Takehiko Yamaguchi

MRI and histological evaluation of the infiltrative growth pattern of myxofibrosarcoma.

ObjectiveMyxofibrosarcoma often shows abnormal signal infiltration along the fascial plane on magnetic resonance imaging (MRI). The objective was to describe this MRI characteristic of myxofibrosarcoma with pathologic findings for comparison.Materials and methodsClinical, histological, and imaging data for 21 patients with myxofibrosarcoma were reviewed retrospectively.ResultsSeventeen tumors showed a diffuse infiltrative pattern on MRI. All tumors with diffuse infiltrative growth pattern showed borderless extension of atypical cells with moderate nuclear atypia to the muscle fascia. Notably, the remaining four patients with focal growth pattern on MRI also demonstrated infiltrative growth pattern histologically suggesting that myxofibrosarcoma shows an infiltrative growth property even in the lack of infiltrative growth pattern on MRI.ConclusionMost myxofibrosarcoma show an infiltrative growth pattern histologically. Orthopedic oncologist should pay careful attention to accurately assess tumor extension. It seems prudent to resect the entire area of abnormal signal extension seen on MRI whenever possible to obtain an adequate surgical margin of myxofibrosarcoma.

Carbon Ion Radiation Therapy for Unresectable Sacral Chordoma: An Analysis of 188 Cases

PURPOSE To evaluate the results of carbon ion radiation therapy administered to 188 patients with unresectable primary sacral chordomas. PATIENTS AND METHODS One hundred eighty-eight patients were treated with carbon ion radiation therapy at a single institute between 1996 and 2013 and retrospectively analyzed. The median age was 66 years. The highest proximal invasion reached past S2 level in 137 patients. The median clinical target volume was 345 cm(3). One hundred six patients received 67.2 gray equivalents (GyE)/16 fractions (fr), 74 patients received 70.4 GyE/16 fr, 7 patients received 73.6 GyE/16 fr, and 1 patient received 64.0 GyE/16 fr. RESULTS The median follow-up period was 62 months (range, 6.8-147.5 months). Seventy percent of patients were followed for 5 years or until death. The 5-year local control, overall survival, and disease-free survival rates were 77.2%, 81.1%, and 50.3%, respectively. Forty-one patients had a local recurrence. Sex, tumor volume, level of proximal invasion, and irradiated dose were unrelated to local control. There was grade 3 toxicity of the peripheral nerves in 6 patients and grade 4 toxicity of the skin in 2 patients. Ambulation remained in 97% of patients. CONCLUSIONS Carbon ion radiation therapy was safe and effective for unresectable chordoma and provided good local control and survival while preserving ambulation.

Angiomatoid fibrous histiocytoma including cases with pleomorphic features analysed by fluorescence in situ hybridisation

Background Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue tumour of uncertain differentiation and low metastatic potential. Cytogenetics and/or molecular genetics have revealed that most have a rearrangement of the EWSR1 gene, whereas a FUS gene rearrangement is present in a minority of cases. Although some cases of AFH display striking pleomorphism and mitotic activity, there are no known clinical, morphological or genetic factors that predict metastasis. The authors present clinicopathological features of AFH, including cases showing a pleomorphic histological appearance, and results of fluorescence in situ hybridisation analysis of EWSR1 and FUS rearrangements. Methods Tumour samples from 10 patients were subjected to clinicopathological and immunohistochemical analysis and dual-colour fluorescence in situ hybridisation for EWSR1 and FUS with split-signal probes. Results All cases showed clinical features (sites: extremities followed by trunk; age: adolescent to young adult), morphology (multinodular proliferation of spindle cells, lymphoid cuffs and pseudovascular spaces) and immunohistochemical results (more than half were positive for CD68, CD99, desmin and epithelial membrane antigen) typical of AFH. There were two local recurrences in each of two patients. Two patients developed distant metastases and died from the disease; tumours of these two patients showed focal proliferation of large pleomorphic cells with hyperchromatic nuclei and high proliferative activity (>10/10 high-power field and Ki-67 labelling index >10%). There were no clinical, histological or immunohistochemical differences between the nine cases with EWSR1 rearrangement and one case with FUS rearrangement. Conclusions Wide surgical excision and careful follow-up are necessary for patients with AFH in view of its risk of local recurrence and metastasis leading to a fatal outcome.

Complete segmental resection of the spine, including the spinal cord, for telangiectatic osteosarcoma : a report of 2 cases

Study Design. Two case reports of telangiectatic osteosarcoma treated with complete segmental resection of the spine, including the spinal cord. Objectives. To report the en bloc tumor excision, including the spinal cord, for telangiectatic osteosarcoma, and discuss the indication of cord transection and influence after cutting the spinal cord. Summary of Background Data. To our knowledge, there are no previous reports describing telangiectatic osteosarcoma of the spine and the subsequent en bloc excision of the spine, including the spinal cord. Methods. The clinical and radiographic presentations of 2 cases with telangiectatic osteosarcoma are presented. Because these 2 cases already had complete paralysis for at least 1 month, it was suspected that there was no possibility of recovering spinal cord function. Complete segmental spinal resection (total en bloc spondylectomy) was performed. At that level, the spinal cord was also cut and resected. Results. En bloc excision of the tumor with a wide margin was achieved in both cases. In the resected specimen, the nerve cells in the spinal cord had lapsed into degenerative necrosis. The pathologic findings showed that there was no hope for recovery of spinal cord function. Conclusion. En bloc spinal resection, including the spinal cord, is an operation allowed when there is no hope for recovery of spinal cord function. This surgery should be accepted as an option in spine tumor surgeries.

Advantage of FISH analysis using FKHR probes for an adjunct to diagnosis of rhabdomyosarcomas

Translocations can be detected using fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded tissues. Recently, a commercially available FKHR (13q14) dual-color, break-apart rearrangement probe has been developed. However, the advantages of using this probe have not been reported. This study demonstrated the usefulness of this probe for the clinical diagnosis of rhabdomyosarcomas (RMS). We studied 33 RMS (19 embryonal rhabdomyosarcomas [ERMS], including three sclerosing-type RMS, and 14 alveloar rhabdomyosarcomas [ARMS]). Fluorescence signals were detected for 18 of the 19 (94.7%) ERMS and 13 of the 14 (92.8%) ARMS. A split-signal pattern was detected in 12 of 13 (92.3%) ARMS but was not detected in any of the ERMS, including the three sclerosing-type RMS. Amplification and polyploidy were present in both the ERMS and the ARMS. Our FISH study highlighted the excellent performance of the presently reported commercial break-apart probe for the detection of FKHR gene rearrangements in RMS. Because amplification and polyploidy were detected in both the ERMS and the ARMS, sufficient care should be taken when counting the nuclear signals. No rearrangements of the FKHR gene were found in any of the three sclerosing-type RMS when examined using a FISH assay, supporting the hypothesis that sclerosing RMS can be included as an ERMS.

Utility of immunohistochemical analysis for cyclo-oxygenase 2 in the differential diagnosis of osteoblastoma and osteosarcoma

Aims: To study the immunoexpression of cyclo-oxygenase (COX) 2 in osteoblastomas (OBs) and osteosarcomas (OSs), and to assess the utility of immunohistochemical analysis for COX 2 in the differential diagnosis of the two tumour forms. Methods: The immunohistochemical features of COX 2 were studied in 11 OBs and 30 OSs, including 26 high-grade OSs (16 osteoblastic, 7 chondroblastic, and 3 fibroblastic) and 4 low-grade OSs. Results: Tumour cells from all 11 OBs unequivocally showed diffuse, intense and cytoplasmic immunoreactivity for COX 2. Strong cytoplasmic expression of COX 2 was observed in 5 of 26 (19%) high-grade OSs, all chondroblastic. In one osteoblastic-type OS, COX 2 was expressed in the chondroblastic component, but this tumour was considered to be COX 2 negative. No COX 2 expression was noted in atypical osteoblastic cells. Staining in the four low-grade OSs was negative. Conclusion: The results of immunohistochemical analysis of COX 2 suggest that in addition to the routine histopathological evaluation, COX 2 is a valuable diagnostic marker in the distinction between OB and OS.

Pre-operative Selective Arterial Embolization as a Neoadjuvant Therapy for Proximal Humerus Giant Cell Tumor of Bone: Radiological and Histological Evaluation

The management of giant cell tumor of the proximal humerus that extends to the joint is challenging. Here, we report a case of proximal humerus giant cell tumor with cortical bone destruction extending to the shoulder joint. Pre-operative selective arterial embolization induced peripheral tumor ossification. Subsequently, the lesion was removed by intralesional curettage, and the cavity was filled with cement. Macroscopically, the inner wall of the cavity was found to be lined with a thick fibrous membrane. Histologically, massive fibrosis and resultant remodeling of the destroyed cortical bone were induced, which was consistent with the peripheral ossification on the plain radiograph. We believe that selective arterial embolization can be an effective neoadjuvant therapy for giant cell tumors of the extremities, especially for tumors with large cortical defects or joint involvement.

Multiple metastases from histologically benign intraarticular diffuse-type tenosynovial giant cell tumor: a case report

Diffuse-type tenosynovial giant cell tumor (D-TGCT) is a relatively rare mesenchymal tumor. It is a locally aggressive but virtually nonmetastasizing neoplasm and thus regarded as benign. Only a few D-TGCTs with benign histology have been reported to metastasize. We report an extremely rare case of benign D-TGCT in which multiple metastases developed 9 years after surgery for the primary tumor. The present case suggests that conventional D-TGCT has the potential to form distant metastases, albeit exceptionally rarely, and that this probable implantation phenomenon can be managed conservatively.

Pregnancy complicated with Alport syndrome : A good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence staining

Alport syndrome is a familial progressive nephritis. The most frequent type is X‐linked Alport syndrome, caused by genetic abnormalities in the alpha 5 chain of type IV collagen. Skin biopsy is a useful tool for diagnosing this disease. It is not well known how this syndrome affects pregnancy and how it is affected by pregnancy, or whether the umbilical cord may provide material for detecting this collagen abnormality. We report a primigravida with Alport syndrome with mild proteinuria who gave birth abdominally to a term male infant without deteriorating renal function during pregnancy. The umbilical cord from not only this infant but also from an Alport (‐) control infant showed negative immunofluorescence staining for the alpha 5 chain of type IV collagen. Women with Alport syndrome without renal dysfunction may follow an uneventful obstetrical course until term. The cord may not be suitable for diagnosing Alport syndrome with immunofluorescence staining.

Dedifferentiated liposarcoma of the retroperitoneum with osteosarcomatous component: report of two cases

We describe two cases of ossified soft tissue tumors of the retroperitoneum. Computed tomographic and magnetic resonance imaging both revealed retroperitoneal masses consisting of two components -- densely ossified and lipid-rich components. In one case, a 50-year-old man, a histological diagnosis of dedifferentiated liposarcoma with osteosarcoma was made based on the needle biopsy of the two components. In another case, a 54-year-old man, surgical resection of the complex perirenal mass was performed and the same diagnosis was made. Although an ossified component represent high-grade lesion, the fatty component is an important clue to the diagnosis of dedifferentiated liposarcoma. The imaging features may be similar to those of malignant mesenchymoma, which is not a currently used term.