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Current Topics in Developmental Biology 2011Rhabdomyosarcomas (RMS) are very heterogeneous tumors that can be divided into three major groups: alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma, and pleomorphic... (Review)
Review
Rhabdomyosarcomas (RMS) are very heterogeneous tumors that can be divided into three major groups: alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma, and pleomorphic rhabdomyosarcoma. Concerted efforts over the past a decade have led to an understanding of the genetic underpinnings of many human tumors through genetically engineered models; however, left largely behind in this effort have been rare tumors with poorly understood chromosomal abnormalities including the vast majority of RMS lacking a pathognomonic translocation, i.e. fusion-negative RMS. In this chapter, we review the characteristic genetic abnormalities associated with human RMS and the genetically engineered animal models for these fusion-negative RMS. We explore not only how specific combinations of mutations and cell of origin give rise to different histologically and biologically distinguishable pediatric and adult RMS subtypes, but we also examine how tumor cell phenotype (and tumor "stem" cell phenotype) can vary markedly from the cell of origin.
Topics: Animals; Cell Transformation, Neoplastic; Humans; Neoplastic Stem Cells; Phenotype; Rhabdomyosarcoma
PubMed: 21621066
DOI: 10.1016/B978-0-12-385940-2.00002-4 -
American Society of Clinical Oncology... 2013The International Classification of Rhabdomyosarcoma (ICR) has provided diagnostic criteria for rhabdomyosarcoma (RMS) and formed the basis of histologic risk... (Review)
Review
The International Classification of Rhabdomyosarcoma (ICR) has provided diagnostic criteria for rhabdomyosarcoma (RMS) and formed the basis of histologic risk stratification since its publication in 1995. However, the recognition of new variants of embryonal rhabdomyosarcoma (ERMS), shifts in the diagnostic criteria of alveolar rhabdomyosarcoma (ARMS), the increasing use of myogenin immunohistochemistry and recognition of the distinct biologic properties associated with fusion status all raised questions about the continued use of this classification system in the diagnosis and treatment of patients with RMS. Recent Children's Oncology Group Soft Tissue Sarcoma Committee analysis of histology and fusion status in the intermediate risk RMS study D9803 refined the histologic criteria of RMS. We validated the new diagnostic criteria against fusion status, allowing prospective examination of the prognostic value of histology compared with fusion status for risk-stratification of patients with RMS. This article summarizes the evolution of and current practices in the histologic and molecular classification of rhabdomyosarcoma.
Topics: Biomarkers, Tumor; Forecasting; Humans; Neoplasm Staging; Oncogene Proteins, Fusion; Prognosis; Rhabdomyosarcoma; Risk Assessment; Treatment Outcome
PubMed: 23714565
DOI: 10.14694/EdBook_AM.2013.33.425 -
The Journal of International Medical... Mar 2020Rhabdomyosarcoma (RMS) is a common soft tissue tumor in children, but it is rare in adults. Alveolar rhabdomyosarcoma (ARMS) is a subtype of RMS and is extremely rare in... (Review)
Review
Rhabdomyosarcoma (RMS) is a common soft tissue tumor in children, but it is rare in adults. Alveolar rhabdomyosarcoma (ARMS) is a subtype of RMS and is extremely rare in adults, especially concerning the genital tract. We report a case of a 20-year-old woman who was admitted to and treated in our hospital for an RMS of the vulva. The patient presented with local recurrence and bone metastasis during chemotherapy after surgery and died within 1 year of diagnosis. Based on a literature review, the prognosis of ARMS in adults is poor. The treatment strategy for ARMS is not well established yet. The lungs and bone are two common sites of metastasis of ARMS.
Topics: Adult; Fatal Outcome; Female; Humans; Rhabdomyosarcoma, Alveolar; Vulva; Young Adult
PubMed: 32223663
DOI: 10.1177/0300060520905438 -
Journal of the Korean Association of... Apr 2023This systematic review aimed to analyze the clinicopathological profile and relevant prognostic factors of head and neck rhabdomyosarcoma in pediatric patients. The... (Review)
Review
This systematic review aimed to analyze the clinicopathological profile and relevant prognostic factors of head and neck rhabdomyosarcoma in pediatric patients. The search was carried out in the electronic search portals PubMed, Lilacs, Embase, Scopus, and Web of Science. The search yielded studies that were then analyzed regarding study topic, data extraction, and risk of bias using the STROBE (Strengthening the Reporting of Observational Studies) guidelines. Finally, three studies were included for qualitative analysis. Most of the cases involved embryonic and alveolar rhabdomyosarcoma. Expression of MYOD1 was highly correlated with diagnosis of spindle cell/sclerosing rhabdomyosarcoma, which appears to have a poor prognosis in children. Furthermore, tumor size <5 cm and absence of metastasis accompanied by complete resection and administration of adjuvant therapies such as chemotherapy and radiotherapy favored a better prognosis.
PubMed: 37114443
DOI: 10.5125/jkaoms.2023.49.2.61 -
Frontiers in Medicine 2022Rhabdomyosarcoma (RMS) is the most frequent soft sarcoma in children and adolescents. Alveolar rhabdomyosarcoma (ARMS) is a relatively rare subtype that is characterized...
BACKGROUND
Rhabdomyosarcoma (RMS) is the most frequent soft sarcoma in children and adolescents. Alveolar rhabdomyosarcoma (ARMS) is a relatively rare subtype that is characterized by aggressive behavior and an unsatisfactory prognosis. An ARMS can arise anywhere but most commonly occurs at extremity sites with a very small fraction in the retroperitoneum. The utility of 2-Deoxy-2-[fluorine-18]-fluoro-D-glucose (F-FDG) positron emission tomography combined with computed tomography (PET/CT) remains to be established in ARMS.
CASE REPORT
A 3-year-old female child was accidentally found with a large left upper abdominal mass for a day. CT examination indicated a huge soft tissue mass in the left retroperitoneum extending superiorly to the level of the left hilus renalis and inferiorly to the left acetabulum in the pelvic cavity, with intrusion into the lumbar foramens. F-FDG PET/CT found a mass in the left retroperitoneum from the level of T12 to the left acetabulum, with the maximum standardized uptake value (SUV) of about 7.0, and a CT value of about 39 HU, invading the left L3-5 intervertebral foramina and protruding into the spinal canal, with unclear boundary with the spinal cord. Retroperitoneal tumor resection and the repair operation of vascular exploration were performed. An ARMS was confirmed by postoperative biopsy, immunohistochemical staining, and genetic detection with the rupture of the fork head in rhabdomyosarcoma (FKHR). The patient received chemotherapy and was in a good condition with no recurrence and obvious complications.
CONCLUSION
Retroperitoneal ARMS is rare and indicates a poor outcome with the potential to involve vital organs and intrude into the spinal canal. Accurate diagnosis and staging using PET/CT would contribute to better risk stratifications and appropriate treatment individually.
PubMed: 36405590
DOI: 10.3389/fmed.2022.1019964 -
Oncoimmunology 2022Rhabdomyosarcoma (RMS) is an aggressive pediatric soft tissue sarcoma characterized by a very poor prognosis when relapses occur after front-line therapy. Therefore, a...
Rhabdomyosarcoma (RMS) is an aggressive pediatric soft tissue sarcoma characterized by a very poor prognosis when relapses occur after front-line therapy. Therefore, a major challenge for patients' management remains the identification of markers associated with refractory and progressive disease. In this context, cancer autoantibodies are natural markers of disease onset and progression, useful to unveil novel therapeutic targets. Herein, we matched autoantibody profiling of alveolar RMS (ARMS) patients with genes under regulatory control of PAX3-FOXO1 transcription factor and revealed fibroblast growth factor 8 (FGF8) as a novel ARMS tumor antigen of diagnostic, prognostic, and therapeutic potential. We demonstrated that high levels of FGF8 autoantibodies distinguished ARMS patients from healthy subjects and represented an independent prognostic factor of better event-free survival. FGF8 was overexpressed in ARMS tumors compared to other types of pediatric soft tissue sarcomas, acting as a positive regulator of cell signaling. Indeed, FGF8 was capable of stimulating ARMS cells migration and expression of pro-angiogenic and metastasis-related factors, throughout MAPK signaling activation. Of note, FGF8 was found to increase in recurrent tumors, independently of PAX3-FOXO1 expression dynamics. Risk of recurrence correlated positively with FGF8 expression levels at diagnosis and reduced FGF8 autoantibodies titer, almost as if to suggest a failure of the immune response to control tumor growth in recurring patients. This study provides evidence about the crucial role of FGF8 in ARMS and the protective function of natural autoantibodies, giving new insights into ARMS biology and laying the foundations for the development of new therapeutic strategies.
Topics: Autoantibodies; Fibroblast Growth Factor 8; Humans; Immunity; Neoplasm Recurrence, Local; PAX3 Transcription Factor; Paired Box Transcription Factors; Rhabdomyosarcoma, Alveolar; Rhabdomyosarcoma, Embryonal
PubMed: 35813575
DOI: 10.1080/2162402X.2022.2096349 -
Andes Pediatrica : Revista Chilena de... Jun 2021Rhabdomyosarcoma (RMS) is a malignant solid tumor of mesenchymal origin. It is the most com mon soft-tissue sarcoma in childhood and adolescence. 65% of cases are...
INTRODUCTION
Rhabdomyosarcoma (RMS) is a malignant solid tumor of mesenchymal origin. It is the most com mon soft-tissue sarcoma in childhood and adolescence. 65% of cases are diagnosed before the age of 6. Histological subtypes include embryonal, alveolar, pleomorphic, and fused-cell RMS. The embryo nal subtype is more frequent in children, while the alveolar one is more frequent in adolescents and adults.
OBJECTIVE
To describe the clinical presentation of primary alveolar rhabdomyosarcoma in a schoolgirl.
CLINICAL CASE
7-year-old schoolgirl with one-month history of progressive pain in her left thigh. X-ray shows a lytic lesion in the left femur diaphysis. A study was performed with 2 biopsies, immunohistochemistry, and PAX-FOXO1 studies which were compatible with alveolar RMS. Con clusion: Primary alveolar rhabdomyosarcoma of the bone is rare, but it should be considered within the differential diagnosis of primary small-round-blue cell bone tumors. Despite presenting a poor prognosis cytogenetic, this type of tumor seems to have better biological behavior, which for a successful treatment makes necessary to have a high index of suspicion in order to install a multimodal therapy in the context of a national protocol.
Topics: Child; Female; Femoral Neoplasms; Humans; Rhabdomyosarcoma, Alveolar
PubMed: 34479252
DOI: 10.32641/andespediatr.v92i3.2613 -
Polish Journal of Pathology : Official... 2018The last 25 years have brought significant progress in the treatment of sarcomas in children, especially rhabdomyosarcoma (RMS). Nevertheless, treatment failure in some... (Review)
Review
The last 25 years have brought significant progress in the treatment of sarcomas in children, especially rhabdomyosarcoma (RMS). Nevertheless, treatment failure in some patients results from considerable biological heterogeneity noted in these tumours. RMS, the most common malignant soft tissue neoplasm in children, includes two main subtypes: embryonal (ERMS) and alveolar (ARMS). Due to greater aggressiveness and worse prognosis of ARMS in comparison to ERMS, discrimination between different rhabdomyosarcoma subtypes is of crucial clinical importance. This paper presents the current histological classification of RMS, up-to-date immunohistochemical and biological research regarding RMS, and its associated clinical and prognostic significance.
Topics: Age of Onset; Biomarkers, Tumor; Biopsy; Child; Diagnosis, Differential; Humans; Immunohistochemistry; Molecular Diagnostic Techniques; Neoplasm Staging; Predictive Value of Tests; Rhabdomyosarcoma, Alveolar; Rhabdomyosarcoma, Embryonal; Terminology as Topic
PubMed: 29895123
DOI: 10.5114/pjp.2018.75333 -
Head and Neck Pathology Mar 2020Skeletal muscle tumors are classified into rhabdomyoma and embryonal, alveolar, spindle cell/sclerosing and pleomorphic rhabdomyosarcoma according to WHO classifications... (Review)
Review
Skeletal muscle tumors are classified into rhabdomyoma and embryonal, alveolar, spindle cell/sclerosing and pleomorphic rhabdomyosarcoma according to WHO classifications of tumors. These tumors arise mostly in the head and neck and, in childhood, represent the largest subset of soft tissue tumors. Although these skeletal muscle tumors show common immunoexpression of two myogenic regulatory factors, MyoD1 and myogenin, their molecular biological backgrounds are quite different. Therefore, treatment regimens vary a great deal depending on the histological subtype. Histopathologically, rhabdomyoma is characterized by well-demarcated lesions with no invasion of the surrounding tissue. Embryonal rhabdomyosarcoma is composed of primitive mesenchymal cells in various stages of myogenesis and shows heterogeneous nuclear staining for myogenin. Alveolar rhabdomyosarcoma, on the other hand, shows a proliferation of uniform primitive round cells arranged in alveolar patterns. The tumor cells at the periphery of alveolar structures adhere in a single layer to the fibrous septa. Diffuse and strong nuclear immunoexpression for myogenin is observed. In genetic backgrounds, almost all alveolar rhabdomyosarcomas contain a characteristic fusion gene such as PAX3/7-FOXO1. Spindle cell/sclerosing rhabdomyosarcoma is characterized by fascicularly arranged spindle-shaped cells or dense hyalinized collagenous matrix. NCOR2- or VGLL2-related gene fusions or MYOD1 (p.L122R) mutation is commonly recognized. Epithelioid rhabdomyosarcoma is a rare variant of rhabdomyosarcoma that shows a proliferation of epithelioid tumor cells having large vesicular nuclei, prominent nucleoli, and amphophilic to eosinophilic cytoplasm arranged in sheets. As these characteristic histological and molecular features are present in each subtype, it is possible to diagnose skeletal muscle tumors accurately.
Topics: Humans; Neoplasms, Muscle Tissue; Soft Tissue Neoplasms
PubMed: 31950473
DOI: 10.1007/s12105-019-01113-2 -
Molecular Imaging and Radionuclide... Feb 2023A 70-year-old man with a tumor in the nasal and paranasal space, was pathologically diagnosed with an alveolar rhabdomyosarcoma, with right cervical lymph node...
A 70-year-old man with a tumor in the nasal and paranasal space, was pathologically diagnosed with an alveolar rhabdomyosarcoma, with right cervical lymph node metastasis. Magnetic resonance imaging revealed a primary tumor in the nasal and paranasal sinuses, with associated intracranial infiltration. C-methionine positron emission tomography/computed tomography (PET/CT) revealed increased uptake in the primary tumor and right cervical lymph node metastasis. F-fluorodeoxyglucose PET/CT also revealed increased uptake in the primary tumor and right cervical lymph node. However, the physiological brain uptake overlapped with the primary tumor uptake. Our case suggests the usefulness of C-methionine PET/CT for accurately assessing the extent of alveolar rhabdomyosarcoma, especially in cases with intracranial infiltration or those approximating the brain.
PubMed: 36819829
DOI: 10.4274/mirt.galenos.2022.96977