This paper reported a case of cervical intraspinal metastasis of alveolar rhabdomyosarcoma (ARMS). The clinicopathological features, surgical treatment, chemotherapy and prognosis were introduced and the current literature was reviewed. The diagnosis, differential diagnosis, treatment, molecular features and prognosis of the disease were comprehensively analyzed to improve clinicians' knowledge of this rare disease. The primary lesion appeared about 1 year ago which was painless mass of left hand whose size was about 2 cm×2 cm. After conservative treatment, the mass gradually enlarged and the mass was resected. Postoperative pathology revealed embryonic rhabdomyosarcoma. Postoperative chemotherapy with recombinant human endostatin, liposomal doxorubicin and ifosfamide was performed. The left neck mass was found about 3 months ago, and then the left neck mass was resected under general anesthesia. Postoperative pathological examination showed small round cell malignant tumors. Severe left upper extremity pain began about 2 weeks ago with nocturnal pain and supine pain. Non-steroidal anti-inflammatory drugs were needed to relieve pain which was accompanied by numbness and weakness of the left upper extremity. MRI showed a intraspinal tumor at C5. The left thumb and index finger were absent. Hypoesthesia, muscle atrophy and hypotonia of the left upper limb were confirmed. The muscle strength of biceps brachii and deltoid muscle of the left upper limb was grade 0, the muscle strength of extensor carpus and interphalangeal muscle was grade II, the muscle strength of intrinsic muscles of hands was grade I. The tendon reflex of the left upper limb disappeared. Intraspinal mass was removed and the pain was relieved. But there was no significant change in the muscle strength of the left upper limb. Pathological examination revealed small cell malignancies which were poorly differentiated with diffuse patchy distribution and disordered arrangement. The tumor cells had round, oval or irregular nuclei, and few cytoplasms were positive for Myogenin and MyoD1. FISH test of FOXO1 gene was positive. More than 50% of nuclei showed redgreen signal separation, and the distance between redgreen signals was larger than double diameter of the signal points, which supported ARMS. Total resection of intraspinal tumors was achieved and postoperative chemotherapy was admitted. But intraspinal disseminated metastasis occurred rapidly. ARMS was rare, aggressive tumor with poor prognosis. Subdural metastasis was rare. Correct diagnosis and classification can be made only with help of modern molecular diagnostic methods, which is effective to guide the treatment.
Humans ; Ifosfamide ; Muscle, Skeletal ; Myogenin ; Prognosis ; Rhabdomyosarcoma, Alveolar ; Spinal Neoplasms

OBJECTIVETo probe into the function of stem cell antigen-1 (Sca-1) in cell proliferation and differentiation.

METHODSSca-(1+) and Sca-(1-) muscle derived cells were separated from C57BU6 mice by fluorescence-activated cell sorting and then cultured in vitro. After 5 days cells proliferative curve were drawn according CCK-8 experimental results. Western blot also were done to detect Sca(-1), MyoD and Myogenin expression in cultured Sca(-1+) and Sca-(1-) muscle derived cells.

RESULTSThe difference of the proliferative curve of Sca-(1+) and Sca-(1-) muscle derived cells cultured 3 days in vitro was not apparent, but Sca-(1-) muscle derived cells had a accelerated division rate in the follow days compared to the Sca-(1+) muscle derived cells. Sca-1 expression in both cells was not obvious. MyoD and Myogenin expression were stronger in Sca-(1+) than Sca-(1-) muscle derived cells.

CONCLUSIONSca-1 expression in muscle derived cells takes a period of time that related to the beginning and ending of the cell cycle.

Animals ; Antigens, Ly ; Cell Differentiation ; Cell Proliferation ; Cells, Cultured ; Flow Cytometry ; Membrane Proteins ; Mice ; Muscle, Skeletal ; Myogenin ; Stem Cells

BACKGROUND: Breast cancer treatment with selective estrogen receptor modulators (SERMs) increases the incidence of uterine malignant mixed Müllerian tumors (uMMMTs). We examine clinicopathologic characteristics and prognosis of SERM-associated uMMMTs (S-uMMMTs) and discuss possible pathogenetic mechanisms. METHODS: Among 28,104 patients with breast cancer, clinicopathologic features and incidence of uMMMT were compared between patients who underwent SERM treatment and those who did not. Of 92 uMMMT cases that occurred during the same period, incidence, dose, and duration of SERM treatment, as well as overall survival rate, were compared for patients with breast cancer who underwent SERM treatment and those who did not (S-uMMMT vs NS-uMMMT) and for patients without breast cancer (de novo-uMMMT). Histopathological findings and immunophenotypes for myogenin, desmin, p53, WT-1, estrogen receptor (ER) α, ERβ, progesterone receptor, and GATA-3 were compared between S-uMMMT and de novo-uMMMT. RESULTS: The incidence of S-uMMMT was significantly higher than that of NS-uMMMT (6.35-fold). All patients with SERM were postmenopausal and received daily 20–40 mg SERM. Cumulative SERM dose ranged from 21.9 to 73.0 g (mean, 46.0) over 39–192 months (mean, 107). Clinicopathologic features, such as International Federation of Gynecology and Obstetrics stage and overall survival, were not significantly different between patients with S-uMMMT and NS-uMMMT or between patients with S-uMMMT and de novo-uMMMT. All 11 S-uMMMT cases available for immunostaining exhibited strong overexpression/null expression of p53 protein and significantly increased ERβ expression in carcinomatous and sarcomatous components. CONCLUSIONS: SERM therapy seemingly increases risk of S-uMMMT development; however, clinicopathologic features were similar in all uMMMTs from different backgrounds. p53 mutation and increased ERβ expression might be involved in the etiology of S-uMMMT.
Breast Neoplasms ; Breast ; Desmin ; Estrogens ; Gynecology ; Humans ; Incidence ; Myogenin ; Obstetrics ; Prognosis ; Receptors, Progesterone ; Selective Estrogen Receptor Modulators ; Survival Rate ; Tamoxifen

OBJECTIVE: Granulocyte-macrophage colony-stimulating factor (GM-CSF) facilitates mammalian embryonic development and implantation. However, its biological function after implantation is not elucidated. The aim of this study is to assess the changes of gene expression by GM-CSF in human trophoblast obtained in early pregnancy. METHODS: Human trophoblast obtained in early pregnancy was cultured with or without GM-CSF. The difference of gene expression was evaluated with microarray and selected genes were reevaluated with real-time reverse transcription-polymerase chain reaction (RT-PCR). RESULTS: Microarray analysis revealed that the expressions of 468 genes were increased while those of 40 genes were decreased by GM-CSF. These genes were evaluated according to the known biologic pathways. The regulation of actin cytoskeleton and focal adhesion pathways were mostly influenced by GM-CSF. Annexin A2, thymosin-like 3, vimentin, myogenin, ACK1, and tensin1 genes were selected for real-time RT-PCR. The increased expressions of of vimentin and ACK1, and decreased expressions of tensin1 were confirmed by real-time RT-PCR. CONCLUSION: GM-CSF activates focal adhesion pathway in human trophoblast by increasing the expression of vimentin and ACK1, and decreasing the expression of tensin1.
Actin Cytoskeleton ; Annexin A2 ; Embryonic Development ; Female ; Focal Adhesions ; Gene Expression ; Granulocyte-Macrophage Colony-Stimulating Factor ; Humans ; Microarray Analysis ; Myogenin ; Pregnancy ; Trophoblasts ; Vimentin

BACKGROUND: We analyzed whether thyroid stimulating hormone receptor (TSH-R) is expressed in a skeletal muscle cell line and if TSH has influence on the differentiation of muscle cells or on the determination of muscle fiber types. METHODS: TSH-R gene expression was detected with nested real-time polymerase chain reaction (RT-PCR) in C2C12, a mouse skeletal muscle cell line. The effect of TSH on myotube differentiation was assessed by microscopic examination of myotube formation and through the measurement of expression of muscle differentiation markers, i.e., myogenin and myoD, and muscle type-specific genes, i.e., MyHC1, MyHC2a, and MyHC2b, with quantitative RT-PCR before and after incubation of C2C12 myotube with TSH. RESULTS: TSH-R was expressed in the mouse skeletal muscle cell line. However, treatment with TSH had little effect on the differentiation of muscle cells, although the expression of the muscle differention marker myogenin was significantly increased after TSH treatment. Treatment of TSH did not affect the expression of muscle type-specific genes. CONCLUSION: TSH-R is expressed in a mouse skeletal muscle cell line, but the role of TSH receptor signaling in skeletal muscle needs further investigation.
Animals ; Antigens, Differentiation ; Cell Line ; Gene Expression ; Mice ; Muscle Cells ; Muscle Fibers, Skeletal ; Muscle, Skeletal ; Muscles ; Myogenin ; Real-Time Polymerase Chain Reaction ; Receptors, Thyrotropin ; Thyroid Gland ; Thyrotropin

PURPOSE: This study was designed to investigate the feasibility of a hydroxyapatite/chitosan (HAp/chitosan) composite, seeded with autologous muscle-derived stem cells, as a partial bladder substitute in rats. MATERIALS AND METHODS: Muscle-derived stem cells were isolated from the gastrocnemius muscle of 6 female Sprague-Dawley rats, using the preplate technique, and cultured on HAp/chitosan composite sheets. Sheets with 10mm diameters were implanted into the urinary bladder of rats following a hemicystectomy in an autologous fashion. Three rats were sacrificed 4 and 8 weeks postoperatively, and the morphological changes subsequently assessed by H&E and immunofluorescence staining using DAPI, myogenin and alpha-smooth muscle actin (SMA). RESULTS: All rats survived the scheduled duration. Adequate epithelialization was observed to be completed after postoperative week 4. Abundant muscle bundles, showing positive alpha-SMA staining, were observed after the 4th week. The bladder shape was well preserved after the 8th week. Ingrowing smooth muscles were observed on the periphery of the composite and muscular bundles, with positive myogenin immunostaining in the middle of the composite. CONCLUSIONS: A HAp/chitosan composite sheet, seeded with autologous muscle-derived stem cells, showed a degree of skeletal muscle differentiation 8 weeks after augmentation cystoplasty, in an autologous fashion. This new material seeded with muscle-derived stem cells may, in the future, prove to be a viable option as a partial bladder substitute.
Actins ; Animals ; Atrophy ; Female ; Fluorescent Antibody Technique ; Humans ; Muscle, Skeletal ; Muscle, Smooth ; Myogenin ; Rats ; Rats, Sprague-Dawley ; Regeneration ; Stem Cells* ; Urinary Bladder

Dedifferentiated chondrosarcoma is an uncommon bone tumor, defined as a tumor in which two components -a low-grade chondrosarcoma and a high-grade non-cartilaginous sarcoma-coexist with abrupt interface. We report a rare case of giant-cell rich dedifferentiated chondrosarcoma occurred in the right distal femur shaft of a 60 year-old female. The plain X-ray film showed an irregular radiolucent mass. The T2-weighted MRI revealed a heterogeneous high signal intensity. It was an irregular mass composed of bluish-white, translucent chondroid elements and yellowish solid components with extraosseous invasion. Microscopically, a low-grade chondrosarcoma and a giant-cell rich spindle cell sarcoma with areas resembling giant cell tumor were recognized with abrupt transition. Immunohistochemical staining revealed a S100 protein positivity in chondroid cells and a few spindle cells. CD68 was strongly positive in giant cells. Vimentin was positive in both components and smooth muscle actin was positive in some spindle cells. There was no cytokeratin, desmin and myogenin immunopositivity. It is important to be aware of this rare variant of dedifferentiated chondrosarcoma to avoid the misdiagnosis of more common bone tumors including giant cell tumors.
Actins ; Chondrosarcoma* ; Desmin ; Diagnostic Errors ; Female ; Femur ; Giant Cell Tumors* ; Giant Cells* ; Humans ; Immunohistochemistry ; Keratins ; Magnetic Resonance Imaging ; Middle Aged ; Muscle, Smooth ; Myogenin ; Sarcoma ; Vimentin ; X-Ray Film

The effects of unilateral sciatic neurectomy on gastrocnemius muscle were studied in adult male rats. The morphological changes of both gastrocnemius muscles were observed by light and electron microscopy. Western blot analysis was performed to study the protein expression. Following the denervation, the affected muscle weights decreased significantly than normal. And the denervation led to a significant reduction in the area and diameter of muscle fibers on light microscopy. The affected muscle fibers showed the decreasing in size and the irregularity of myofibrilar arrangement on electron microscopy. On transverse view, the area of affected muscle fibers were smaller than normal. Their myofibrils were smaller and very irregular in size. The thin and thick myofilaments were not regular and partially lost. Mitochondria between myofibrils and subsarcolemmal area in affected muscle fibers were damaged and partially lost. The sacoplasmic reticulum and T-tubules were mostly lost and irregular. Some satellite cells were observed adjacent the muscle fiber, but they were inactive morphologically. On longitudinal view, most of myofibrils in affected muscle fibers were lost generally or partially although the their most sarcomeres were regularly arranged. Z line and myofilaments were lost partially and were partially irregularly arranged. The loss of thin myofilaments was more than that of thick myofilaments. Much debris of cell organelles were scattered among myofibrils. The expression of MyoD and myogenin were decrease significantly and the expression of p-mTOR and p-FOXO1 were decreased, too. On the other hand, MuRF1 was increased significantly. Taken together, the main effect of gastrocnemius muscle by sciatic neurectomy is the atrophy as a result of the loss of myofilaments and cell organelles through the decrease of protein synthesis and the increase of protein degradation.
Adult ; Animals ; Atrophy ; Blotting, Western ; Denervation ; Hand ; Humans ; Light ; Male ; Microscopy ; Microscopy, Electron ; Mitochondria ; Muscle, Skeletal ; Muscles ; Myofibrils ; Myogenin ; Organelles ; Proteolysis ; Rats ; Reticulum ; Sarcomeres ; Sciatic Nerve ; Weights and Measures

OBJECTIVETo study the clinicopathological and immunohistochemical features, histogenesis and prognosis of pleuropulmonary blastoma (PPB) in children.

METHODSPPB specimens from 16 pediatric cases with an age ranging from 1 year and 7 months to 5 years and 3 months (mean age of 3 years) were retrieved and analyzed by routine histological, immunohistochemical and electron methods.

RESULTSAmong 16 patients, there were 2 type I, 7 type II and 7 type III PPB cases. Type I PPB as multilocular cystic structure, consisted of thin fibrous wall lining the respiratory epithelium, subepithelial primitive blastema or immature mesenchymal cells, with or without rhabdomyoblastic differentiation or cartilage; Type II PPB as cystic-solid tumor, comparing with type I, consisted of intracystic components with appearance of anaplastic tumor cells. Type III PPB consisted of completely solid mass, the same as the solid region of type II, had mixed pattern including blastema, undifferentiated spindle-cell proliferations and sarcomas. In addition, anaplastic tumor cells and intra-and extra- cytoplasmic eosinophilic globules were also commonly present. Epithelial components in PPB were benign. Immunohistochemical study showed primitive mesenchymal differentiation of tumors. All cases were positive for vimentin, desmin, myogenin and SMA in tumors with skeletal muscle differentiation, S-100 was positive in tumors with cartilage differentiation. All tumors were negative for synaptophysin, CD99, and CD117. Benign epithelial components were positive for AE1/AE3 and EMA. In 12 cases, electron microscopy revealed few organelles in the primitive mesenchymal cells and rich heterochromatin in mesenchymal cells, the latter also demonstrating cytoplasmic myofilament dysplasia. Nine cases had clinical follow-up ranging from 5 to 48 months, of which 4 patients died.

CONCLUSIONSPPB is a rare lung neoplasm of children under the age of 6 years, with distinct pathological morphology. PPB may arise from lung or pleura mesenchymal cells and has a poor clinical outcome.

Child, Preschool ; Cysts ; pathology ; Desmin ; analysis ; Female ; Humans ; Infant ; Lung Neoplasms ; chemistry ; pathology ; Male ; Microscopy, Electron ; Myogenin ; analysis ; Prognosis ; Pulmonary Blastoma ; chemistry ; pathology ; Sarcoma ; pathology ; Vimentin ; analysis

Calbindin 2 ; metabolism ; Heart Neoplasms ; metabolism ; pathology ; surgery ; Humans ; Male ; Middle Aged ; MyoD Protein ; metabolism ; Myogenin ; metabolism ; Rhabdomyosarcoma, Embryonal ; metabolism ; pathology ; surgery