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Introduction BCOR-CCNB3 sarcoma (BCS) is one of the histological types classified as undifferentiated small round cell sarcoma of bone and soft tissue. This sarcoma frequently develops in males under 20 years of age. Histologically, it has been reported that a delicate capillary network is a conspicuous finding. In this study, the cytological findings of BCS were observed in 2 cases of primary lesions and 1 case of a lung metastatic lesion. The cytological findings of BCS were compared with its histological mimics, and the characteristic findings of BCS were examined. Methods Three cases of BCS were studied, and a cytological comparison was performed with 8 cases of Ewing sarcoma (ES) and 10 cases of synovial sarcoma (SS) (monophasic type SS: 7 cases, biphasic type SS: 2 cases, poorly differentiated SS: 1 case). Results In all BCS cases, small clusters with thin and delicate vascular cores and tiny vascular fragments were conspicuous. In ES and SS cases, although small clusters with vascular cores were observed, the vascular cores were thicker than in BCS, and no tiny vascular fragments appeared in most cases. Cytomorphological differences of tumor cells were also observed among BCS, ES, and SS. Predominantly rounded nuclei with fine chromatin and inconspicuous nucleoli can be cytological clues for BCS. Conclusions BCS shows characteristic cytological findings that make the diagnosis of BCS more likely than that of ES and SS. Cytological evaluation is a useful tool for appropriate differential diagnosis that leads to a more accurate final diagnosis and rapid treatment.

Purpose The role of chemotherapy (CT) and radiotherapy (RT) for management of extraskeletal osteosarcoma (ESOS) remains controversial. We examined disease outcomes for ESOS patients and investigated the association between CT/RT with recurrence and survival. Patients and methods Retrospective review at 25 international sarcoma centers identified patients ≥18 years old treated for ESOS from 1971 to 2016. Patient/tumour characteristics, treatment, local/systemic recurrence, and survival data were collected. Kaplan–Meier survival and Cox proportional-hazards regression and cumulative incidence competing risks analysis were performed. Results 370 patients with localized ESOS treated definitively with surgery presented with mainly deep tumours (n = 294, 80%). 122 patients underwent surgical resection alone, 96 (26%) also received CT, 70 (19%) RT and 82 (22%) both adjuvants. Five-year survival for patients with localized ESOS was 56% (95% CI 51%–62%). Almost half of patients (n = 173, 47%) developed recurrence: local 9% (35/370), distant 28% (102/370) or both 10% (36/370). Considering death as a competing event, there was no significant difference in cumulative incidence of local or systemic recurrence between patients who received CT, RT, both or neither (local p = 0.50, systemic p = 0.69). Multiple regression Cox analysis showed a significant association between RT and decreased local recurrence (HR 0.46 [95% CI 0.26–0.80], p = 0.01). Conclusion Although the use of RT significantly decreased local recurrences, CT did not decrease the risk of systemic recurrence, and neither CT, nor RT nor both were associated with improved survival in patients with localized ESOS. Our results do not support the use of CT; however, adjuvant RT demonstrates benefit in patients with locally resectable ESOS.

BackgroundProsthetic reconstruction for distal femoral osteosarcoma is challenging for younger children. We herein report a successful case of limb-sparing surgery for a younger patient with distal femoral osteosarcoma requiring osteo-articular resection.Case presentationA 5-year-old girl with high-grade conventional osteosarcoma in the left distal femur underwent a series of surgeries. After three cycles of neoadjuvant chemotherapy, limb-salvage surgery was planned because femoral rotationplasty had been refused. At 6 years and 2 months old, distal femoral resection and temporary spacer insertion using a 7-mm-diameter intramedullary nail and molded polymethylmethacrylate was performed. At 7 years and 8 months old, secondary surgery was performed because the first spacer had been dislocated and the residual femur became atrophic. The distal end of the residual femur was removed by 1 cm, but the periosteum and induced membrane around polymethylmethacrylate was preserved. In order to stabilize the spacer against the tibia, a custom-made ceramic spacer with a smooth straight 8-mm-diameter stem was utilized. The bone-spacer junction was fixed with polymethylmethacrylate and then covered with the preserved periosteum and induced membrane. After surgery, the bone atrophy improved. At 9 years and 7 months old, the second spacer was removed because it had loosened, and the knee joint was reconstructed using a custom-made growing femoral prosthesis with a curved porous 8.5-mm-diameter stem. Cancellous bone tips from the proximal tibia were grafted around the bone-prosthesis junction underneath the induced membrane. At 10 years and 5 months old, the patient was able to walk unsupported and a radiograph showed further thickening of the cortex of the residual femur without any stress shielding. Although having 5 cm of limb length discrepancy, the patient and her mother were satisfied with the function. The MSTS score was 24 out of 30 points. Repeated limb length extensions are planned.ConclusionsThis case report provides an example of limb-salvage surgery after distal femoral resection in a small child. The use of a temporary spacer utilizing partial cementation and preservation of the periosteum and induced membrane appears to afford a viable limb-salvage option after distal femoral resection for younger children.

Background It is unclear whether antecedent primary malignancies (APMs) have any negative impact on the prognosis of soft tissue sarcoma (STS). We retrospectively reviewed STS patients with APMs (STS-APM) and compared their survival to those of STS only (STS-O). Methods Twenty-one cases of STS-APM from 2008 to 2017 in our institution were analyzed. One hundred and seventy cases of STS-O at the same period were compared as a control group. Overall survival was estimated using Kaplan-Meier survival curves and prognostic factors were analyzed using logistic regression analyses and contingency table analyses. Results As the final status of STS-APM patients, 12 patients were in disease-free survival, 5 were alive with disease, 3 have died of disease, and 1 has died of another disease. There was no case that died of APM. The 5-year overall survival rates were 88% in STS-APM and 78% in STS-O, showing no statistical significant ( p = 0.65). The 5-year overall survival rates in each stage of STS-APM and STS-O were 100/100% in stage I, 100/85% in stage II, 86/72% in stage III, and the 3-year overall survival rates were 67/51% in stage IV, with no statistical significance. With regard to prognostic factor, histological grade of STS was the only significant factor. Although antecedent radiotherapy tended to show a high odds ratio, the association was not statistically significant. Antecedent chemotherapy did not show any estimated prognostic risk. Conclusions Our study suggested that APM in STS patient would not be a negative prognostic factor.

Malignant granular cell tumors (MGCTs) are extremely rare neoplasms with only a limited number of studies published to date. The aim of this study is to elucidate the clinicopathological characteristics and prognostic factors of MGCTs. This is a multi-institutional retrospective study of MGCTs with a central pathological review. A total of 18 cases were retrieved. Specimens were blindly reviewed by two pathologists based on the diagnostic criteria by Fanburg-Smith et al. Kaplan–Meier survival probabilities were calculated, and risk factors for poor prognosis were evaluated. Three and fifteen cases were diagnosed as atypical GCTs (AGCTs) and mGCTs according to the Fanburg-Smith et al. classification, respectively. Four (one atypical and three malignant) cases had metastasis at the first presentation, including lymph node metastasis. Three out of ten cases treated with wide resection developed local recurrence. Although prolonged static disease periods of ≥1 year were observed in four cases receiving chemotherapy, all cases with local recurrence or metastasis, including two atypical cases, eventually died of disease. The 5- and 10-year overall survival rates for localized MGCTs were 69.2 and 34.6 %, respectively. The presence of necrosis was revealed as a risk factor associated with adverse clinical outcomes. MGCTs have high rates of recurrence and metastasis including lymph node metastasis. As histologically atypical cases also have metastatic potential, close attention should be paid to AGCTs. The combination of histological evaluation and tumor size may lead to more accurate diagnosis of this rare neoplasm.

Purpose: Giant cell tumor of bone (GCTB) is a local aggressive bone tumor, histologically classified as intermediate malignancy. Recently, the RANKL inhibitor, denosumab, was developed as a novel and effective treatment option for GCTB. Since the risk of preoperative use of denosumab with curettage had been previously reported, this study aimed to investigate the relationship between recurrences and clinicopathological features associated with adjuvant denosumab treatment in GCTB. Methods: A total of 87 GCTB cases were treated at our institution. We reviewed 66 patients with conventional-type GCTB occurring in the extremities and analyzed 78 surgical treatments, including curettages and resections, with clinicopathological features and denosumab treatment. Results: GCTB lesions, including 66 primary and 12 recurring, underwent surgical treatment like curettage and resection. Recurrence-free survivals in 78 GCTB surgeries were 78.7% in 3 years and 71.9% in 5 years. In the resected cases of GCTBs, there was no recurrence either with or without denosumab. In curettage cases, 3-year recurrence-free survivals were 0.0% ( n = 3) in preoperative treatment of denosumab, 66.7% ( n = 6) in postoperative treatment, and 76.6% ( n = 43) in no treatment. Interestingly, three preoperative treatment cases demonstrated low MIB-1 index despite 100% recurrence. The other clinicopathological factors did not contribute much to the risk of recurrence in curettage cases. Conclusion: Our findings revealed the use of denosumab in GCTB, prior to curettage, to possibly increase the risk of local recurrence. Together with previous reports, our finding might provide information for beneficial treatment of GCTB.

Background and purpose Giant cell tumor of bone (GCT) is sometimes difficult to distinguish from other giant-cell-rich tumors such as chondroblastoma (CHB) and aneurysmal bone cyst (ABC). The usefulness of p63 as a diagnostic marker for GCT is controversial. While there have been no reports about p63 as a prognostic marker for local recurrence, various p63-positive rates in GCT have been reported. The purpose of this study was to investigate retrospectively whether p63 is useful as a diagnostic marker and/or a prognostic marker for local recurrence of GCT. Methods This study included 36 patients diagnosed with either GCT (n = 16), CHB (n = 9), ABC (n = 7), or non-ossifying fibroma (NOF) (n = 4). p63 immunostaining was performed for all specimens. The mean p63-positive rate was compared with the four diseases and between the recurrent and non-recurrent cases of GCT. Results Although the mean p63-positive rate for GCT (36.3%) was statistically higher than that of all other diseases examined (CHB: 15.2%; ABC: 5.8%; NOF: 3.4%), p63 was not specific for GCT. The mean p63-positive rate for recurrent GCT cases (73.6%) was statistically higher than that for non-recurrent cases (29.1%). Conclusion In the diagnosis of GCT, p63 is a useful but not a conclusive marker. However, p63 did appear to indicate the biological aggressiveness of GCT. Therefore, p63 may help surgeons to estimate the risk of recurrence after surgery and help them to choose the best treatment for each GCT case.

A 19-year-old woman was admitted to the hospital with a complaint of right wrist pain. A plain radiograph showed an osteolytic lesion in the right distal radius. Surgical treatment with curettage and bone grafting was performed under the clinical diagnosis of a giant-cell tumor. However, local recurrence was noticed 6 months after the treatment, and the curettage and bone graft were performed again. The histology of the recurrent lesion revealed a malignant giant-cell tumor that was entirely composed of highly atypical stromal cells and tumor giant cells. After a retrospective review of the primary lesion, it was found to also contain a small focus of pleomorphic cells within the conventional giant-cell tumor. Immunohistochemical and genetic analysis revealed p53 overexpression in the tumor giant cells and loss of heterozygosity of p53 gene only in the recurrent tumor; thus, a diagnosis of secondary malignant giant-cell tumor was finally made. The patient underwent systemic chemotherapy along with curettage and cryosurgery using liquid nitrogen. It is now 1 year and 4 months after the last treatment, and the patient is well and alive with no evidence of the disease. Identification of p53 genetic alteration may help in diagnosing malignant giant-cell tumor.

We report a rare case of late recurrence of a giant cell tumour (GCT) of bone 16 years after curettage and cryosurgery treatment. A 46-year-old man presented with swelling and progressively worsening pain in the lateral aspect of his right distal femur. He had undergone 4 procedures elsewhere to manage a GCT of bone and its recurrence 16 to 23 years previously. He underwent en bloc resection with an adequate wide margin and reconstruction with prosthesis. At the one-year follow-up, there was no evidence of recurrence or metastasis.

The clinical features of extraskeletal osteosarcoma are not well known. Unlike osteosarcoma of the bone, the efficacy of chemotherapy for extraskeletal osteosarcoma has not been established yet.A multiinstitutional study of extraskeletal osteosarcoma was conducted.A total of 20 patients were enrolled in the study from the Japanese Musculoskeletal Oncology Group institutions. Their ages ranged from 15 to 88 years (mean 50 years). Six lesions were located in the thigh, four in the chest, four in the buttocks, three in the upper arm, and others. UICC surgical stages were II in 5 patients, III in 13, and IV in 2. Surgical resection was performed in 19 patients, and the consequent surgical margin was wide in 15 patients, marginal in 3, and intralesional in 1. The overall 5-year survival rate was 66%. Three patients demonstrated tumor recurrence postoperatively, and the 5-year local control survival rate was 75%. Altogether, 15 patients received chemotherapy, of whom 11 had evaluable responses as follows: complete response in none, partial response in 5 patients, and no change or progressive disease in 6 patients, with a response rate of 45%.Among the patients with extraskeletal osteosarcoma, both the 5-year survival rate and the chemotherapy response rate tended to improve in this study in comparison to the findings published in previous reports. As a result, we believe that treatment regimens that include systemic chemotherapy may be able to improve the prognosis in patients with extraskeletal osteosarcoma.

Giant cell tumor of bone (GCTB) is a benign tumor with a tendency for local recurrence. Secondary malignant GCTB is rare, occurring in less than 2 % of GCTB cases. Mechanisms of malignant transformation of GCTB remain unclear. We examined 43 cases of GCTB (38 conventional cases, two lung implantation cases, and three secondary malignant cases) for p53 gene mutations and for loss of heterozygosity (LOH) of p53 when corresponding normal tissue was available. In addition, to elucidate the possible involvement of p53, GPX-1, cyclinD1, and Ki-67 in malignant transformation of GCTB, we assessed the expression of these proteins by immunohistochemistry. Mutations or LOH of p53 were found in all three malignant cases, which also showed p53 overexpression. Non-synonymous p53 mutations were detected in seven of 38 conventional cases (18 %), although none of these showed p53 overexpression, defined as more than 10 % of cells being positive. LOH at the p53 locus was detected in eight of 37 informative cases, although this was not associated with p53 overexpression in conventional GCT. Expression of GPX-1 was higher in the recurrent group, which included metastatic and malignant cases, and patients with high GPX-1 expression were at greater risk for early relapse. We also observed a positive correlation between high p53 expression and high GPX-1 expression in GCTB. Given that GPX-1 is shown to be a target of p53, these results suggest that p53 mutations play a role in tumor recurrence and malignant transformation of GCTB through interactions with GPX-1.

We describe a new technique of pedicle freezing of the distal radius with malignant bone tumour and osteotomy of the normal ulna. The distal radius was sufficiently elevated to enable freezing without damaging adjacent tissues by releasing the distal radio-ulnar and radio-carpal joint and cutting the middle third of the ulna. The distal radius (including the tumour) was soaked in liquid nitrogen and the defect filled with iliac grafts. The ulna was repaired with plate and screws and was united at month 2. There was no local recurrence and the postoperative function score was 93%. This technique decreases the risk of non-union of the osteotomy site of the tumorous bone.

Purpose. To compare survival rates in the elderly with bone versus soft-tissue sarcomas. Methods. Records of 12 men and 8 women aged 70 to 91 (mean, 77) years with bone or soft-tissue sarcomas were retrospectively reviewed. The grade, size, location, and stage of the sarcomas, as well as their surgical margins, treatment modalities, local recurrence, metastasis, and prognosis were recorded. The mean follow-up period was 37 (range, 2–137) months. Their 5-year survival rates were estimated using the Kaplan-Meier method, and compared with 110 younger controls aged 9 to 69 (mean, 45) years during the same period. There was no significant difference between the older patients and younger controls regarding tumour grading (p=0.068, Chi squared test), stage, and pathological diagnosis. Results. Six patients had bone and 14 had soft-tissue sarcomas. Of the 6 bone sarcomas, 3 were malignant fibrous histiocytomas, 2 were osteosarcomas, and one was a chordoma; all were high grade, except for the chordoma. Of the 14 soft-tissue sarcomas, 9 were malignant fibrous histiocytomas, 3 were myxofibrosarcomas, one was a liposarcoma and one an extraskeletal osteosarcoma; all were high grade except for 2 of the myxofibrosarcomas and the liposarcoma. Of the 110 younger controls, 30 had bone and 80 had soft-tissue sarcomas; 44 were low grade and 66 were high grade. The 5-year survival rate was significantly lower in older patients than in younger controls (35% vs 65%, p=0.048). Regarding bone versus soft-tissue sarcomas, the 5-year survival rate was not significantly different among older patients (0% vs 52%, p=0.068) or younger controls (61% vs 66%, p=0.863). The difference was also not significant for older patients versus younger controls with bone sarcomas (0% vs 61%, p=0.284) or soft-tissue sarcomas (52% vs 66%, p=0.368), for older patients with high- versus low-grade sarcomas (17% vs 100%, p=0.314), for older patients with sarcomas located in the limbs versus the trunk (39% vs 38%, p=0.233), as well as for older patients versus younger controls with low-grade sarcomas (100% vs 92%, p=0.512) or high-grade sarcomas (17% vs 46%, p=0.269). Conclusion. Survival rates tend to be lower in older patients with sarcomas, especially when the sarcoma is of bone and high grade.

A 46-year-old man was admitted to the hospital with a recurrent giant-cell tumor of the distal femur. This was his fourth recurrence, and it had occurred 16 years after his last treatment. The resected recurrent tumor was histologically determined to be a conventional giant-cell tumor. However, a single lung metastatic lesion and local recurrence were noticed 6 months after the resection, both of which were surgically excised. The lung lesion was histologically determined to be an implantation of giant-cell tumor, whereas the local recurrent lesion contained a clearly separated fibrosarcomatous area within the conventional giant-cell tumor. Immunohistochemistry showed diffuse and strong p53 expression in the fibrosarcomatous area. Direct sequencing revealed a p53 mutation in the sarcomatous area and a recessive mutant signal in the conventional area. The lung lesion also contained the same p53 mutation. Identification of the p53 mutation may help in diagnosing potential malignant transformation of giant-cell tumor.

Lipoprotein lipase (LPL) deficiency is an extremely rare congenital metabolic disorder with an accumulation of chylomicrons in the blood. We encountered a patient with an LPL deficiency leading to multiple bone xanthomas associated with hyperlipidemia. Radiographs and MRI of the humerus and femur revealed symmetrical bone lesions, and there is a possibility that these symmetrical lesions may therefore be a characteristic feature for this disorder.

Primary liposarcoma of bone is exceedingly rare. We report a case of primary pleomorphic liposarcoma in the humerus of a 38-year-old female. Radiographs demonstrated an expansile and osteolytic lesion extending from the head to the proximal part of the shaft in the right humerus. MR study showed a defined lesion in the humerus. The lesion had an iso-signal intensity and partial high-intensity lesion on T1-weighted images and a heterogeneous high signal intensity on T2-weighted images. Wide resection and proximal humeral endoprosthesis replacement were performed. Final pathological diagnosis of the lesion was pleomorphic liposarcoma. This is the second reported case of pleomorphic liposarcoma of the bone, and the first case presenting MRI findings for liposarcoma of bone.