# Primary lung chordoma: a case report

**Authors:** Naoko Shigeta, Tetsuya Isaka, Kyoko Ono, Mio Tanaka, Tomoyuki Yokose, Hiroyuki Adachi, Wataru Usuba, Hiroyuki Ito

PMC · DOI: 10.1186/s13000-024-01522-0 · Diagnostic Pathology · 2024-07-03

## TL;DR

This paper reports a rare case of primary lung chordoma in a patient with a history of testicular tumor and discusses diagnostic considerations for such rare tumors.

## Contribution

The study highlights the importance of comparing histomorphology and genetic markers in diagnosing primary lung chordoma.

## Key findings

- Histological and immunohistochemical features suggested pulmonary chordoma.
- FISH analysis confirmed the absence of isochromosome 12p and 12p amplification in the lung tumor.
- Comparison of lung and testicular tumors aided in the diagnosis of primary lung chordoma.

## Abstract

Chordoma, a rare malignant tumor arising from notochordal tissue, usually occurs along the spinal axis. Only a few published reports of primary lung chordomas exist. Herein, we present a case of primary lung chordoma and discuss important considerations for diagnosing rare chordomas.

We report a case of primary lung chordoma in a 39-year-old male with a history of testicular mixed germ-cell tumor of yolk sac and teratoma. Computed tomography revealed slow-growing solid lesions in the left lower lobe. We performed wedge resection for suspected germ-cell tumor lung metastasis. Histologically, large round or oval cells with eosinophilic cytoplasm were surrounded by large cells with granular, lightly eosinophilic cytoplasm. Tumor cells were physaliphorous. Immunohistochemistry was positive for brachyury, S-100 protein, epithelial membrane antigen, vimentin, and cytokeratin AE1/AE3, suggesting pulmonary chordoma. Re-examination of the testicular mixed germ-cell tumor revealed no notochordal elements. Although some areas were positive for brachyury staining, hematoxylin and eosin (HE) staining did not show morphological features typical of chordoma. Complementary fluorescence in situ hybridization (FISH) of the lung tumor confirmed the absence of isochromosome 12p and 12p amplification. Thus, a final diagnosis of primary lung chordoma was established.

In patients with a history of testicular mixed germ cell tumors, comparison of histomorphology using HE and Brachyury staining of lung and testicular tumors, and analyzing isochromosome 12p and 12p amplification in lung tumors using FISH is pivotal for the diagnosis of rare lung chordomas.

## Linked entities

- **Genes:** brachyury (transcription factor protein) [NCBI Gene 778911]
- **Proteins:** PRELID1 (PRELI domain containing 1)
- **Diseases:** yolk sac tumor (MONDO:0002143), teratoma (MONDO:0002601), chordoma (MONDO:0008978)

## Full-text entities

- **Genes:** VIM (vimentin) [NCBI Gene 7431], TBX1 (T-box transcription factor 1) [NCBI Gene 6899] {aka CAFS, CATCH22, CTHM, DGCR, DGS, DORV}
- **Diseases:** testicular mixed germ cell tumors (MESH:C563236), Tumor (MESH:D009369), Chordoma (MESH:D002817), lung tumor (MESH:D008175), germ-cell tumor (MESH:D009373), lung metastasis (MESH:D009362), lung and testicular tumors (MESH:D013736), PRESENTATION (MESH:D001946)
- **Chemicals:** HE (-), eosin (MESH:D004801), hematoxylin (MESH:D006416)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11223418/full.md

## References

22 references — full list in the complete paper: https://tomesphere.com/paper/PMC11223418/full.md

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Source: https://tomesphere.com/paper/PMC11223418