Orbital Rhabdomyosarcoma
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Orbital Rhabdomyosarcoma

Orbital rhabdomyosarcoma (RMS) is a unique, aggressive cancer that develops from mesenchymal stem cells which have the capacity to differentiate into skeletal muscle. Protheragen specializes in the development of new diagnostics and therapeutics approaches for rare and complex cancers, like orbital RMS. We focus on all phases of research and development (R&D) including molecular diagnostics and targeted therapy.

Introduction to Orbital Rhabdomyosarcoma

Orbital rhabdomyosarcoma (RMS) is a type of soft tissue sarcoma most prevalent in children of the age group of 1-10 years. The peak incidence of the ailment is between 5 and 7 years of age. The disease shifts primarily manifests through unilateral proptosis which leads to eyelid swelling or redness along with facial asymmetry. The proptosis manifests suddenly and in most cases it is unilateral. The tumor develops from pluripotent mesenchymal cells capable of differentiating into skeletal muscle in the course of embryonic development.

Histopathological analysis of orbital embryonal rhabdomyosarcoma.Fig.1 Histopathological image of orbital embryonal rhabdomyosarcoma. (Korkmaz I., et al., 2023)

In terms of histology, orbital RMS is subdivided into embryonal, alveoloar, pleomorphic, and spindle cell/sclerosing subtypes of RMS. The embryonal is the most common cranial RMS subtype and has a better overall prognosis compared to other cranial RMS subtypes, especially the alveolar subtype which has greater chances of metastasis and reiteration.

Diagnostic Methods for Orbital Rhabdomyosarcoma

  • Histopathological Examination
    The use of examination under a microscope remains the best method for determining if a patient has an orbital RMS. A biopsy is important in confirming diagnosis and defining tumor subtype. Staining with antibodies against myogenin, myo-D1, desmin, and muscle specific actin is important in differentiation of RMS from other small round blue cell tumors.
  • Molecular Diagnostics
    Techniques like PCR and NGS make it possible to detect precise genetic changes such as PAX3/FOXO1 and PAX7/FOXO1 translocations. These molecular assays aid in definitive diagnosis and help in choosing appropriate therapies that are personalized to the individual's genetic makeup.

Therapeutics of Orbital Rhabdomyosarcoma

Most commonly followed is the VAC protocol that utilizes vincristine, actinomycin-D, and cyclophosphamide combined together. The use of combination therapy this way yielded better outcomes because it destroyed rapidly dividing tumor cells more effectively. More aggressive regimens including ifosfamide and doxorubicin have also been studied more recently to achieve greater effectiveness. The design of targeted agents like the recently developed tyrosine kinase and PARP inhibitors is also one of the hot topics on specific genetic weaknesses of RMS.

Our Services

Protheragen employs modern technologies, including next generation sequencing and polymerase chain reaction (PCR), to deliver precise and useful diagnostic information. Our therapeutic development services concentrate on finding new and developing new therapeutics, for example, targeted inhibitors and immunotherapies against the specific genetic and molecular makeup of orbital RMS.

Diagnostics Development

  • Karyotype Analysis Service
  • Omics Analysis Service
  • Biomarker Development Service
  • Artificial Intelligence Service
  • Customized Diagnostics Development

Therapeutic Development

  • Small Molecule Drug
  • Cell Therapy
  • Gene Therapy
  • Therapeutic Antibody
  • Therapeutic Peptide
  • Therapeutic Protein
  • Customized Therapy Development

Disease Models

  • RMS Cell Lines Implantation Models
  • Patient-Derived Xenograft (PDX) Models
  • PAX3/FOXO1 knockout Models
  • Orthotopic Mouse Models

Protheragen offers robust preclinical research services designed to accelerate the development of effective therapeutics for orbital RMS. Our state-of-the-art facilities and expert scientific team enable comprehensive preclinical studies, including in vitro and in vivo modeling, pharmacokinetics, and drug safety evaluation. If you are interested in our services, please feel free to contact us.

References

  • Korkmaz, Ilayda, et al. "Orbital rhabdomyosarcoma." European Eye Research 3.1 (2023).
  • Jurdy, Lama, et al. "Orbital rhabdomyosarcomas: a review." Saudi Journal of Ophthalmology 27.3 (2013): 167-175.