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Related Concept Videos

Skin Cancer01:30

Skin Cancer

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Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
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Related Experiment Video

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Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
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Sclerosing Epithelioid Fibrosarcoma.

Laura M Warmke1, Wendong Yu2, Jeanne M Meis2

  • 1Department of Pathology and Laboratory Medicine, Indiana University, IU Health Pathology Laboratory, 350 W 11th Street, Room 4086, Indianapolis, IN 46202, USA.

Surgical Pathology Clinics
|January 26, 2024
PubMed
Summary

Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive cancer found in soft tissue or bone. This rare tumor often shows MUC4 positivity and EWSR1 gene rearrangements, resisting conventional treatments.

Keywords:
CREB3L1CREB3L2EWSR1FUSKMT2ALow-grade fibromyxoid sarcomaMUC4Sclerosing epithelioid fibrosarcoma

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive soft tissue and bone sarcoma.
  • Previously debated relationship with low-grade fibromyxoid sarcoma (LGFMS), SEF exhibits significantly more aggressive behavior.
  • SEF demonstrates a propensity for metastasis to the lungs and bone, and commonly arises within the abdominal cavity.

Purpose of the Study:

  • To delineate the key histological and immunohistochemical features of SEF.
  • To identify common genetic alterations, specifically gene rearrangements, in SEF.
  • To understand the clinical behavior and treatment resistance of SEF.

Main Methods:

  • Histopathological examination of SEF tissue samples.
  • Immunohistochemical staining, focusing on MUC4 expression.
  • Genetic analysis to detect gene rearrangements, including EWSR1 fusions.

Main Results:

  • Histology reveals uniform nuclei in a dense collagenous stroma resembling osteoid.
  • Immunohistochemistry frequently shows strong MUC4 positivity.
  • The majority of SEF cases (75%) exhibit EWSR1 gene rearrangement, predominantly with CREB3L1 fusion.
  • Other fusions involving EWSR1 and CREB family genes have also been identified.

Conclusions:

  • SEF is a distinct sarcoma with characteristic histological and immunohistochemical findings.
  • EWSR1 gene rearrangements are a common hallmark of SEF, often involving CREB3L1.
  • SEF is largely unresponsive to current chemotherapy and radiation therapy, highlighting the need for novel therapeutic strategies.