-
British Journal of Cancer Jan 2015Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and young adults. Several recent studies have shed new light on the alterations in signalling... (Review)
Review
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and young adults. Several recent studies have shed new light on the alterations in signalling pathways and the downstream effects of these pathway alterations in RMS. Many of these effects converge on the fibroblast growth factor and insulin-like growth-factor pathways. These new findings improve the current understanding of RMS, thus offering novel potential therapeutic targets and strategies that may improve the outcome for patients with RMS.
Topics: Animals; Cell Cycle; Gene Expression Regulation, Neoplastic; Humans; Intercellular Signaling Peptides and Proteins; Muscle Neoplasms; Oncogenes; Rhabdomyosarcoma; Signal Transduction; T-Box Domain Proteins
PubMed: 25211658
DOI: 10.1038/bjc.2014.471 -
Molecular Carcinogenesis Sep 2020Bladder cancer (BCa) is an exophytic tumor that presents as either noninvasive confined to the mucosa (NMIBC) or invading the detrusor muscle (MIBC), and was recently...
Bladder cancer (BCa) is an exophytic tumor that presents as either noninvasive confined to the mucosa (NMIBC) or invading the detrusor muscle (MIBC), and was recently further subgrouped into molecular subtypes. Arylamines, major BCa environmental and occupational risk factors, are mainly metabolized by the genetically polymorphic N-acetyltransferases 1, NAT1 and NAT2. In this study, we investigated the association between N-acetyltransferases genetic polymorphism and key MIBC and NMIBC tumor biomarkers and subtypes. A cohort of 250 males with histologically confirmed urothelial BCa was identified. Tumors were genotyped for NAT1 and NAT2 using real-time polymerase chain reaction (PCR), and characterized for mutations in TP53, RB1, and FGFR3 by PCR-restriction fragment length polymorphism. Pathology data and patients' smoking status were obtained from medical records. Pearson χ and Fisher exact tests were used to check for associations and interactions. Results show that NAT1 G A polymorphism is significantly associated with higher muscle-invasiveness (MIBC vs NMIBC; P = .001), higher tumor grade (high grade vs low grade; P = .011), and higher FGFR3 mutation frequency within the MIBC subgroup (P = .042; .027). NAT2 G A polymorphism is also found to be significantly associated with higher muscle-invasiveness (MIBC vs NMIBC; P = .041). Our results indicate that slow N-acetylation is a contributor to bladder carcinogenesis and muscle-invasiveness. These findings highlight NAT1 as a biomarker candidate in BCa and a potential target for drug development.
Topics: Arylamine N-Acetyltransferase; Biomarkers, Tumor; Female; Follow-Up Studies; Genotype; Humans; Isoenzymes; Male; Middle Aged; Muscle Neoplasms; Mutation; Neoplasm Invasiveness; Polymorphism, Genetic; Prognosis; Risk Factors; Urinary Bladder Neoplasms
PubMed: 32529781
DOI: 10.1002/mc.23232 -
Cold Spring Harbor Perspectives in... Nov 2014Rhabdomyosarcoma (RMS) represents a rare, heterogeneous group of mesodermal malignancies with skeletal muscle differentiation. One major subgroup of RMS tumors... (Review)
Review
Rhabdomyosarcoma (RMS) represents a rare, heterogeneous group of mesodermal malignancies with skeletal muscle differentiation. One major subgroup of RMS tumors (so-called "fusion-positive" tumors) carries exclusive chromosomal translocations that join the DNA-binding domain of the PAX3 or PAX7 gene to the transactivation domain of the FOXO1 (previously known as FKHR) gene. Fusion-negative RMS represents a heterogeneous spectrum of tumors with frequent RAS pathway activation. Overtly metastatic disease at diagnosis is more frequently found in individuals with fusion-positive than in those with fusion-negative tumors. RMS is the most common pediatric soft-tissue sarcoma, and approximately 60% of all children and adolescents diagnosed with RMS are cured by currently available multimodal therapies. However, a curative outcome is achieved in <30% of high-risk individuals with RMS, including all those diagnosed as adults, those diagnosed with fusion-positive tumors during childhood (including metastatic and nonmetastatic tumors), and those diagnosed with metastatic disease during childhood (including fusion-positive and fusion-negative tumors). This white paper outlines current challenges in RMS research and their implications for developing more effective therapies. Urgent clinical problems include local control, systemic disease, need for improved risk stratification, and characterization of differences in disease course in children and adults. Biological challenges include definition of the cellular functions of PAX-FOXO1 fusion proteins, clarification of disease heterogeneity, elucidation of the cellular origins of RMS, delineation of the tumor microenvironment, and identification of means for rational selection and testing of new combination therapies. To streamline future therapeutic developments, it will be critical to improve access to fresh tumor tissue for research purposes, consider alternative trial designs to optimize early clinical testing of candidate drugs, coalesce advocacy efforts to garner public and industry support, and facilitate collaborative efforts between academia and industry.
Topics: Adolescent; Adult; Age Factors; Child; Humans; Interinstitutional Relations; Muscle Neoplasms; Rhabdomyosarcoma; Young Adult
PubMed: 25368019
DOI: 10.1101/cshperspect.a025650 -
Journal of the American Veterinary... Dec 2018
Topics: Animals; Ataxia; Cervical Vertebrae; Diagnosis, Differential; Dog Diseases; Dogs; Euthanasia, Animal; Female; Forelimb; Hemangiosarcoma; Muscle Neoplasms
PubMed: 30668259
DOI: 10.2460/javma.253.12.1545 -
Brain and Nerve = Shinkei Kenkyu No... Aug 2014Non-Hodgkin lymphoma occurs and recurs in the peripheral nerves or skeletal muscles. Lymphoma cells infiltrate along anatomic structures. They typically do not invade... (Review)
Review
Non-Hodgkin lymphoma occurs and recurs in the peripheral nerves or skeletal muscles. Lymphoma cells infiltrate along anatomic structures. They typically do not invade the central nervous system from the cranial or peripheral nerve roots. Analysis of cerebrospinal fluid often does not lead to the diagnosis of neurolymphomatosis, even when meningeal infiltration is present. The concentration of soluble interleukin 2 (IL2) receptor, together with the findings of magnetic resonance imaging (MRI) and 18 fluoro-2-deoxyglucose positron emission tomography (FDG-PET) may contribute to the diagnosis, but not in early stages of the disease. Investigation of other tissues including bone marrow is sometimes useful. Differential diagnosis includes inflammatory demyelinating neuropathy in the nerve, and focal myositis in the muscle, in addition to other malignancies. Some lymphoma clones appear to have affinity for the peripheral nerves or muscle tissues.
Topics: Biopsy; Diagnosis, Differential; Humans; Lymphoma; Muscle Neoplasms; Neoplasm Invasiveness; Peripheral Nervous System Neoplasms
PubMed: 25082317
DOI: No ID Found -
European Urology Oncology May 2019In the past few years, research has suggested that molecular subtypes in muscle-invasive bladder cancer (MIBC) may be exploited to accelerate developments in clinical... (Review)
Review
CONTEXT
In the past few years, research has suggested that molecular subtypes in muscle-invasive bladder cancer (MIBC) may be exploited to accelerate developments in clinical disease management and novel therapeutics.
OBJECTIVE
To review MIBC mouse models from a molecular subtype perspective, their advantages and limitations, and their applications in translational medicine, based on a PubMed search for publications from January 2000 to February 2018.
EVIDENCE ACQUISITION
Publications relevant to MIBC mouse models and their molecular subtypes were identified in a literature review.
EVIDENCE SYNTHESIS
We classified the models according to the technique used for their establishment. For xenotransplant and allograft models, the inoculated cells and inoculated locations are the major determinants of molecular subtypes. Although the cell lines used in xenotransplant models can cover most of the basal-squamous and luminal subtypes, allograft models offer a more realistic environment in which to reconstruct aspects of the associated stromal and immune features. Autochthonous models, using genetic and/or chemical stimuli to induce disease progression, can also generate models with basal-squamous and luminal subtypes, but further molecular characterisation is needed since other mutational variants may be introduced in these models.
CONCLUSIONS
We identified preclinical MIBC models with different subtype specifications and assessed their promise and current limitations. These models are versatile tools that can reproduce the molecular complexity of MIBC and support novel therapeutic development.
PATIENT SUMMARY
Understanding which models of muscle-invasive bladder cancer most accurately represent the clinical situation is important for the development of novel drugs and disease management strategies. We review the different models currently available and their relevance to different clinical subtypes.
Topics: Animals; Biomarkers, Tumor; Disease Models, Animal; Humans; Mice; Muscle Neoplasms; Neoplasm Transplantation; Tumor Cells, Cultured; Tumor Microenvironment; Urinary Bladder Neoplasms
PubMed: 31200837
DOI: 10.1016/j.euo.2018.08.014 -
Der Orthopade Jun 2017Benign bone tumors are heterogeneous and have different biological behaviors. Treatment requires knowledge of the principle diagnosis and clinical behavior to avoid, on... (Review)
Review
INTRODUCTION
Benign bone tumors are heterogeneous and have different biological behaviors. Treatment requires knowledge of the principle diagnosis and clinical behavior to avoid, on the one hand, overtreatment and, on the other hand, incorrect diagnosis of a potentially malignant tumor.
METHODS
Bone tumors of stage I (according to Enneking) should be observed clinically and radiologically. For stage II and stage III lesions, a biopsy should be performed, based on the corresponding oncological guidelines.
RESULTS AND CONCLUSION
Soft tissue tumors have a different radiological behavior (especially in magnetic resonance images): while a lack of sharp cortical margins in bone tumors indicates an aggressive behavior, sharp margins in soft tissue tumors should not be misinterpreted as benign tumors. Subfascial soft tissue tumors, tumors larger than 2 cm, growing tumors, and persisting tumors after trauma require biopsy.
Topics: Biopsy; Bone Neoplasms; Diagnosis, Differential; Diagnostic Imaging; Humans; Medical Overuse; Muscle Neoplasms; Musculoskeletal Diseases
PubMed: 28444414
DOI: 10.1007/s00132-017-3426-2 -
BMC Medical Imaging Sep 2021Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma (NHL), occurring predominantly in older people. Skeletal muscle lymphoma is a rare... (Review)
Review
BACKGROUND
Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma (NHL), occurring predominantly in older people. Skeletal muscle lymphoma is a rare form of DLBCL, most frequently affecting the thigh, upper extremities, calf, and pelvis.
CASE PRESENTATION
We report a case of skeletal muscle DLBCL that was diagnosed using ultrasound (US)-guided biopsy. A 70-year-old man presented with progressive swelling and pain in the left lower extremity and an elevated erythrocyte sedimentation rate (ESR) and serum C-reactive protein (CRP), ferritin, and CA125 levels. US, magnetic resonance imaging (MRI), and computed tomography (CT) showed diffuse lesions in several muscles of the left lower extremity. Positron emission tomography/CT (PET/CT) showed FDG-uptake in the affected muscles. The patient was treated with chemotherapy and achieved a good response. A systematic review of the literature published between 1992 and 2019 was conducted to investigate the role of imaging, including imaging-guided biopsy, in the diagnosis of skeletal muscle lymphoma.
CONCLUSIONS
Skeletal muscle lymphoma is rare. US and MRI features include enlargement of muscular structures, with preservation of the architecture of the tissue and surrounding anatomical structures. Definitive diagnosis relies on histological and immunohistological analysis of a sample obtained through imaging-guided biopsy.
Topics: Aged; Humans; Image-Guided Biopsy; Leg; Lymphoma, Large B-Cell, Diffuse; Magnetic Resonance Imaging; Male; Muscle Neoplasms; Muscle, Skeletal; Tomography, X-Ray Computed; Ultrasonography
PubMed: 34565344
DOI: 10.1186/s12880-021-00667-4 -
Clinical Radiology Aug 2017Interventional approaches to musculoskeletal tumours have significantly changed over the last several years, and new treatments continue to be developed. All ablative... (Review)
Review
Interventional approaches to musculoskeletal tumours have significantly changed over the last several years, and new treatments continue to be developed. All ablative modalities are currently applied to the treatment of bone tumours, including radiofrequency, cryo-, microwave, and laser ablation devices. Indications for ablation of bone and soft-tissue tumours have expanded beyond palliation of painful bone metastases and eradication of osteoid osteomas to the local control of oligometastatic disease from a number of primary tumours and ablation of desmoid tumours. In addition, tools for consolidation of bone tumours at risk of pathological fracture have also expanded. With these developments, ablation has become the primary treatment for osteoid osteomas and, at some institutions, desmoid tumours. It may be the primary or secondary treatment for palliation of painful bone tumours, frequently used in patients with pain refractory to or recurrent after radiation therapy. It is used as a treatment for limited metastatic disease or for metastases that grow disproportionately in patients with multifocal metastases, either in combination with systemic therapy or to reserve systemic therapy and its toxicity for more widespread disease progression. Moreover, percutaneous methods to consolidate bone at risk of fracture have become more commonplace, aided by techniques using materials beyond typical bone cement.
Topics: Ablation Techniques; Bone Neoplasms; Combined Modality Therapy; Humans; Metastasectomy; Muscle Neoplasms; Neoplasm Metastasis; Risk Factors
PubMed: 28363660
DOI: 10.1016/j.crad.2017.02.019 -
Der Urologe. Ausg. A Apr 2015
Topics: Cystectomy; Diagnostic Techniques, Urological; Humans; Muscle Neoplasms; Neoplasm Invasiveness; Urinary Bladder Neoplasms; Urothelium
PubMed: 25895561
DOI: 10.1007/s00120-015-3828-x