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1.  Giant Invasive Sacral Schwannoma Showing Chromosomal Numerical Aberrations [-14,+18,+22] 
Asian Spine Journal  2013;7(3):227-231.
Here, we report on a rare case of a giant invasive sacral schwannoma. The patient was a 58-year-old woman who had a 6-year history of non-specific buttock pain. Histological investigation confirmed the diagnosis of cellular schwannoma. The following numerical aberration was detected using the GTG-banding method for karyotypes: 47,XX,-14,+18,+22. Cytogenetic studies of schwannomas have indicated a complete or partial loss of chromosome 22 as the most common abnormality, but this case is cytogenetically rare because of the recurrence of trisomy 22.
doi:10.4184/asj.2013.7.3.227
PMCID: PMC3779776  PMID: 24066220
Sacrum; Neurilemmoma; Cytogenetics
2.  Extracapsular wide resection of a femoral neck osteosarcoma and its reconstruction using a pasteurized autograft-prosthesis composite: A case report 
Oncology Letters  2013;6(4):1147-1151.
The requirement for an extracapsular resection is indicated for malignant bone tumors that have disseminated intracapsularly. Extracapsular resections are often performed for malignant tumors arising from the knee joint, but there are relatively few studies that have described an extracapsular resection of a tumor arising from the hip joint. The present study describes a case of extracapsular wide resection of the hip joint using rotational acetabular osteotomy. The patient was a 17-year-old female and the diagnosis was an osteoblastic osteosarcoma with a pathological fracture of the femoral neck. The joint was reconstructed using an allograft-implant composite graft and total hip arthroplasty. Although the patient presented a slight Trendelenburg gait, no recurrence or metastases were identified during a follow-up period of 3 years. The clinical features and surgical procedure of the case are described.
doi:10.3892/ol.2013.1503
PMCID: PMC3796432  PMID: 24137479
extracapsular resection; total hip arthroplasty; osteosarcoma
3.  Cutaneous angiosarcoma of the buttock complicated by severe thrombocytopenia: A case report 
Molecular and Clinical Oncology  2013;1(5):903-907.
Angiosarcoma (AS) is an aggressive, malignant endothelial cell tumor of vascular or lymphatic origin, the presentation and clinical behavior of which may vary according to its location. This is the case report of a 56-year-old woman with cutaneous angiosarcoma (CAS) of the buttock complicated by severe thrombocytopenia. A review of the literature revealed that only nine cases of CAS with thrombocytopenia have been previously reported. The prognosis of CAS complicated by thrombocytopenia is poor, even after treatment with combined chemotherapy and radiotherapy (RT). The composite karyotype was 46,XX,t(12;20)(p13;p11.2)[3]/47,X,add(X)(q13),del(6)(q?),add(12)(p13),−21,+2mar[2]/45,XX,der(1)add(1)(p36.3)del(1)(q41),−20[1]/46,XX[13]. Only 13 cytogenetic cases of AS, including the present case, have been reported in the English literature thus far. In this case report, the clinical presentation and cytogenetic findings are described and the relevant literature on AS is reviewed.
doi:10.3892/mco.2013.141
PMCID: PMC3915322  PMID: 24649268
cutaneous angiosarcoma; thrombocytopenia; karyotype
4.  Long-term outcome of idiopathic hypertrophic thoracic pachymeningitis 
European Spine Journal  2011;21(Suppl 4):404-407.
Idiopathic hypertrophic spinal pachymeningitis (IHSP) is a comparatively rare disease characterized by hypertrophic inflammation of the dura mater and clinical symptoms that progress from local pain to myelopathy. We report a case of IHSP followed up for 20 years in a 46-year-old man. Expansive laminoplasty was performed in 1991, and this case has been previously reported by a co-author. After 17 years, the patient’s gait disturbance returned. Physical examination and imaging confirmed IHSP that had developed into syringomyelia at the T2–L1 conus level. This case was diagnosed as adhesive spinal arachnoiditis due to pachymeningitis caused by syringomyelia. T1–T4 laminectomy, a syringo-subarachnoid shunt (S–S shunt), and L2–L3 laminectomy were performed. The patient again developed dysesthesia and gait disturbance 3 years after the second operation. Most reports of IHSP have limited their focus to short-term follow-up after initial treatment with no long-term results. At present, there are only five reports referring to long-term results of greater than 5 years. All but one case needed additional surgery. To the best of our knowledge, this is the first case in which syringomyelia occurred in a patient with IHSP. It is important to note that syringomyelia may be a cause of symptom recrudescence during long-term follow-up in IHSP patients.
doi:10.1007/s00586-011-1848-9
PMCID: PMC3369029  PMID: 21594749
Hypertrophic pachymeningitis; Long-term outcome; Syringomyelia; Thoracic spine
5.  Array-based comparative genomic hybridization for genomic-wide screening of DNA copy number alterations in aggressive bone tumors 
Background
The genetic pathways of aggressive changes of bone tumors are still poorly understood. It is very important to analyze DNA copy number alterations (DCNAs), to identify the molecular events in the step of progression to the aggressive change of bone tissue.
Methods
Genome-wide array-based comparative genomic hybridization (array CGH) was used to investigate DCNAs of 14 samples from 13 aggressive bone tumors, such as giant cell tumors (GCTs) and osteosarcoma (OS), etc.
Results
Primary aggressive bone tumors had copy number gains of 17.8±12.7% in the genome, and losses of 17.3±11.4% in 287 target clones (threshold for each DCNA: ≦085, 1.15≦). Genetic unstable cases, which were defined by the total DCNAs aberration ≧30%, were identified in 9 of 13 patients (3 of 7 GCTs and all malignant tumors). High-level amplification of TGFβ2, CCND3, WI-6509, SHGC-5557, TCL1A, CREBBP, HIC1, THRA, AFM217YD10, LAMA3, RUNX1 and D22S543, were commonly observed in aggressive bone tumors. On the other hand, NRAS, D2S447, RAF1, ROBO1, MYB, MOS, FGFR2, HRAS, D13S319, D13S327, D18S552, YES1 and DCC, were commonly low. We compared genetic instability between a primary OS and its metastatic site in Case #13. Metastatic lesion showed increased 9 DCNAs of remarkable change (m/p ratio ≧1.3 folds), compared to a primary lesion. D1S214, D1S1635, EXT1, AFM137XA11, 8 M16/SP6, CCND2, IGH, 282 M15/SP6, HIC1 and LAMA3, were overexpressed. We gave attention to HIC1 (17p13.3), which was common high amplification in this series.
Conclusion
Our results may provide several entry points for the identification of candidate genes associated with aggressive change of bone tumors. Especially, the locus 17p11-13 including HIC1 close to p53 was common high amplification in this series and review of the literature.
doi:10.1186/1756-9966-31-100
PMCID: PMC3576288  PMID: 23199169
Osteosarcoma; Giant cell tumor; Bone tumors; Microarray; Comparative genomic hybridization
6.  Minimum 10-Year Follow-up Study of Anterior Lumbar Interbody Fusion for Degenerative Spondylolisthesis: Progressive Pattern of the Adjacent Disc Degeneration 
Asian Spine Journal  2012;6(2):105-114.
Study Design
Retrospective study.
Purpose
The aims of the current study are to evaluate the minimum 10-year follow-up clinical results of anterior lumbar interbody fusion (ALIF) for degenerative spondylolisthesis.
Overview of Literature
ALIF has been widely used as a treatment regimen in the management of lumbar spondylolisthesis. Still much controversy exists regarding the factors that affect the postoperative clinical outcomes.
Methods
The author performed a retrospective review of 20 patients with degenerative spondylolisthesis treated with ALIF (follow-up, 16.4 years). The clinical results were assessed by the Japanese Orthopaedic Association (JOA) score for low back pain, vertebral slip and disc height index on the radiographs.
Results
The mean preoperative JOA score was 7.1 ± 1.8 points (15-point-method). At 1 year, 5 years, and 10 years or more after surgery, the JOA scores were assessed as 12.4 ± 2.2 points, 12.7 ± 2.6 points, 12.0 ± 2.5 points, respectively (excluding the data of reoperated cases). The adjacent disc degeneration developed in all cases during the long-term follow-up. The progressive pattern of disc degeneration was divided into three types. Initially, disc degeneration occurred due to disc space narrowing. After that, the intervertebral discs showed segmental instability with translation at the upper level. But the lower discs showed osteophyte formation, and occasionally lead to the collapse or spontaneous union.
Conclusions
The clinical results of the long-term follow-up data after ALIF became worse due to the adjacent disc degeneration. The progressive pattern of disc degeneration was different according to the adjacent levels.
doi:10.4184/asj.2012.6.2.105
PMCID: PMC3372545  PMID: 22708014
Spondylolisthesis; Lumbar regions; Intervertebral disc disease
7.  Myxoid Liposarcoma-Associated EWSR1-DDIT3 Selectively Represses Osteoblastic and Chondrocytic Transcription in Multipotent Mesenchymal Cells 
PLoS ONE  2012;7(5):e36682.
Background
Liposarcomas are the most common class of soft tissue sarcomas, and myxoid liposarcoma is the second most common liposarcoma. EWSR1-DDIT3 is a chimeric fusion protein generated by the myxoid liposarcoma-specific chromosomal translocation t(12;22)(q13;q12). Current studies indicate that multipotent mesenchymal cells are the origin of sarcomas. The mechanism whereby EWSR1-DDIT3 contributes to the phenotypic selection of target cells during oncogenic transformation remains to be elucidated.
Methodology/Principal Findings
Reporter assays showed that the EWSR1-DDIT3 myxoid liposarcoma fusion protein, but not its wild-type counterparts EWSR1 and DDIT3, selectively repressed the transcriptional activity of cell lineage-specific marker genes in multipotent mesenchymal C3H10T1/2 cells. Specifically, the osteoblastic marker Opn promoter and chondrocytic marker Col11a2 promoter were repressed, while the adipocytic marker Ppar-γ2 promoter was not affected. Mutation analyses, transient ChIP assays, and treatment of cells with trichostatin A (a potent inhibitor of histone deacetylases) or 5-Aza-2′-deoxycytidine (a methylation-resistant cytosine homolog) revealed the possible molecular mechanisms underlying the above-mentioned selective transcriptional repression. The first is a genetic action of the EWSR1-DDIT3 fusion protein, which results in binding to the functional C/EBP site within Opn and Col11a2 promoters through interaction of its DNA-binding domain and subsequent interference with endogenous C/EBPβ function. Another possible mechanism is an epigenetic action of EWSR1-DDIT3, which enhances histone deacetylation, DNA methylation, and histone H3K9 trimethylation at the transcriptional repression site. We hypothesize that EWSR1-DDIT3-mediated transcriptional regulation may modulate the target cell lineage through target gene-specific genetic and epigenetic conversions.
Conclusions/Significance
This study elucidates the molecular mechanisms underlying EWSR1-DDIT3 fusion protein-mediated phenotypic selection of putative target multipotent mesenchymal cells during myxoid liposarcoma development. A better understanding of this process is fundamental to the elucidation of possible direct lineage reprogramming in oncogenic sarcoma transformation mediated by fusion proteins.
doi:10.1371/journal.pone.0036682
PMCID: PMC3343026  PMID: 22570737
8.  CD99-positive soft tissue sarcoma with chromosomal translocation between 1 and 16 and inversion of chromosome 5 
Oncology Letters  2012;3(6):1213-1215.
In this study, we report the cytogenetic analysis of a 31-year-old male with a rare translocation between chromosomes 1 and 16 and inversion of chromosome 5 in CD99-positive soft tissue sarcoma of the thigh, which metastasized to the lung. Histologically, the tumor showed ovoid or short-spindle atypical cells with positivities of CD99, vimentin and bcl-2. Cytogenetically, all 20 analyzed cells showed the clonal aberrations add(1)(q23), t(1;16)(p21;p11.2), inv(5)(q11.2;q15). This finding adds to the new karyotype spectrum of CD99-positive soft tissue sarcomas.
doi:10.3892/ol.2012.641
PMCID: PMC3392573  PMID: 22783420
CD99; karyotype; chromosome; sarcoma
9.  Skeletal metastasis of carcinoid tumors: Two case reports and review of the literature 
Oncology Letters  2012;3(5):1105-1108.
Carcinoid tumors are neuroendocrine neoplasms derived from enterochromaffin cells. Skeletal metastases from carcinoid tumors are considered to be extremely rare. In this study, we present two cases of carcinoid tumors that metastasized to the bone. Furthermore, we review 50 published case reports and reveal the features of skeletal metastasis of carcinoid tumors. The first case involved a 59-year-old man with a history of multiple metastases of a lung carcinoid tumor. The patient complained of back pain and numbness in the lower limbs. Magnetic resonance imaging revealed metastases in the thoracic spine. A spinal decompression was performed and the symptoms were resolved. The second case involved a 74-year-old man had been diagnosed with a lung carcinoid tumor 15 years previously and complained of left thigh pain. A radiograph showed osteolytic lesions in the shaft of the left femur. We repaired the femur using an intramedullary nail following curettage of the tumor. A radiograph of the femur revealed a callus on the pathological fracture. The patient was able to walk using a crutch 3 months after surgery. We reviewed 50 cases that described skeletal metastasis from carcinoid tumors. The average age of the patients was 54.9 years and 33 patients (66%) were male. The most common site of skeletal metastasis was the spine. We also investigated the survival rate of patients who developed skeletal metastasis from carcinoid tumors. The findings showed that survival of patients who developed osteolytic skeletal metastasis was worse than that of patients who developed osteosclerotic skeletal metastasis.
doi:10.3892/ol.2012.622
PMCID: PMC3389625  PMID: 22783400
carcinoid tumor; skeletal metastasis; prognosis
10.  Extraskeletal myxoid chondrosarcoma of the thigh with a t(9;17) translocation 
Oncology Letters  2011;3(3):621-624.
Extraskeletal myxoid chondrosarcomas (EMC) are relatively rare. We report a case of EMC of the thigh. A 41-year-old man presented with a tumor history of more than 4 months. Following open biopsy, wide resection of the tumor was performed. Histopathologically, the tumor had a multinodular architecture consisting of myxomatous areas demarcated by fibrous septa. Proliferation of uniform, round tumor cells with oval nuclei was observed. Well-formed hyaline cartilage and rhabdoid-like cells were not visible. Immunohistochemically, the tumor cells were positive for vimentin and S-100. The composite karyotype was 46,XY,t(9;17)(q22;q11),t(9;21)(q21;p13), and the diagnosis of EMC was made. No recurrence of the mass or metastasis was observed during a follow-up period of 4 years and 7 months. Only 50 cytogenetic cases of EMC, including our case, have been reported in the English literature thus far. Clinical presentation, radiological features and histopathological and cytogenetic findings are described, and the relevant literature is reviewed.
doi:10.3892/ol.2011.526
PMCID: PMC3362353  PMID: 22740963
extraskeletal myxoid chondrosarcoma; karyotype; prognosis
11.  Establishment of a new human osteosarcoma cell line, UTOS-1: cytogenetic characterization by array comparative genomic hybridization 
The cytogenetic characteristics of osteosarcoma (OS) remain controversial. The establishment of a new human OS cell line may improve the characterization. We report the establishment of a new human osteosarcoma cell line, UTOS-1, from a typical osteoblastic OS of an 18-year-old man. Cultured UTOS-1 cells are spindle-shaped, and have been maintained in vitro for over 50 passages in more than 2 years. Xenografted UTOS-1 cells exhibit features typical of OS, such as production of osteoid or immature bone matrix, and proliferation potency in vivo. UTOS-1 also exhibit morphological and immunohistochemical characteristics typical of osteoblastic OS. Chromosomal analysis by G-band show 73~85 chromosomes with complicated translocations. Array CGH show frequent gains at locus DAB2 at chromosome 5q13, CCND2 at 12p13, MDM2 at 12q14.3-q15, FLI and TOP3A at 17p11.2-p12 and OCRL1 at Xq25, and show frequent losses at HTR1B at 6q13, D6S268 at 6q16.3-q21, SHGC17327 at 18ptel, and STK6 at 20q13.2-q13.3. The UTOS-1 cell line may prove useful for biologic and molecular pathogenetic investigations of human OS.
doi:10.1186/1756-9966-28-26
PMCID: PMC2660296  PMID: 19239720
12.  Postmarketing surveillance of rabeprazole in upper gastrointestinal peptic lesions in Japanese patients with coexisting hepatic disorders 
Background:
Many Japanese patients with hepatic disorders confirmed on diagnostic imaging and coexisting upper gastrointestinal (GI) peptic lesions receive treatment with proton pump inhibitors. Some pharmacotherapies used to treat peptic ulcers have been associated with adverse drug reactions (ADRs), including elevated liver enzyme levels.
Objective:
The aim of this study was to determine the tolerability and effectiveness of rabeprazole sodium in treating peptic lesions in patients with coexisting hepatic disorders.
Methods:
This open-label, practice-based, postmarketing surveillance investigation was conducted at 15 centers across Japan. Male and female patients aged ≥18 years with peptic lesions confirmed on upper GI endoscopy and with underlying hepatic disease were enrolled. Patients were randomly assigned to receive rabeprazole 10 or 20 mg PO (tablet) QD after a meal for up to 8 weeks. Tolerability was assessed using monitoring of the incidence of ADRs determined by direct patient questioning, spontaneous reporting, and laboratory assessment. All patients who received at least 1 dose of study drug were included in the tolerability assessment. Effectiveness was assessed at baseline and study end using the rates of achievement of improvement on endoscopy, relief of subjective/objective symptoms (rates of improvement in epigastric pain and heartburn), and global improvement. The effectiveness analysis included all patients with complete data before and after treatment. Subanalyses were conducted to determine the effectiveness of drug by identification of the proportion of patients with coexisting hepatic disorders (cirrhosis, chronic hepatitis, and other hepatic diseases [eg, alcoholic hepatitis, fatty liver]) and by peptic lesion (gastric ulcer, duodenal ulcer, stomal ulcer, and reflux esophagitis) who achieved improvement.
Results:
A total of 114 patients were enrolled; 108 patients were included in the tolerability analysis (81 men, 27 women; mean age, 59.9 years; 10-mg dose, 90 patients; 20-mg dose, 18 patients) and 98 patients were included in the analysis of effectiveness. Twenty-one ADRs occurred in 11 (10.2%) patients. Serious ADRs occurred in 2 patients (elevated bilirubin level and hepatic encephalopathy, 1 patient each). Administration of rabeprazole was discontinued in 5 patients due to the occurrence of the following ADRs: constipation (1 patient); epigastric pain (1); dyslalia, disorientation, tremor, sleep disorder, and hepatic encephalopathy (1); diarrhea (1); and elevated alkaline phosphatase and y-glutamyl transpeptidase levels (1). On endoscopy, the proportion of patients achieving improvement with either dose was 30/33 (90.9%). The relief rates assessed using subjective symptoms were 47/55 (85.5%) and 47/56 (83.9%) for epigastric pain and heartburn, respectively. The proportion of patients achieving global improvement with either dose was 80/98 (81.6%) patients (49/62 [79.0%] for cirrhosis, 11/16 [68.8%] for chronic hepatitis, and 20/20 [100.0%] for other hepatic diseases [alcoholic hepatitis, fatty liver]).
Conclusion:
In this study in Japanese patients with hepatic disorders, rabeprazole was well tolerated and appeared effective for the treatment of upper GI peptic lesions.
doi:10.1016/j.curtheres.2006.02.003
PMCID: PMC3965972
rabeprazole; hepatic disorders; cirrhosis; chronic hepatitis; upper gastrointestinal lesions; gastric ulcer; duodenal ulcer; reflux esophagitis; stomal ulcer

Results 1-12 (12)