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Sarcoma (soft tissue): An Overview of Introduction, Types, Pathogenesis, Lab Diagnosis, Treatment, Prevention, and Keynotes

Introduction

Soft tissue sarcomas are a heterogeneous group of malignant tumors arising from mesenchymal tissues such as muscle, fat, fibrous tissue, blood vessels, and peripheral nerves. They are rare but aggressive cancers that can occur at any age and in any anatomical location, most commonly in the extremities.

Types of Soft Tissue Sarcoma

  • Liposarcoma
  • Leiomyosarcoma
  • Rhabdomyosarcoma
  • Synovial sarcoma
  • Malignant peripheral nerve sheath tumor (MPNST)
  • Fibrosarcoma
  • Angiosarcoma
  • Undifferentiated pleomorphic sarcoma

Pathogenesis

  • Genetic mutations and chromosomal translocations (e.g., t(X;18) in synovial sarcoma)
  • Activation of oncogenes and inactivation of tumor suppressor genes (TP53, RB1)
  • Dysregulation of the cell cycle and apoptosis
  • Tumor angiogenesis and invasive growth
  • Association with radiation exposure, chronic lymphedema, and inherited syndromes (Li-Fraumeni, NF1)

Laboratory Diagnosis

  • Imaging: MRI (local extent), CT scan (metastasis)
  • Biopsy: Core needle or excisional biopsy
  • Histopathology: Tumor grading and subtype identification
  • Immunohistochemistry: Desmin, SMA, Myogenin, S-100, CD34
  • Molecular studies: FISH, PCR, NGS for specific gene rearrangements

Treatment

  • Wide surgical excision with negative margins
  • Radiotherapy (neoadjuvant or adjuvant)
  • Chemotherapy (doxorubicin, ifosfamide)
  • Targeted therapy and immunotherapy in selected cases
  • Multidisciplinary management is essential.

Prevention

  • Avoidance of unnecessary radiation exposure
  • Monitoring high-risk individuals (genetic syndromes)
  • Early evaluation of painless enlarging soft tissue masses
  • Occupational and environmental safety

Keynotes

  • Soft tissue sarcomas are rare but aggressive.
  • Painless mass is a common early presentation.
  • MRI is the imaging modality of choice.
  • Histopathology and molecular studies confirm the diagnosis.
  • Early detection and complete surgical excision improve prognosis.

Further Readings

  1. https://www.pennmedicine.org/conditions/soft-tissue_sarcoma
  2. https://iconcancercentre.co.uk/conditions/soft-tissue_sarcoma
  3. https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/soft-tissue-sarcomas
  4. https://iconcancercentre.co.uk/conditions/soft-tissue_sarcoma
  5. https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/soft-tissue_sarcomas
  6. https://www.mayoclinic.org/diseases-conditions/soft-tissue_sarcoma/symptoms-causes/syc-20377725
  7. https://www.cancerresearchuk.org/about-cancer/soft-tissue_sarcoma/about
  8. https://www.explorationpub.com/uploads/Article/A100734/100734.pdf
  9. https://www.sciencedirect.com/science/article/pii/S0923753419397224
  10. https://www.cancer.org/cancer/types/soft-tissue_sarcoma/causes-risks-prevention.html
  11. https://www.cancer.org/cancer/types/soft-tissue_sarcoma/about/soft-tissue_sarcoma.html
  12. https://www.clinicaloncologyonline.net/article/S0936-6555(09)00237-4/fulltext
  13. https://www.cancer.org.au/cancer-information/types-of-cancer/rare-cancers/soft-tissue_sarcoma
  14. https://www.istitutogentili.com/en/rare-diseases/soft-tissue-sarcomas

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