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Revisiting chordoma with brachyury, a "new age" marker: analysis of a validation study on 51 cases.

AbstractCONTEXT:
Chordoma is a rare, notochordal tumor with a characteristic histomorphology and immunohistochemical profile. At times, it presents a diagnostic challenge, especially in small biopsies. Brachyury, a nuclear transcription factor, is a recently described immunohistochemical marker for diagnosing chordomas.
OBJECTIVE:
To study the sensitivity and specificity of brachyury in diagnosing chordomas by comparing its expression in axial chordomas with nonchordomatous tumors.
DESIGN:
Fifty-one axial chordomas, accessioned during a 10-year period, and 58 nonchordomatous tumors were subjected to brachyury staining by immunohistochemistry.
RESULTS:
The 51 chordomas occurred in 36 men and 15 women. Sitewise, 34 cases (66.7%) occurred in the sacrococcyx, 9 (17.6%) in the spine, and 8 (15.7%) in the skull base. Histologically, 34 cases (66.7%) were classical chordomas, 13 cases (25.5%) had a dominant chondroid component, and 2 cases each (3.9%) were chondroid chordomas and dedifferentiated chordomas, respectively. Brachyury staining was positive in 46 of the 51 chordomas (90.2%) and negative in all 58 nonchordomatous tumors. The dedifferentiated area in 2 chordomas was negative for brachyury staining. Fourteen of 15 chordomas with chondroid component showed positive brachyury staining. Immunohistochemical expression of other markers, included cytokeratin (positive in 23 of 23 cases; 100%), epithelial membrane antigen (positive in 22 of 22 cases; 100%) and S100 protein (positive in 18 of 21 cases; 85.7%).
CONCLUSION:
Exclusive brachyury expression in more than 90% of chordomas indicates its value as a unique, specific marker with other sensitive markers like cytokeratin, epithelial membrane antigen, and/or S100 protein in substantiating a diagnosis of chordoma, including on small biopsies.
AuthorsNirmala A Jambhekar, Bharat Rekhi, Kiran Thorat, Rajesh Dikshit, Manish Agrawal, Ajay Puri
JournalArchives of pathology & laboratory medicine (Arch Pathol Lab Med) Vol. 134 Issue 8 Pg. 1181-7 (Aug 2010) ISSN: 1543-2165 [Electronic] United States
PMID20670140 (Publication Type: Journal Article, Validation Study)
Chemical References
  • Biomarkers, Tumor
  • Fetal Proteins
  • T-Box Domain Proteins
  • Brachyury protein
Topics
  • Biomarkers, Tumor (metabolism)
  • Chordoma (diagnosis, metabolism)
  • Female
  • Fetal Proteins (metabolism)
  • Humans
  • Immunohistochemistry
  • Male
  • Notochord (metabolism, pathology)
  • Skull Base Neoplasms (diagnosis, metabolism)
  • Spinal Neoplasms (diagnosis, metabolism)
  • T-Box Domain Proteins (metabolism)

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