors: Are Vascularized Fibula Autografts With or Without Allografts a Durable Reconstruction?

What factors are associated with osteoarthritis after cementation for benign aggressive bone tumor of the knee joint: a systematic review and meta-analysis.

The current systematic review aimed to answer the following questions: (i) Does extended curettage combined with the PMMA technique for the treatment of aggressive bone tumors around the knee led to the development of knee osteoarthritis? (ii) What factors are associated with osteoarthritis after bone cementation around the knee joint? This study was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. All electronic searches were performed on November 20, 2022, by a single researcher who evaluated the full texts of potentially eligible studies to determine inclusion. In these patients, the presence of osteoarthritis secondary to the surgical procedure was investigated. Data extracted included study type, characteristics of participants, sample size, gender, tumor site (femur or tibia), secondary osteoarthritis, tumor volume, distance from the joint cartilage, reoperation, follow-up time, Campanacci grade, and pathological fracture. In total, 11 studies comprising 204 patients were evaluated, and it was found that 61 (30%) patients developed knee osteoarthritis due to extensive curettage and bone cement application for benign aggressive tumor treatment. According to the results obtained based the random effects model with the 11 studies included in the meta-analysis, the mean odds ratio of development knee OA with the 95% CI was calculated as -2.77 (-3.711, -1.83), which was statistically significant (z = -5.79; P < 0.000). The association of distance between the tumor and joint cartilage and development of osteoarthritis was not shown in this meta-analysis. Level IV prognostic study.

Novel and unusual USP6 fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease

AimsThe purpose of this study is to report novel and unusual USP6 fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as...

Endoprosthesis vs. nail-cement spacer application for reconstruction after oncologic proximal humeral resection: is there a difference in functional outcome?

The proximal humerus is a common site for primary malignant and benign aggressive bone tumors, necessitating wide resection and subsequent skeletal defect reconstruction. Various reconstruction options include osteoarticular allografts, autografts, endoprosthesis, nail-cement spacer, reverse shoulder arthroplasty, and allograft-prosthesis composites. However, there is no consensus on the optimal reconstruction method. This study aims to compare functional outcomes and complications between these two methods. A total of 40 patients with proximal humerus tumors who underwent endoprosthesis or nail-cement spacer reconstruction between March 2012 and December 2020 were included. The mean follow-up in the study was 31.37+/- 12 months. Demographic and clinical data were collected, and functional outcomes were assessed using the Musculoskeletal Tumor Society 93 scoring system and the Disabilities of the Arm, Shoulder, and Hand questionnaire. Complications and oncological outcomes were recorded. Both groups were similar in terms of demographic and clinical variables. Endoprosthesis reconstruction demonstrated significantly better active shoulder forward flexion compared to nail-cement spacer (45.8 vs. 25.2 degrees) (P=.015). Endoprosthesis group also exhibited greater active shoulder internal rotation (68.25 vs. 63.25 degrees) (P=.004). No statistically significant differences were observed in overall functional outcomes. Complications, including radial nerve palsy and infection, were comparable between groups, with one case of spacer loosening. Both endoprosthesis and nail-cement spacer reconstruction provide comparable functional outcomes and complication rates following proximal humerus tumor resection. Nail-cement spacer offers a cost-effective alternative for patients in resource-constrained settings.

Pubic Tubercle Osteochondroma

Background: The commonest benign bone tumors, osteochondromas, which can be solitary or multiple involving the metaphyseal region of long bones, rarely present in the axial skeleton, such as pelvic girdle, which warrants surgical excision in case of symptoms arising out of pressure effects.&#x0D; Case Report: In this study, we are herewith reporting an unusual case of pubic tubercle osteochondroma, which is solitary and pedunculated in a 37-year-old woman. She has had the swelling for the past 15 years, which was asymptomatic except for mild hydroureteronephrosis, which was an incidental diagnosis; however, we managed the patient with surgical excision of the tumor with elaborate preoperative radiological imaging using both X-ray and computed tomography (CT) scan. Histopathological examination confirmed the diagnosis of osteochondroma.&#x0D; Conclusion: Asymptomatic pelvic osteochondroma should be considered in patients with incidental swelling in the groin region, especially women who may be reluctant to seek medical attention due to social stigma.

Recurrent benign fibrous histiocytoma of the bone benefits from denosumab followed by malignant transformation: a case report

Benign fibrous histiocytoma of the bone (BFHB) is a rare mesenchymal tumor, representing less than 1% of all benign bone tumors. This controversial entity is characterized by a mixture of fibroblasts arranged in a storiform pattern, varying amounts of osteoclast-type giant cells and foamy macrophages. Curettage or simple resection is usually curative. However, it was reported that up to 11% of the patients suffer from relapse. Here, we report a case of malignant transformation of BFHB after long-lasting disease stabilization under denosumab therapy.

Osteochondroma of Pelvis - A Case Report on Rare and Incidental Finding

Osteochondromas may present in form of multiple hereditary exostosis or solitary osteochondroma. They are derived from aberrant cartilage from the perichondral ring and are benign chondrogenic lesions. Typical presenting age between 10 years to 30 years. They develop as a painless mass and appear on the bone's surface. Osteochondromas frequently occur at the points where tendons insert; the knee (proximal tibia, distal femur), proximal femur, and proximal humerus are common sites. Typically, the patient complains of deformity and swelling or are asymptomatic. They may appear as a pedunculated mass or as a sessile mass. This typically appears as mushroom shaped. It predominantly impacts enchondral ossification bones, occasionally affecting intramembranous ossification bones. We hereby reported a peculiar instance of osteochondroma of pedunculated type developing at a rare site –surface of ilium bone. Keywords Osteochondroma, Pelvis, Incidental, Benign bone tumour

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

BackgroundMultiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature. Data, including age, gender, site, histological grade, cartilage cap thickness, surgical treatments, surgical margins, genotype mutational status as well as treatment details were captured from the hospital electronic health records and from Registry of Multiple Osteochondromas. In addition, a complete histological review of all hematoxylin and eosin (H&E)-stained sections has been performed by expert pathologists.ResultsOne hundred five of the screened cases were included in the present study. The age at diagnosis of SPC ranges from 13 to 63, with median age at diagnosis of 34 years. The site most frequently affected by malignant degeneration was the pelvis (46 patients, 44%) with higher incidence in male patients (32 males vs.14 females). The second one was lower limbs (including femur, fibula, or tibia), identified in 35 patients. Histological information - available for 103 patients – showed: 59 patients with grade 1; 40 patients had a grade 2 and 4 patients had a grade 3. The most common surgical treatment was the complete resection, followed by debulking, amputation and partial resection. Most of cases did not have recurrence of the disease. Outcome in disease-free survival highlights that a worse course of the disease was associated with histological grade 2 or 3, and partial resection surgery. In most of analyzed cases (94%) a pathogenic variant was identified.ConclusionsIn conclusion, the present study gives an overview of the secondary peripheral chondrosarcomas, confirming that this disease represents an impacting complication for multiple osteochondromas patients and suggests that malignant transformation can occur also in younger patient, in a not irrelevant number of cases.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (OCs) through imaging studies and physical examinations. However, cases with both OCs and enchondromas (ECs) may indicate the more rare condition metachondromatosis (MC), which is assumed to be distinct disease. Previous cohort studies of MO found heterozygous loss-of-function (LoF) variants only in the EXT1 or EXT2 genes, with DNA diagnostic yield ranging from 78 to 95%. The PTPN11 gene, which is causative for MC, was not previously investigated as a gene candidate for MO. In this study, we detected a total of 177 unique single nucleotide and copy number variants in three genes across 220 probands, consisting of 80 previously reported and 97 novel variants. Specifically, we identified five cases with OCs and no ECs as well as four cases with MC carrying LoF variants in the PTPN11 gene and two additional cases with ECs harboring variants in the EXT1/2 genes. These findings suggest a potential overlap between the MO and MC both phenotypically and genetically. These findings highlight the importance of expanding genetic testing beyond the EXT1 and EXT2 genes in MO cases, as other genes such as PTPN11 may also be causative. This can improve the accuracy of diagnosis and treatment for individuals with MO and MC. It is essential to determine whether MO and MC represent distinct diseases or if they encompass a broader clinical spectrum.

Management of frontoethmoidal osteoma causing pneumocephalus and cerebrospinal fluid leakage with minimally invasive techniques: illustrative cases.

Osteoid osteoma is a common benign bone tumor frequently seen in the frontoethmoid region. However, involvement of the skull base is rare, with few cases previously reported. The authors report two cases of spontaneous, symptomatic frontoethmoidal osteoma: one presented with neurological deficit secondary to tension pneumocephalus and the other with cerebrospinal fluid leakage. The first case was managed with a transfrontal sinus craniotomy and pneumocephalus decompression with osteoma resection and skull base reconstruction. The second case was managed with a uninaral endoscopic endonasal approach to the anterior skull base with osteoma resection and reconstruction. Given the paucity of cases with associated tension pneumocephalus described in the literature, it was relevant to describe the authors' experience with surgical decision-making and the expected outcomes among patients with this pathology when using minimally invasive techniques.