How to distinguish a benign from a malignant tumour in children and when should a biopsy be done and by whom.

Bone tumours are frequent in children but most of them are benign. Moreover, the incidence and type of tumours differ from those of adults. As an orthopaedic surgeon, we will likely encounter a bone lesion in a child and we must be able to distinguish if it is a benign lesion or has malignant characteristics and it is necessary to refer it to a centre specialized in tumours. We will discuss the key points we would have to ask in the medical history, look at the physical examination and the radiological characteristics that will allow us to distinguish between a benign and a malignant bone lesion in a child. When there are doubts about the malignancy of a bone lesion or if the diagnosis is not clear, a biopsy should be performed following certain rules in a specialized centre.

The fate of the malrotated elbow supracondylar fractures in children: is varus really a problem?

PURPOSE: To evaluate the functional and cosmetic effects of elbow supracondylar fractures (SCF) in children with residual rotational deformity. METHODS: Retrospective review cohort of patients with evidence of malrotation after treatment for SCF. An analysis of the postoperative X-ray of 305 consecutive SCF type 3 treated surgically during five years identified 46 elbows with rotational deformity that fulfilled the selection criteria and were recalled for review; only 27 patients agreed to participate. Patients were evaluated clinically and radiographically. Clinically, the elbow and shoulder ROM were assessed. The postoperative fracture rotation (PFR) was radiologically measured using the Berdis method. Results were categorized according to Flynn criteria, and functional outcomes were evaluated with the QuickDASH questionnaire. On final assessment, a radiograph of both elbows was obtained, and measures were compared. Descriptive analysis was made calculating median, range, proportions, and confidence intervals. Non-parametric tests were used to test the association between variables. RESULTS: The group had a median age of four years and a median follow-up of 52 months. Shoulder rotation was asymmetrical in 13 patients; six patients presented a change on carrying angle > 5° (4 varus/2 valgus). The higher the residual rotation, the higher the chances of an altered shoulder rotation (for each degree of PFR, the shoulder rotation was changed to 0.4°). However, there was a low correlation between the amount of rotation and the final carrying angle (r = 0.37). According to Flynn's criteria, over 95% had excellent or good results. CONCLUSION: There was a weak correlation between varus and rotational malalignment. Patients with moderate residual malrotation could be expected to have a good outcome even if some shoulder rotation changes persist.

Surgical treatment of pycnodysostosis associated with pathological tibial fracture : Case report and review of the literature.

BACKGROUND: Pycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of the cortex and narrowing of the medullary canal. CASE PRESENTATION: We present the case of a 4-year-old girl diagnosed with pycnodysostosis and associated pathological tibial fracture. The tibia had an absence of medullary canal. Surgery included reduction and reaming of the canal with placement of a 5 mm diameter telescopic growing nail. CONCLUSION: The presentation of pycnodysostosis as tibial fracture is rare and there is limited literature on its management. We showed its approach focusing mainly on the management of the absent medullary canal.

Diagnosis and staging of malignant bone tumours in children: what is due and what is new?

PURPOSE: Although malignant bone tumours in children are infrequent, it is important to know how to properly diagnose and stage them, in order to establish an adequate treatment. METHODS: We present a review of the diagnostic workflow of malignant bone tumours in children, including history and clinical examination, imaging, laboratory tests and biopsy techniques. Moreover, the two most commonly used staging systems are reviewed. RESULTS: History, clinical examination and laboratory tests are nonspecific for diagnosing malignant bone tumours in children. Radiographs remain the mainstay for initial diagnosis, with MRI the modality of choice for local assessment and staging. Fluorine-18 labelled fluoro-deoxy-glucose-positron emission tomography scans provide a noninvasive method to assess the aggressiveness of the tumour and to rule out metastasis and is replacing the use of the bone scintigraphy. Biopsy must be always performed under the direction of the surgeon who is to perform the surgical treatment and after all diagnostic evaluation has been done. Staging systems are useful to study the extent of the tumour and its prognosis. They are expected to evolve as we better understand new molecular and genetic findings. CONCLUSION: When a malignant bone tumour is suspected in a child, it is essential to make a correct diagnosis and referral to an experienced centre. Following an appropriate workflow for diagnosis and staging facilitates, prompt access to treatment improves outcomes. LEVEL OF EVIDENCE: Level V Expert opinion.

Biology and technology in the surgical treatment of malignant bone tumours in children and adolescents, with a special note on the very young.

PURPOSE: The main challenge in reconstruction after malignant bone tumour resection in young children remains how and when growth-plates can be preserved and which options remain if impossible. METHODS: We describe different strategies to assure best possible long-term function for young children undergoing resection of malignant bone tumours. RESULTS: Different resources are available to treat children with malignant bones tumours: a) preoperative planning simulates scenarios for tumour resection and limb reconstruction, facilitating decision-making for surgical and reconstructive techniques in individual patients; b) allograft reconstruction offers bone-stock preservation for future needs. Most allografts are intact at long-term follow-up, but limb-length inequalities and corrective/revision surgery are common in young patients; c) free vascularized fibula can be used as stand-alone reconstruction, vascularized augmentation of structural allograft or devitalized autograft. Longitudinal growth and joint remodelling potential can be preserved, if transferred with vascularized proximal physis; d) epiphysiolysis before resection with continuous physeal distraction provides safe resection margins and maintains growth-plate and epiphysis; e) 3D printing may facilitate joint salvage by reconstruction with patient-specific instruments. Very short stems can be created for fixation in (epi-)metaphysis, preserving native joints; f) growing endoprosthesis can provide for remaining growth after resection of epi-metaphyseal tumours. At ten-year follow-up, limb survival was 89%, but multiple surgeries are often required; g) rotationplasty and amputation should be considered if limb salvage is impossible and/or would result in decreased function and quality of life. CONCLUSION: Several biological and technological reconstruction options must be merged and used to yield best outcomes when treating young children with malignant bone tumours. LEVEL OF EVIDENCE: Level V Expert opinion.

Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas from 10 centres were studied. Median age was 11.5 years (range 1-18). Twenty-two (31%) had at least one pathogenic alteration by NGS. Thirty pathogenic mutations in 18 different genes were detected amongst the 22 patients. The most frequent alterations were found in TP53, followed by FGFR4 and CTNNB1. Combining all biological studies, 18 actionable variants were detected and six patients received targeted treatment observing a disease control rate of 78%. Extrapolating the results to the whole cohort, 23% of the patients would obtain clinical benefit from this approach. Conclusions: Paediatric sarcomas have a different genomic landscape when compared to adult cohorts. Incorporating NGS targets into paediatric sarcomas' therapy is feasible and allows personalized treatments with clinical benefit in the relapse setting.

Talipes Equinovarus Treatment in Infants Treated by the Ponseti Method Compared With Posterior-Only Release: A Mid-Childhood Comparison of Results.

The aim of this study is to evaluate children in middle childhood with clubfoot treated with Ponseti method vs posterior-only release and to compare their results to a control group with 4 modules (physical examination, gait study, radiographic measurements, and questionnaires). From 01/01/2004 until 01/01/2009, 31 children (45 feet) were treated with the posterior-only release protocol and 22 patients (34 feet) were treated with the Ponseti method. In 2016, patients were evaluated and compared with 25 children without neuromuscular disorders. Parents completed 3 outcome questionnaires. Radiographs evaluated residual deformity and osteoarthritis. A physical examination and a 3-dimensional gait analysis were performed to evaluate range of motion, kinematic, and kinetic data. Recurrence rate was similar between treatment groups; however, type of surgery to treat residual deformity was more aggressive in the posterior-only release (91% required major surgery), p = .024. Radiographic examination showed similar residual deformity with greater hindfoot varus in posterior-only release (68%), p = .02. Reduced cadence, increased stance dorsiflexion, calcaneus gait and forced eversion prior to swing were the main characteristics of gait in posterior-only release. Four (11%) feet treated with posterior-only release vs 11 (33%) feet treated with Ponseti method had a normal gait, p = .016. Our study showed that biomechanical function and long-term outcomes of children in middle childhood treated with the Ponseti method more closely compare with healthy individuals than those treated using posterior-only surgical technique.

Intra-articular Radial Head Fractures: A Deceptive Type of Injury.

BACKGROUND: Isolated intra-articular radial head (IARH) fractures in skeletally immature patients represent a rare injury. Despite their initial benign radiologic appearance, these fractures are at risk for progressive radial head subluxation and may end with degenerative irreversible changes of the radiocapitellar joint. The aim of this study is to highlight the seriousness of these injuries and the importance of early diagnosis and a proper follow-up to achieve optimal outcomes. METHODS: We retrospectively reviewed 6 patients with IARH fractures treated at our institution between 2011 and 2016. All patients presented with Salter-Harris types III or IV fracture. Five of 6 fractures were initially undisplaced. Treatment, clinical, and radiographic results were analyzed. Patients were divided into 2 groups according to treatment: patients included in group A were treated conservatively, whereas patients of group B were treated with early surgery. The final functional outcome was assessed using the Oxford Elbow Score (OES). The Broberg-Morrey classification was used for the radiographic results. RESULTS: Group A included 3 patients (average age, 11±2 y). They developed an initially missed posterior subluxation of the radiocapitellar joint that caused to all of them a painful elbow and limited range of motion (ROM). Despite rescue surgery, they all presented with limited ROM at the final follow-up, although no functional limitations (OES, 46.3±2.9). The radiographs showed early degenerative changes. Group B included 3 patients (average age, 11±1 y) all treated surgically within 1 week from the injury. They showed no limitation of ROM and good functional (OES, 47.7) and radiologic outcomes. CONCLUSIONS: IARH fractures in skeletally immature children are deceptive injuries which are often underestimated. Surgeons should be aware of these fractures, especially when a discrepancy between the clinical signs and symptoms, and the radiologic appearance exists, as this may be the only red flag that allows their identification in the acute setting. An early and accurate diagnosis followed by prompt and more aggressive treatment when necessary is mandatory for successful results. LEVEL OF EVIDENCE: Level IV-case series.

Pediatric Pelvic Fractures and Differences Compared With the Adult Population.

INTRODUCTION: Although pelvic fractures in children are rare, because of anatomical differences between an adult's skeleton and a child's skeleton, these lesions in the pediatric population have specific characteristics that need to be borne in mind when dealing with them. MATERIALS AND METHODS: A retrospective chart review was performed on the pelvic fractures in skeletally immature patients treated in our hospital in the last 20 years. RESULTS: Eighty-one pelvic fractures in children were treated between 1993 and 2013. The mean age was 9.98 years, with 61.7%(50/81) boys and 38.2% (31/81) girls. A traffic accident was the main injury mechanism (74%, 60/81), and height fall was in second place (16%, 13/81). Following Tile pelvic fracture classification, type A2 was the most frequent (58.04%, 47/81); and following Torode and Zieg classification, type IIIA (45.68%, 37/81).Associated injuries were present in 77.8% (63/81) of the patients; fractures of other bones and head trauma were the most frequent. An acetabular fracture was present in 13.5% (11/81) of the patients.Nonsurgical treatment was chosen for all the pelvic fractures except in 4 patients, which required surgical management for their pelvic injuries. Blood transfusion was required in 32% (26/81) of the patients, and arterial embolization was not needed in any case. Furthermore, 11.1% (9/81) required a stay in the pediatric care unit, and the death rate was 8.64% (7/81).The mean length of hospital stay was 12.4 days. CONCLUSIONS: Because of the specific characteristics of pelvic fractures in children, fracture patterns are less severe than those of adults, but the injury mechanisms are high-energy traumas. The rate of associated injuries is very high, and a multidisciplinary management in pediatric trauma centers is needed to treat these patients.

Free microvascular rotationplasty with nerve repair for rhabdomyosarcoma in a 18-month-old patient.

Rotationplasty is a limb-sparing surgical option in lower limb malignancies. Sciatic or tibial nerve encasement has been considered an absolute contraindication to this procedure. We report a case of an 18-month-old girl with a rhabdomyosarcoma that affected the leg and popliteal fossa, with neurovascular involvement. Knee and proximal leg intercalary resection was performed followed by reconstruction with free microvascular rotationplasty and neurorraphy from tibial division of sciatic nerve to sural and tibial nerves, and from saphenous nerve to superficial peroneal nerve. Postoperative course was uneventful and ambulation with a provisional prosthesis was restarted during the sixth week after surgery. Bone consolidation was observed after two months. Eighteen months later, the patient had a good gait pattern with a below-knee prosthesis and had recovered sensation in the whole foot and ankle area. This case shows that rotationplasty with nerve repair may provide a sensate stump, which is vital for successful prosthetic adaptation. We believe it may be considered as an alternative to above-knee amputation in tumors with sciatic involvement.

Postrelapse Prognostic Factors in Nonmetastatic Osteosarcoma: A Single-institution Experience.

PURPOSE: The purpose of this study was to analyze the prognostic factors that influence postrelapse survival (PRS) in children and adolescents with initial localized high-grade osteosarcoma. METHODS/PATIENTS: This is a retrospective evaluation of patients aged 21 years and below with nonmetastatic high-grade osteosarcoma treated at our institution from 1985 to 2011 who developed recurrent disease after achievement of an initial complete response (CR). PRS and postrelapse event-free survival (PREFS) analyses were performed using the Kaplan-Meier method and log-rank test. Multivariate Cox regression analysis was used to determine which variables were independently prognostic. RESULTS: Thirty-one patients were included. Median age at primary diagnosis was 13.7 years (range, 1.9 to 21.0 y). Median time to first relapse was 16 months (range, 3 to 36 mo). Fourteen patients achieved a second CR (CR2) after surgery±chemotherapy treatment. The 5-year PRS and PREFS were both 26% (95% confidence interval, 14%-49%), with a median follow-up of 99 months (range, 27 to 271 mo). Multivariate analysis showed that achievement of CR2 (P<0.001) and histologic response to first-line treatment (P=0.02) were significantly associated with PRS, whereas time to first relapse did not retain univariate significance. CONCLUSIONS: Achievement of CR2 and histologic response to preoperative first-line treatment are independent survival prognostic factors in osteosarcoma recurrence.

Presentation and Long-term Outcome of High-grade Osteosarcoma: A Single-institution Experience.

PURPOSE: To evaluate clinicopathologic characteristics, prognostic factors, and treatment outcome of pediatric/adolescent high-grade osteosarcoma patients. METHODS/PATIENTS: Retrospective evaluation of patients 21 years of age or younger with newly diagnosed high-grade osteosarcoma treated in a single institution. Effects of variables on event-free survival and overall survival (OS) were determined by using Kaplan-Meier survival analysis. Variables found to be significant were evaluated with multivariable Cox regression analysis. RESULTS: Seventy-seven patients diagnosed between January 1985 and December 2011 were included. Median follow-up time was 11.0 years (range, 1.6 to 26.4 y). Event-free survival at 5 and 10 years was 38%±11% and 38%±11%, respectively. OS at 5 and 10 years was 51%±12% and 45%±12%, respectively. Metastatic disease, prolonged time interval to resumption of chemotherapy, lower tumor necrosis rate, and lack of achievement of complete response at the end of first-line chemotherapy treatment were associated with inferior OS probabilities in univariate analysis. Upon multivariate analysis, only achievement of complete response at the end of first-line chemotherapy and tumor necrosis rate retained independent prognostic significance. CONCLUSIONS: Prognostic factors and long-term survival are similar to those previously described. Reduction of global time interval to resumption of chemotherapy as well as a more specific and validated definition of pulmonary metastases at diagnosis are needed.

Orthopedic versus surgical treatment of Gartland type II supracondylar humerus fracture in children.

The choice of orthopedic or surgical treatment for Gartland type II supracondylar humeral fractures remains controversial. The aim of this study was to retrospectively compare the outcomes in orthopedic and surgical treatment in type II supracondylar humeral fractures in children treated in the Orthopedic and Traumatology Children Unit of our tertiary hospital over the period between 2007 and 2010. This study suggests that orthopedic treatment is a valid option for the treatment of this type of fractures, with radiological and functional results as good as those obtained with surgical treatment, avoiding surgical complications and decreasing the hospital stay.