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1.  Metastasis of gastrointestinal stromal tumor to skeletal muscle: a case report 
Gastrointestinal stromal tumor is the most common malignant mesenchymal tumor of the gastrointestinal tract. The most common sites of metastasis are the liver and the peritoneum, but gastrointestinal stromal tumors rarely metastasize to the skeletal muscles. Only three cases of gastrointestinal stromal tumor metastasizing to skeletal muscle have been reported in the English literature. Here we present an additional case of skeletal muscle metastasis, and the relevant literature is reviewed.
Case presentation
A 54-year-old Japanese man presented with a three-month history of an enlarging mass of the left buttock. An excisional biopsy was performed and the tumor was diagnosed as a leiomyosarcoma. However, careful examination of the gastrointestinal tract revealed a tumor located in the small intestine. Surgical resection of the small intestine tumor was performed; histopathological and immunohistochemical examinations identified it as a primary gastrointestinal stromal tumor arising from the small intestine. Despite receiving both chemotherapy and molecular-targeted therapy, our patient died of gastrointestinal bleeding six months after the initial diagnosis.
Because it is a mesenchymal tumor, it is difficult to distinguish a gastrointestinal stromal tumor metastasis to skeletal muscle from other primary soft tissue sarcomas. Although metastasis of gastrointestinal stromal tumor to skeletal muscle is rare, the likelihood of finding metastases in these unusual sites is increasing due to prolonged survival of patients with gastrointestinal stromal tumor after the introduction of imatinib therapy. We should include metastases of gastrointestinal stromal tumors as differential diagnosis of spindle cell tumor, and it is necessary to begin appropriate treatment early.
PMCID: PMC4112972  PMID: 25037940
Gastrointestinal stromal tumor; Sarcoma; Skeletal muscle metastasis
2.  DNA copy number alterations in pleomorphic leiomyosarcoma: A case report 
Oncology Letters  2014;7(6):1847-1850.
Pleomorphic leiomyosarcoma (P-LMS) is a rare morphological variant of LMS. The current study presents the cytogenetic data of a P-LMS that arose in the axillary region of a 31-year-old male. The results of array-based comparative genomic hybridization for the primary tumor showed DNA copy number alteration (DCNA) gains of 8ptel, 17ptel and 17q11.2 and losses of 2ptel, 7ptel, 7qtel, 10p15, 12p12-13.1, 13q14.2-14.3, 15q25-26 and Yq11. However, a metastatic lesion showed cytogenetic data different from the primary tumor DCNAs, with only the locus of 17ptel (282M15/SP6) in common between them. These observations add to the spectrum of DCNAs that have been reported in previous cases of LMS and provide novel cytogenetic data.
PMCID: PMC4049769  PMID: 24932246
leiomyosarcoma; comparative genomic hybridization; DNA; chromosome
3.  An intraosseous malignant peripheral nerve sheath tumor of the lumbar spine without neurofibromatosis: Case report and review of the literature 
Oncology Letters  2014;7(6):1965-1969.
A malignant peripheral nerve sheath tumor (MPNST) is defined as any malignant tumor that develops or differentiates from cells in the peripheral nerve sheath. This tumor is commonly associated with neurofibromatosis type 1 (NF1) and previous radiotherapy treatment. Primary intraosseous MPNSTs are extremely rare and a case of the lumbar spine in a patient without NF1 is reported in the present study, with a review of the intraosseous MPNST literature. A 45-year-old female presented with a 1-month history of severe lower back pain and pain radiating to the left leg. A total en bloc spondylectomy of L4 was performed. The postoperative histopathological diagnosis was MPNST with deletion of NF1, confirmed by dual-color fluorescence in situ hybridization (FISH) analysis. The tumor recurred 1 month following the surgery. Although adjuvant chemotherapy was administered, the patient succumbed due to intramedullary dissemination and carcinomatous meningitis 8 months following the initial consultation. NF1 deletion by FISH analysis may be particularly useful in distinguishing MPNST from other high-grade malignancies with overlapping morphological features.
PMCID: PMC4049692  PMID: 24932270
intraosseous malignant peripheral nerve sheath tumor; spine; total en bloc spondylectomy
4.  Pleomorphic hyalinizing angiectatic tumor arising in the thigh: A case report 
Oncology Letters  2014;7(4):1249-1252.
Pleomorphic hyalinizing angiectatic tumors (PHATs) are rare non-metastasizing tumors of uncertain lineage. The current study presents a case of PHAT arising in the thigh of a 68-year-old female and examines the clinicopathological characteristics of the tumor. Magnetic resonance imaging (MRI) revealed an intramuscular mass located in the adductor longus. The tumor was surrounded by lipomatous tumor. Wide resectioning was performed for the internal tumor, whereas intralesional resectioning was performed for the external tumor. Histopathologically, the internal lesion was diagnosed as a PHAT and the external lesion was diagnosed as an hemosiderotic fibrolipomatous lesion (HFLL). No recurrence or metastases were identified during the 6-year follow-up period. As the adipose tissue surrounding the PHAT resembled a HFLL, therefore, the association between ‘early PHAT’ and HFLL is discussed. Although PHATs may represent low-grade sarcomas, HFLLs may be benign tumors.
PMCID: PMC3961218  PMID: 24944701
pleomorphic hyalinizing angiectatic tumor; hemosiderotic fibrohistiocytic lipomatous lesion; imaging
5.  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.
PMCID: PMC3779776  PMID: 24066220
Sacrum; Neurilemmoma; Cytogenetics
6.  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.
PMCID: PMC3796432  PMID: 24137479
extracapsular resection; total hip arthroplasty; osteosarcoma
7.  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.
PMCID: PMC3915322  PMID: 24649268
cutaneous angiosarcoma; thrombocytopenia; karyotype
8.  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.
PMCID: PMC3369029  PMID: 21594749
Hypertrophic pachymeningitis; Long-term outcome; Syringomyelia; Thoracic spine
9.  Array-based comparative genomic hybridization for genomic-wide screening of DNA copy number alterations in aggressive bone tumors 
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.
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.
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.
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.
PMCID: PMC3576288  PMID: 23199169
Osteosarcoma; Giant cell tumor; Bone tumors; Microarray; Comparative genomic hybridization
10.  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.
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.
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.
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.
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.
PMCID: PMC3372545  PMID: 22708014
Spondylolisthesis; Lumbar regions; Intervertebral disc disease
11.  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.
PMCID: PMC3392573  PMID: 22783420
CD99; karyotype; chromosome; sarcoma
12.  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.
PMCID: PMC3389625  PMID: 22783400
carcinoid tumor; skeletal metastasis; prognosis
13.  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.
PMCID: PMC3362353  PMID: 22740963
extraskeletal myxoid chondrosarcoma; karyotype; prognosis
14.  C11orf95-MKL2 is the Resulting Fusion Oncogene of t(11;16)(q13;p13) in Chondroid Lipoma 
Genes, chromosomes & cancer  2010;49(9):810-818.
Chondroid lipoma, a rare benign adipose tissue tumor, may histologically resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma, but is genetically distinct. In the current study, an identical reciprocal translocation, t(11;16)(q13;p13) was identified in three chondroid lipomas, a finding consistent with previous isolated reports. A fluorescence in situ hybridization (FISH)-based positional cloning strategy using a series of bacterial artificial chromosome (BAC) probe combinations designed to narrow the 16p13 breakpoint revealed MKL2 as the candidate gene. Subsequent 5′ RACE studies demonstrated C11orf95 as the MKL2 fusion gene partner. MKL/myocardin-like 2 (MKL2) encodes myocardin-related transcription factor B (MRTF-B) in a megakaryoblastic leukemia gene family, and C11orf95 (chromosome 11 open reading frame 95) is a hypothetical protein. Sequencing analysis of RT-PCR generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. Dual-color breakpoint spanning probe sets custom-designed for recognition of the translocation event in interphase cells confirmed the anticipated rearrangements of the C11orf95 and MKL2 loci in all cases. The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.
PMCID: PMC2904421  PMID: 20607705
15.  Postoperative Meningitis in Patients with Cervical Cord Tumor: A Case Report 
Asian Spine Journal  2010;4(2):136-140.
Postoperative meningitis after spinal surgery is a rare complication that can result in a life-threatening condition. Linezolid (LZD) is an oxazolidinone which has been approved in Japan for infections caused by methicillin-resistant Staphylococcus aureus. The authors encountered a case of postoperative meningitis with cerebrospinal fluid leakage (liquorrhoea) that occurred after resection of a cervical cord tumor. The infection was caused by methicillin-resistant Staphylococcus epidermidis(MRSE). Debridement and suture of the dura matter was carried out. LZD was given intravenously. The infection was cured without any sequelae. Based on this result, we concluded that LZD might be considered as one of the first choices for the treatment of postsurgical meningitis caused by MRSE.
PMCID: PMC2996627  PMID: 21165319
CSF leakage; Postoperative meningitis; Surgical site infection; Methicillin-resistant Staphylococcus epidermidis; Linezolid
16.  Aberrations of 6q13 Mapped to the COL12A1 Locus in Chondromyxoid Fibroma 
Chondromyxoid fibroma, a rare benign bone tumor, may be mistaken for chondrosarcoma. Although cytogenetic studies of chondromyxoid fibroma are few, rearrangements of the long arm of chromosome 6 frequently expressed as an inv(6)(p25q13) are prominent. In this study, conventional cytogenetic analysis of 16 chondromyxoid fibroma samples from 14 patients revealed rearrangements of chromosome 6 in ten of eleven clonally abnormal specimens. In addition to 6q13 rearrangements, recurrent 6p25 and 6q25 anomalies were detected. Notably, an identical t(6;9)(q25;q22) translocation was identified in two cases suggesting it represents a distinct translocation of chondromyxoid fibroma. In an effort to further define the aberrant 6q13 breakpoint and identify the molecular consequences, a fluorescence in situ hybridization (FISH)-based positional cloning strategy on chondromyxoid fibroma abnormal metaphase and interphase cells using a series of bacterial and plasmid artificial chromosome (BAC/PAC) probe combinations spanning a 6.1 Mb region was employed. The breakpoint on 6q13 was located within the COL12A1 gene, a collagen gene purportedly involved in another benign bone tumor, subungual exostosis. The findings of this study expand our knowledge of chromosomal alterations in chondromyxoid fibroma, identify COL12A1 as the likely gene candidate within the recurrent 6q13 breakpoint, and provide an alternative approach for detecting 6q13 anomalies in nondividing cells of chondromyxoid fibroma. The latter could potentially be utilized as an adjunct in diagnostically challenging cases.
PMCID: PMC2784180  PMID: 19648885
chondromyxoid fibroma; cytogenetics; fluorescence in situ hybridization; COL12A1
17.  Alveolar Rhabdomyosarcoma of the Head and Neck Region in Older Adults; Genetic Characterization and a Review of the Literature 
Human pathology  2008;40(3):341-348.
Alveolar rhabdomyosarcoma (ARMS) is remarkably rare in adults over 45 years. Initial immunoprofiling of a small cell neoplasm of the head and neck region in an older adult may not include myogenic markers. A valuable diagnostic aid and important prognostic parameter in ARMS is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements. The purpose of this study was to document the clinicopathologic, immunophenotypic, and genetic features of head/neck ARMS in older adults. Prior isolated descriptions of three patients were included. Five patients were female and two male (median age 61 years). Each neoplasm was composed of undifferentiated, small round cells in a predominantly solid pattern. Initially ordered immunostains corresponded with early diagnostic impressions of a hematologic malignancy or neuroendocrine carcinoma. CD56 was positive in 5/5 tumors and synaptophysin in 1/6. Given the virtual absence of other lymphoid or epithelial markers, muscle immunostains were performed and these were positive. Definitive ARMS diagnoses were confirmed genetically. This study illustrates the diagnosis of head/neck ARMS in older adults is complicated by its rarity, lack of an alveolar pattern, and a potentially misleading immunoprofile (CD56 and synaptophysin immunoreactivity) if myogenic markers are not employed. Both PAX3- and PAX7-FOXO1 ARMSs were identified in these patients. In children, PAX7-FOXO1 ARMS is associated with a significantly longer event-free survival. In contrast, adult ARMS behaves more aggressively with a worse overall survival than pediatric ARMS. Further follow-up and additional cases are required to assess the prognostic relevance of these fusion transcripts in the context of advanced age.
PMCID: PMC2753286  PMID: 18973919
alveolar rhabdomyosarcoma; cytogenetics; FOXO1; PAX3; PAX7; RT-PCR
18.  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.
PMCID: PMC2660296  PMID: 19239720

Results 1-18 (18)