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Related Experiment Video

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Spontaneous Murine Model of Anaplastic Thyroid Cancer
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Primary Thyroid Gland Alveolar Soft Part Sarcoma.

Rumeal D Whaley1, Lester D R Thompson2

  • 1Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

Head and Neck Pathology
|November 30, 2019
PubMed
Summary
This summary is machine-generated.

Alveolar soft part sarcoma (ASPS), a rare cancer, was identified in the thyroid gland. This case highlights the importance of considering ASPS in thyroid masses, especially with TFE3 gene rearrangement.

Keywords:
Biopsy, fine-needleGene rearrangementHumansSarcoma, alveolar soft partThyroid gland

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor.
  • ASPS is typically associated with the ASPSCR1-TFE3 gene fusion.
  • Primary ASPS of the thyroid gland is exceptionally rare and has not been previously reported.

Observation:

  • A 71-year-old male with a history of breast cancer presented with a pulmonary nodule and a thyroid gland mass.
  • A large (7.6 cm) thyroid mass was surgically removed, exhibiting destructive invasion.
  • Histopathological examination revealed characteristic alveolar nests of neoplastic cells.

Findings:

  • Immunohistochemistry showed positivity for TFE3 and CD68.
  • Fluorescence in situ hybridization (FISH) confirmed a TFE3 gene rearrangement.
  • The tumor was negative for common thyroid markers (thyroglobulin, TTF-1, calcitonin, PAX8) and melanoma markers (HMB45).

Implications:

  • This case represents the first documented instance of primary ASPS originating in the thyroid gland.
  • The findings expand the differential diagnosis for thyroid gland masses, particularly those with TFE3 rearrangements.
  • Accurate diagnosis is crucial for appropriate patient management and prognosis.