Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “RHABDOMYOSARCOMA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,261 records · Page 70Linked to original sources
PubMed2001

Subcellular localization of the steroid receptor coactivators (SRCs) and MEF2 in muscle and rhabdomyosarcoma cells.

Skeletal muscle differentiation and the activation of muscle-specific gene expression are dependent on the concerted action of the MyoD family and the MADS protein, MEF2, which function in a cooperative manner. The steroid receptor coactivator SRC-2/GRIP-1/TIF-2, is necessary for skeletal muscle differentiation, and functions as a cofactor for the transcription factor, MEF2. SRC-2 belongs to the SRC family of transcriptional coactivators/cofactors that also includes SRC-1 and SRC-3/RAC-3/ACTR/AIB-1. In this study we demonstrate that SRC-2 is essentially localized in the nucleus of proliferating myoblasts; however, weak (but notable) expression is observed in the cytoplasm. Differentiation induces a predominant localization of SRC-2 to the nucleus; furthermore, the nuclear staining is progressively more localized to dot-like structures or nuclear bodies. MEF2 is primarily expressed in the nucleus, although we observed a mosaic or variegated expression pattern in myoblasts; however, in myotubes all nuclei express MEF2. GRIP-1 and MEF2 are coexpressed in the nucleus during skeletal muscle differentiation, consistent with the direct interaction of these proteins. Rhabdomyosarcoma (RMS) cells derived from malignant skeletal muscle tumors have been proposed to be deficient in cofactors. Alveolar RMS cells very weakly express the steroid receptor coactivator, SRC-2, in a diffuse nucleocytoplasmic staining pattern. MEF2 and the cofactors, SRC-1 and SRC-3 are abundantly expressed in alveolar and embryonal RMS cells; however, the staining is not localized to the nucleus. Furthermore, the subcellular localization and transcriptional activity of MEF2C and a MEF2-dependent reporter are compromised in alveolar RMS cells. In contrast, embryonal RMS cells express SRC-2 in the nucleus, and MEF2 shuttles from the cytoplasm to the nucleus after serum withdrawal. In conclusion, this study suggests that the steroid receptor coactivator SRC-2 and MEF2 are localized to the nucleus during the differentiation process. In contrast, RMS cells display aberrant transcription factor SRC localization and expression, which may underlie certain features of the RMS phenotype.

Acetyltransferases↗
PubMed2006

Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors.

Rhabdomyosarcoma, the most common pediatric soft tissue sarcoma, likely results from deregulation of the skeletal myogenesis program. Although associations between PAX3, PAX7, FOXO1A, and RMS tumorigenesis are well recognized, the entire spectrum of genetic factors underlying RMS development and progression is unclear. Using a combined approach of spectral karyotyping, array-based comparative genomic hybridization (CGH), and expression analysis, we examined 10 primary RMS tumors, including embryonal, alveolar, and the rare adult pleomorphic variant, to explore the involvement of different genes and genetic pathways in RMS tumorigenesis. A complete karyotype established for each tumor revealed a high aneuploidy level, mostly tetraploidy, with double minutes and additional structural aberrations. Quantitative expression analysis detected the overexpression of the AURKA gene in all tumors tested, suggesting a role for this mitotic regulator in the aneuploidy and chromosomal instability observed in RMS. Array-based CGH analysis in primary RMS tumors detected copy number changes of genes involved in multiple genetic pathways, including transcription factors such as MYC-related gene from lung cancer and the cytoskeleton and cell adhesion-encoding genes laminin gamma-2 and p21-activated kinase-1. Our data suggest the involvement of genes encoding cell adhesion, cytoskeletal signaling, and transcriptional and cell cycle components in RMS tumorigenesis.

Adolescent↗
PubMed1998

[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma].

Various chromosome 11 alterations have been described in rhabdomyosarcoma (RMS). Allelic losses of 11p15.5 are characteristic of embryonal RMS (eRMS), whereas an increase in the expression of the Igf2 gene located on 11p15.5 has regularly been observed in eRMS and alveolar RMS (aRMS). The aim of our study was to analyse chromosome 11 alterations of RMS by combining different molecular-genetic and cytogenetic methods. 16 RMSs (7 aRMS with proven 2;13 or 1;13 translocations, 9 eRMS) were studied by a PCR-based microsatellite analysis of loci 11p15.5 and 11q23. Comparative genomic hybridization (CGH) was performed in 8/16 cases. The ploidy status of chromosome 11 was evaluated using the FISH technique. A RT-PCR analysis of Igf2 gene region was performed to evaluate the imprinting status. Allelic losses (LOH) of 11p15.5 were observed in 4/7 aRMS and 8/9 eRMS. These losses were accompanied by LOH of 11q23 in 2/7 aRMS and 5/9 eRMS, respectively. CGH of all the eRMSs and one aRMS studied revealed gains of genetic material mostly involving the entire length of chromosome 11. One aRMS showed a loss of chromosome 11 material, both in CGH and LOH analysis. In 2/9 aRMS, which neither in CGH nor in LOH analysis had exhibited chromosome 11 alterations, biallelic IGF-II expression was revealed. Our results show that chromosome 11 alterations play a major role in the biology of both alveolar and eRMS. Combining the data of our study, we demonstrated that three different chromosome 11 alterations are involved in the tumorigenesis of RMS: 1) LOH resulting in hemizygosity of chromosome 11. 2) LOH with simultaneous gains of chromosome 11 material due to uniparental polysomy. 3) loss of imprinting for the Igf2 gene in the absence of gross chromosome 11 alterations.

Chromosome Aberrations↗
PubMed2002

Value of image cytometry in the subclassification of rhabdomyosarcoma.

OBJECTIVE: To test the discriminatory capability of nuclear features in the subclassification of rhabdomyosarcoma (RMS) and especially to differentiate embryonal from alveolar RMS. STUDY DESIGN: The study included 42 patients with RMS. We performed the analysis on Feulgen-stained filtrates of cell suspensions prepared from deparaffinized tissue sections. Image analysis was performed by an automated, high-resolution image cytometer on at least 200 nuclear images. Photometric, morphometric and nuclear texture features were analyzed. Probability density distributions were calculated for each nuclear feature of individual RMS subgroups and compared in order to detect possible differences. RESULTS: There were significant differences between embryonal and alveolar RMS in five nuclear features: DNA index, sphericity, elongation, low_DNA_area and fractall_area. We were able to differentiate between the two main RMS subgroups in 82% of cases on the basis of either sphericity or elongation alone, while the power of differentiation for texture features was 72-79%. CONCLUSION: Differentiation between embryonal and alveolar RMS using one nuclear feature is not an important adjunct to light microscopy. However, the possibility of using a combination of nuclear features would probably increase the discriminatory ability.

Adolescent↗
PubMedDate not supplied

Possible benefits of high-dose chemotherapy as intensive consolidation in patients with high-risk rhabdomyosarcoma who achieve complete remission with conventional chemotherapy.

The authors reviewed their single-center experience with autologous stem cell transplantation (SCT) in 22 patients with advanced rhabdomyosarcoma. Pathological subtypes included alveolar (n = 7) and embryonal types (n = 15). The conditioning regimen primarily consisted of etoposide, carboplatin, and melphalan. Fourteen, five, and three patients underwent SCT in CR, PR, and PD, respectively. Eight patients are currently alive without evidence of disease. The overall survival rate at 5 years was 70% for 14 patients who were in CR at the time of SCT. This limited experience warrants the examination of SCT in a prospective study.

Adolescent↗
PubMed1997

A comparative study on morphology and immunohistochemistry of rhabdomyosarcoma and embryonal skeletal muscles.

OBJECTIVE: To investigate the histologic and histogenetic relationship between various types of rhabdomyosarcomas (RMS) and embryonal skeletal muscle (ESM) for further understanding of the histogenesis, classification and pattern of differentiation of RMS. METHODS: Fifty cases of variant types of RMS and 20 cases of ESM at different gestational ages were available. All specimens were stained with HE, PAS, Van Gieson, Masson, phosphotungstic acid hematoxilin and with antibodies for the demonstration of vimentin, desmin, HHF-35 and myoglobin by ABC method. RESULTS: The results showed that the order of positive expression and the intensity of positive reaction of the different immunohistochemical staining were consistent with the degree of differentiation of the tumor and the development of the ESM. It is obvious that each type of RMS is composed of tumor cells in different degree of differentiation and is derived from primitive mesodermal cells which are capable of potential differentiation towards mature skeletal muscles. CONCLUSIONS: Based on the results of this study, an ideal histologic classification of RMS should reflect not only the cell morphology and histologic structures but also the degree of differentiation of the tumor cells.

Adolescent↗
PubMed1998

Parameningeal rhabdomyosarcoma. Report of 19 cases.

Parameningeal rhabdomyosarcomas are associated with a poor long term survival. This is due to the fact that they are aggressive tumours with early involvement of the skull base. The authors report a series of 19 cases between 1984 and 1995 with a relative proportion of children, male patients and tumours of embryonal type. Three patients were operated on and only one of them was found with tumour free margins. Systemic chemotherapy using the VAC-VAd protocol was administered in 18 patients and intrathecal chemotherapy was delivered in 5 patients with involvement of the skull base. Nine patients were irradiated with doses varying from 45 to 55 Gy. Twelve patients died from 20 days to 4 years after initial treatment; 6 were lost to follow up and only one patient is living without any evidence of disease after 11 years.

Adolescent↗
PubMed1998

N-myc gene amplification in rhabdomyosarcoma detected by fluorescence in situ hybridization: its correlation with histologic features.

Fluorescence in situ hybridization (FISH) was applied to 15 alveolar rhabdomyosarcomas (A-RMSs) and 14 embryonal RMSs (E-RMSs) to detect N-myc (also called MYCN) oncogene amplification. The results were compared with histologic characteristics and clinical factors. The number of surviving patients in each subtype was 5 of 15 with A-RMS and 5 of 14 with E-RMS. N-myc amplification was detected in 9 of the 15 A-RMSs but in none of the 14 E-RMSs. Tumor cells exhibiting N-myc amplification were identified only in the alveolar area in two A-RMSs, and they demonstrated a histologic mixture of alveolar and embryonal patterns. The remaining seven cases with an amplified N-myc showed a conventional alveolar pattern. Among the 15 A-RMSs, the survival rate of patients with tumors showing nonamplified N-myc and amplified N-myc oncogene was 4 (66%) of 6 and 1(11%) of 9, respectively (P < .05). No significant difference was observed between the other clinical findings (age, primary sites, clinical stages) of the N-myc-amplified and nonamplified tumors. Therefore, we concluded that the N-myc gene amplification, which is characteristic of a particular subtype of A-RMS, might be useful as a prognostic factor for an unfavorable outcome.

Adolescent↗
PubMed1979

Orbital embryonal rhabdomyosarcoma and intracranial schwannoma.

A 39-year-old woman had a large benign intracranial schwannoma of the Gasserian ganglion. Thirty-two years previously, she had an embryonal rhabdomyosarcoma of the orbit. She had been treated by enucleation, local excision, and low-dose supplemental irradiation (1,400 rads). This is the longest survival of which we are aware following any treatment modality in such tumors. No correlation between the two tumors has been established.

Adult↗
PubMed1992

Ciliary body adenoma in a 10-year-old girl who had a rhabdomyosarcoma.

A retrolenticular fibrovascular membrane occurred in the setting of a ciliary body mass in a 10-year-old black girl who had been successfully treated for a rhabdomyosarcoma of the lung. The results of a transscleral biopsy of the mass demonstrated it to be a pigmented adenoma of the ciliary body. A lensectomy and membranectomy were performed to aid in the follow-up and rehabilitation of the eye. At 9 months after surgery, the patient had 20/25 vision with no evidence of tumor growth. This case demonstrates an unusual cause of cyclitic membrane formation and suggests that transscleral biopsy may be a useful adjunct in the management of selected ciliary body masses.

Adenoma↗
PubMed1977

Massive neuraxial spread of aural rhabdomyosarcoma.

An embryonal rhabdomyosarcoma that initially was seen as a polyp in the external auditory canal underwent uncontrollable direct extension along the facial nerve through the internal auditory meatus, with encasement of the base of the brain and entire spinal cord despite radical surgery, supervoltage irradiation, and multidrug chemotherapy. This degree of massive neuraxial spread without systemic metastases appears to be unique.

Brain↗
PubMed1978

Nasopharyngeal rhabdomyosarcoma. A clinical perspective.

Embryonal rhabdomyosarcoma of the nasopharynx is an uncommon tumor occurring almost exclusively in children. The clinical characteristics of 56 previously reported cases are analyzed and four patients recently treated at the UCLA Center for the Health Sciences are described. Special attention has been given to the prognosis of these tumors as it relates to current methods of treatment.

Adolescent↗
PubMed1979

Rhabdomyosarcoma of the temporal bone. Is surgical resection necessary?

Three patients had embryonal rhabdomyosarcoma of the temporal bone. Their clinical appearances demonstrated the following characteristics: (1) symptoms of an acute process in the middle ear cleft and mastoid, (2) a rapidly growing polypoid mass that was visible in the middle ear and external auditory canal, and (3) seventh nerve involvement and destruction of bone. Definitive treatment with the use of systemic chemotherapy and radiation therapy to the invaded structures was followed by maintenance chemotherapy for up to 24 months. Surgical treatment was sufficient to obtain adequate biopsy material. All patients recovered variable degrees of motor nerve functions. One patient experienced a meningococcal meningitis years after treatment; this condition resulted in total deafness. The results suggest that multiple-drug chemotherapy and radiation therapy for all involved areas are the mainstay of treatment for this disease entity.

Antineoplastic Agents↗
PubMed1979

Childhood rhabdomyosarcomas of the head and neck.

The most common soft tissue sarcoma occurring in infants and children is rhabdomyosarcoma, the head and neck being a frequently involved site. Treatment philosophy underwent an evolution in 1968 from radical surgery with or without adjunctive radiation therapy to a planned protocol incorporating surgery and irradiation with combination cyclic chemotherapy involving vincristine sulfate, dactinomycin, and cyclophosphamide. This study represents an analysis of 35 infants and children treated at Columbus Children's Hospital from 1955 to 1976. An evaluation of factors is discussed with respect to effect on survival. The fact that the study includes the full spectrum of treatment philosophies ranging from the previous program of aggressive surgical resection to the current multimodality approach permits a unique opportunity to analyze the success of the recent therapeutic program.

Adolescent↗
PubMed1991

The role of surgery in rhabdomyosarcoma of the head and neck in children.

The role of surgery in the treatment of rhabdomyosarcoma of the head and neck has diminished during the past 25 years. Treatment of this tumor in the pediatric population has involved radical radiation therapy and chemotherapy with little or no role for surgery. However, the potential effect of irradiation on facial growth and the appearance of secondary irradiation-induced tumors has raised the question as to whether surgery may once again play a role in the treatment of these patients. Advances in skull base and reconstructive surgery and microsurgical techniques have permitted a reconsideration of initial ablative surgery. The head and neck surgical team must be prepared to respond in those patients in whom craniofacial development is at risk or recurrence has occurred after radical chemotherapy and/or radiation therapy.

Child, Preschool↗
PubMed1987

The impact of delayed surgery on radiotherapy dose and local control of rhabdomyosarcoma.

To determine if delayed surgery permits the modification of radiotherapy dose while maintaining local control in children with localized, unresectable rhabdomyosarcoma, a prospective study was launched in 1981 to test this objective. Treatment consisted of 16 weeks of preoperative chemotherapy, with or without delayed surgery, and radiotherapy using 35 to 40 Gy (3500 to 4000 rad) for microscopic and 50 to 55 Gy (5000 to 5500 rad) for gross residual tumor, plus 14 months of chemotherapy. Among 22 patients treated, surgery was feasible in 11 of 14 patients with residual tumor after chemotherapy and was performed in eight (avoiding radical surgery in three), leaving microscopic (seven patients) or gross residual (one patient) tumor. Progressive disease or amputation precluded radiotherapy in two patients. After radiotherapy local control was sustained in 12 of 14 patients with microscopic lesions vs none of six patients with gross tumor. Delayed surgery may permit the use of lower-dose radiotherapy and should be considered in the treatment plan for this subset of patients.

Adolescent↗
PubMed2000

Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.

We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group.

Abnormalities, Multiple↗
PubMed1996

Successful treatment of orbital rhabdomyosarcoma in two infants using chemotherapy alone.

Two infants, 2 months and 13 months of age, were found to have orbital embryonal rhabdomyosarcomas (ERMS). Because of the adversities associated with either surgical exenteration or curative doses of radiation therapy, they were treated with chemotherapy alone. They survive disease-free 5 and 9 years after diagnosis with excellent cosmesis and normal vision. This approach may be suitable for similarly small (< 2 cm in diameter) ERMS in other sites.

Antineoplastic Combined Chemotherapy Protocols↗