Primary alveolar rhabdomyosarcoma of bone. / Rabdomiosarcoma alveolar primario de hueso. Reporte de un caso y revisión de la literatura.

INTRODUCTION: Rhabdomyosarcoma (RMS) is a malignant solid tumor of mesenchymal origin. It is the most com mon soft-tissue sarcoma in childhood and adolescence. 65% of cases are diagnosed before the age of 6. Histological subtypes include embryonal, alveolar, pleomorphic, and fused-cell RMS. The embryo nal subtype is more frequent in children, while the alveolar one is more frequent in adolescents and adults. OBJECTIVE: To describe the clinical presentation of primary alveolar rhabdomyosarcoma in a schoolgirl. CLINICAL CASE: 7-year-old schoolgirl with one-month history of progressive pain in her left thigh. X-ray shows a lytic lesion in the left femur diaphysis. A study was performed with 2 biopsies, immunohistochemistry, and PAX-FOXO1 studies which were compatible with alveolar RMS. Con clusion: Primary alveolar rhabdomyosarcoma of the bone is rare, but it should be considered within the differential diagnosis of primary small-round-blue cell bone tumors. Despite presenting a poor prognosis cytogenetic, this type of tumor seems to have better biological behavior, which for a successful treatment makes necessary to have a high index of suspicion in order to install a multimodal therapy in the context of a national protocol.

Novel fusion sarcomas including targetable NTRK and ALK.

BACKGROUND: Challenging emerging entities with distinctive molecular signatures may benefit from algorithms for diagnostic work-up. METHODS: Fusion sarcomas (2020-2021, during pandemic) were diagnosed by clinicoradiology, morphology, phenotype, and next-generation sequencing (NGS). RESULTS: Six fusion sarcomas in two males and four females involved the chest-wall, neck, or extremities; ages ranged 2-73, median 18 years. Sizes ranged 5.3-25.0, median 9.1 cm. These include high grade 1) TPR-NTRK1 of proximal femur with a larger rounded soft tissue mass, previously considered osteosarcoma yet without convincing tumor matrix. A pathologic fracture necessitated emergency hemipelvectomy (NED) and 2) novel KANK1-NTRK2 sarcoma of bone and soft tissue with spindled pleomorphic to epithelioid features (AWD metastases). 3) Novel ERC1-ALK unaligned fusion, a low grade infiltrative deep soft tissue hand sarcoma with prominent-vascularity, myopericytoid/lipofibromatosis-like ovoid cells, and collagenized stroma, was successfully treated with ALK-inhibitor (Crizotinib), avoiding amputation. These NTRK and ALK tumors variably express S100 and CD34 and were negative for SOX10. 4) and 5) CIC-DUX4 round cell tumors (rapid metastases/demise), one with COVID superinfection, were previously treated as Ewing sarcoma. These demonstrated mild pleomorphism and necrosis, variable myxoid change and CD99 reactivity, and a distinctive dot-like-Golgi WT1 immunostaining pattern. 6) A chest wall/thoracic round cell sarcoma, focal CD34/ keratins/CK7, revealed nuclear-STAT6, STAT6-NAB2 by NGS, confirming malignant solitary fibrous tumor, intermediate-risk-stratification (AWD metastases). CONCLUSIONS: Recent fusion sarcomas include new KANK1-NTRK2 and ERC1-ALK, the latter successfully treated by targeted-therapy. ALK/NTRK fusion partners TPR and KANK1 suggest unusual high-grade morphology/behavior. Clinicoradiologic, morphologic, and phenotypic algorithms can prompt molecular-targeted immunostains or NGS for final classification and promising inhibitor therapy.

Very late relapse of high-grade osteosarcoma: A case report and review of the literature.

RATIONALE: Osteosarcoma is the most common primary malignant bone tumor in children. The prognosis of osteosarcoma has improved with the use of aggressive systemic chemotherapy in addition to surgery. The relapse of osteosarcomas is usually as lung metastasis observed within 2 to 3 years after the initial treatment. A relapse is rarely observed at >10 years. PATIENT CONCERNS: We report the case of a 51-year-old Japanese man who was treated for high-grade osteosarcoma of the femur at 13 years old. He was referred to our hospital with a suspicion of primary lung cancer based on back pain, respiratory distress, and an abnormal mass on chest radiograph. DIAGNOSES: Computed tomography-guided biopsy confirmed the lung lesion as a metastatic recurrence of high-grade osteosarcoma without local recurrence. INTERVENTIONS: Chemotherapy was planned, but the patient's general condition rapidly deteriorated and thus palliative therapy was provided. OUTCOMES: The patient died 2 months after the initial consultation. LESSONS: The survival durations of osteosarcoma patients have been prolonged by recent progress in multimodality therapy, and thus clinicians as well as osteosarcoma patients should always keep in mind the possibility of very late relapse.

Parosteal Osteosarcoma: A Benign-Looking Tumour, Amenable to a Variety of Surgical Reconstruction.

Osteosarcoma arising from cortical surface is classified into parosteal, periosteal and high-grade surface osteosarcoma. Along the spectrum, parosteal osteosarcoma occupies the well-differentiated end. It is a relatively rare disease entity, comprised only 4% of all osteosarcomas and barely reported in the literature. The objective of this study is to describe cases of parosteal osteosarcoma as well as a variety of treatment options amenable to such entity. Six cases of parosteal osteosarcoma were identified based on histopathological reports in a tertiary referral hospital in Jakarta, Indonesia between January 2001 and December 2019. The mean age was 29.8 years old; four of them (66.7%) were male. Distal end of femur was the most commonly involved bone (five cases, 83.3%). The patients were treated with wide excision followed by several different reconstruction methods: replacement with endoprosthesis, extracorporeal irradiation, knee arthrodesis, or prophylactic fixation. One of our patients presented with dedifferentiated component, and therefore was treated by limb ablation. While two cases died of pulmonary metastasis, other patients reported fair to excellent functional outcome.

Chondroblastoma of the Distal Femur in an Adolescent.

An 11-year-old female was referred to physical therapy due to a 3-month history of right medial knee pain. The patient's medical diagnosis was Osgood-Schlatter disease, based on radiographs obtained at the initial pediatrician consultation. An MRI scan was obtained 2 weeks after starting physical therapy and revealed a bony lesion near the medial condyle of the right femur and damage to medial joint structures. Pathology after open biopsy and curettage of the lesion revealed a chondroblastoma. J Orthop Sports Phys Ther 2020;50(5):275. doi:10.2519/jospt.2020.9021.

Positive HLA-B27 and sacroiliitis is not always spondyloarthritis.

A 36-year-old man was treated for several years with multiple agents for ankylosing spondylitis based on positive human leukocyte antigen-B27 and sacroiliitis. He was also diagnosed with osteoporosis and hypophosphatemia. Over these years, from being an avid runner, he became dependent on a walker for ambulation. The lack of treatment response and the low phosphorus were clues that eventually led to a diagnosis of tumor-induced osteomalacia. This case discusses the importance of not solely relying on genetic markers and sacroiliitis for diagnosing ankylosing spondylitis as other conditions can cause similar presentations.

Clinical and dynamometric results of hip abductor system repair by trochanteric hydroxyapatite plate with modular implant after resection of proximal femoral tumors.

INTRODUCTION: The capacity of the hydroxyapatite-coated trochanteric screwed plates used with modular hip implants to restore abductor system efficacy after proximal femoral tumor resection has never been assessed. We therefore conducted a retrospective study aiming to: (1) quantitatively evaluate abduction conservation on dynamometry according to use of digastric reinsertion, conserving continuity between the gluteus medius and vastus lateralis muscles, or not, and of standard versus small-offset; (2) assess radiographic trochanteric plate fixation; (3) assess functional scores; and (4) assess complications. HYPOTHESIS: Trochanteric reinsertion better conserves abduction strength when reinsertion is digastric. PATIENTS AND METHODS: Thirty-one patients undergoing proximal femoral tumor resection between 2006 and 2016 with reconstruction by Stanmore METS™ modular implant with trochanteric plate were included. Twenty-one had digastric fixation between the gluteus medius and vastus lateralis and 10 had simple trochanteric fixation without digastric continuity. Abduction strength was compared between sides on dynamometer. Sixteen patients had full assessment of muscle strength, by a single observer; there were 8 deaths, 5 patients lost to follow-up, and 2 cases of material removal. RESULTS: Abduction strength conservation versus the contralateral side was 55.2±23.3% (range, 5.8-86.1%): 66.6±13.0% (46.4-86.1) with versus 36.0±24.7% (5.8-63.2%) without digastric continuity (p=0.01); severe limp rate was 4/21 when digastric continuity was preserved (19%) versus 6/10 (60%) (p=0.04), and radiologic trochanteric reinsertion stability rate was 19/21 (90%) versus 4/10 (40%) (p=0.005). Standard femoral offset conserved greater abduction strength: 64.9±20.0% versus small-offset 45.4±23.2% (p=0.05). Toronto Extremity Salvage Score (TESS) was 89±9.4%, and Musculoskeletal Tumor Society (MSTS) score 75.4±5.4%. There were 6 complications (19%): 4 infections, 1 dislocation, and 1 plate removal; the single dislocation (3%) was in the digastric conservation group. TESS (90.7±7.8% vs 88.3±4) and MSTS score (75.6±4.0% vs 75.1±3.7) and complications [4/21 (19%) vs 2/10 (20%)] did not differ according to digastric or non-digastric reinsertion (p=1). CONCLUSIONS: Abduction strength with a modular implant using a hydroxyapatite-coated trochanteric plate was better conserved by digastric trochanteric reinsertion, resulting in less limping, although the complications rate and functional scores were unaffected. Longer term assessment is needed to confirm this conservation of abduction strength. LEVEL OF EVIDENCE: IV, retrospective study without control group.

Reconstruction with biological methods following intercalary excision of femoral diaphyseal tumors.

AIM: The aim of this study was to assess outcomes of biological (nonvascularized fibula grafts and extracorporeal irradiated autologous bone grafts) methods used for reconstruction of intercalary defects after resection of femoral diaphyseal tumors. MATERIALS AND METHODS: This study included 28 patients who had undergone intercalary resection in femoral diaphyseal tumors between 2011 and 2016. The mean follow-up period was 24 months (range 12-57 months). RESULTS: The mean union time for diaphyseo-diaphyseal union was 10.5 and 11 months in nonvascularized fibula group and extracorporeal radiotherapy (ECRT) group, respectively. The mean union time for metaphyseo-diaphyseal union was 6.5 months in both nonvascularized fibula and ECRT groups. Six patients had distant metastasis, and one patient had local recurrence. The mean Musculoskeletal Tumor Society score was 28 at the last follow-up. Two patients had surgical site infection in the nonvascularized fibula group. Implant failure was found in one patient of the ECRT group requiring revision surgery. Three patients had nonunion (two from the nonvascularized fibula group and one from the ECRT group). CONCLUSION: The present study indicates that the biological reconstruction modalities provide good functional outcomes in diaphyseal tumors of femur. Nonvasularized fibula and ECRT-treated autografts reconstruction provides good results, and union timing is comparable. The outcomes of the current study are promising as compared to the results in the reviewed literature. The reconstruction method depends on the resources available at the oncological center and the conversance with the method of the treating surgeon.

Giant periosteal aggressive epithelioid osteoblastoma: 21-year-old male presents case in the midshaft of his femur.

We report a rare case of giant periosteal osteoblastoma in the femur of a 21-year-old male. The patient presented with a painful, firm, non-tender mass in his left thigh. The pain was worse at night and was temporarily relieved with NSAIDS. He had no fevers, night sweats, or weight loss. The patient underwent preoperative radiological studies including plain radiographs, MRI, bone scan, and CT scan. An open biopsy was subsequently performed that was consistent with an aggressive, epithelioid osteoblastoma. Pathology demonstrated a neoplasm characterized by cohesive sheets of epithelioid osteoblasts, mixed with areas of conventional osteoblastoma displaying prominent osteoblastic rimming of woven bone trabeculae in a fibrovascular stroma. The patient subsequently underwent resection, cryosurgery, fixation, and bone grafting with cortical strut allografts. At final follow-up, 32 months postoperatively, there was no evidence of local recurrence. The patient had resumed all his normal activities. He could run without pain and had no restrictions with activities. The goal of this case report is to aid professionals in the diagnosis and treatment of highly uncommon aggressive osteoblastomas.

Bone lymphoma with multiple negative bone biopsies.

This article describes a 71-year-old man with right knee pain, prerenal azotemia, hypercalcemia, and a mass in the distal femur. Although testing, including bone marrow biopsy, initially ruled out myeloma, an open surgical biopsy eventually confirmed the diagnosis as lymphoma involving the bone with classic histologic findings of mature B-cell neoplasm of germinal cell origin.

Proximal femoral osteosarcoma: Diagnostic challenges translate into delayed and inappropriate management.

BACKGROUND: The proximal femuris is an uncommon site of osteosarcoma. The unusual manifestations at this site may lead to diagnostic and therapeutic mistakes. We therefore performed a retrospective study to estimate the proportions of patients with imaging study findings and/or clinical manifestations typical for osteosarcoma and/or inappropriate treatment decisions. HYPOTHESIS: Proximal femoral osteosarcoma often produces atypical clinical and radiological presentations. MATERIAL AND METHODS: Consecutive patients who underwent surgery at our center to treat proximal femoral osteosarcoma were included. For each patient, we collected the epidemiological characteristics, clinical symptoms, imaging study findings, treatment, and tumor outcome. Proportions were computed with their confidence intervals. RESULTS: Twelve patients had surgery for proximal femoral osteosarcoma between 1986 and 2015. Imaging findings were typical in 1 (8%) patient; they consisted of ill-defined osteolysis in 11/12 (92%) patients, a periosteal reaction in 1/12 (8%) patient, soft tissue involvement in 7/12 (58%) patients, and immature osteoid matrix in 11/12 (92%) patients. No patient had the typical combination of pain with a soft tissue swelling. Management was inappropriate in 2/12 (17%) patients, who did not undergo all the recommended imaging studies before surgery and were treated in another center before the correct diagnosis was established. At last follow-up, 4 patients had died (after a mean of 7 years) and 8 were alive (after a mean of 4 years). CONCLUSION: Proximal femoral osteosarcoma is uncommon and rarely produces the typical clinical and imaging study findings. The atypical presentation often results in diagnostic errors and inappropriate treatments. Ill-defined osteolysis on standard radiographs should prompt computed tomography or magnetic resonance imaging of the proximal femur. Treatment in a specialized center is imperative. LEVEL OF EVIDENCE: IV, retrospective study.

Distal femoral replacement with the MML system: a single center experience with an average follow-up of 86 months.

BACKGROUND: The aim of this study was to compare the functional outcomes and complication rates after distal femoral replacement (DFR) performed with the modular Munich-Luebeck (MML) modular prosthesis (ESKA/Orthodynamics, Luebeck, Germany) in patients being treated for malignant disease or failed total knee arthroplasty. METHODS: A retrospective review of patient charts and a functional investigation (involving Musculoskeletal Tumor Society Score [MSTS], American Knee Society Score [AKSS], Oxford Knee Score [OKS], Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC], Toronto Extremity Salvage Score [TESS], the 12-Item Short-Form [SF-12] Health Survey, and a failure classification system developed by Henderson et al.) of DFR cases from 2002 to 2015 were conducted. The indications for DFR were malignant tumor resection in the femur (n = 20, group A) or failure of revision total knee arthroplasty without a history of malignant disease (n = 16, group B). RESULTS: One-hundred and twenty-nine patients were treated during the study period. Of these, 82 were analyzed for complications and implant-survival. Further, 36 patients were available for functional assessment after a mean follow-up of 86 months (range: 24-154). There were 75 complications in total. The overall failure rate for DFR was 64.6% (53/82 patients). The most common failure mechanisms were type III (mechanical failure), followed by type I (soft tissue) and type II (aseptic loosening). The mean MSTS score (out of 30) was 17 for group A and 12 for group B. All the clinical outcome scores revealed an age-dependent deterioration of function. CONCLUSION: DFR is an established procedure to restore distal femoral integrity. However, complication rates are high. Post-procedure functionality depends mainly on the patient's age at initial reconstruction.

Intra-articular osteoid osteoma as a differential diagnosis of diffuse mono-articular joint pain.

BACKGROUND: The aim of this retrospective study was to investigate the frequency of intra-articular osteoid osteoma (iaOO) in a large study cohort and to demonstrate its clinical relevance as an important differential diagnosis of non-specific mono-articular joint pain. METHODS: We searched the registry for bone tumours of the University Medical Centre Hamburg-Eppendorf for osteoid osteomas in the last 42 years. Herein, we present three selected iaOO which were detected in the three major weight-bearing joints. Computed tomography (CT) or magnetic resonance imaging (MRI) scans were performed for initial diagnosis. RESULTS: Out of a total of 367 osteoid osteomas, 19 (5.2 %) tumours were localized intra-articularly. In all three presented tumours, a history of severe mono-articular pain was reported; however, the mean time to correct diagnosis was delayed to 20.7 months. Clearly, the nidus seen in CT and MRI images in combination with inconsistent salicylate-responsive nocturnal pain led to the diagnosis of iaOO. CONCLUSIONS: Rarely, osteoid osteoma can occur in an intra-articular location. In cases of diffuse mono-articular pain, iaOO should be considered both in large and smaller joints to avoid delays in diagnosis and therapy of this benign bone tumour.

The surgical management and treatment of metastatic lesions in the proximal femur: A mini review.

Review current treatments of metastatic lesions in the proximal femur.We reviewed published literature related to diagnosis and surgical treatments and summarized current treatment options.Surgical management mainly consist of internal fixation, hip replacement, and percutaneous femoroplasty (PFP) which has been newly applied in clinical practice.An appropriate series of treatments is necessary for patients to avoid the occurrence of paraplegia and prolong survival time.