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A case of vasculogenic mesenchymal tumor in the mediastinum: whole-exome sequencing reveals origin from pre-existing germ cell tumor

Vasculogenic mesenchymal tumor (VMT), a primitive mesenchymal neoplasm enriched by various-sized atypical vessels, is a new entity that develops in mediastinal germ cell tumors (GCTs) with yolk sac tumor (YST) components after chemotherapy. Notably, patients with VMT in the residual GCT have increas...

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Main Authors: Fujii, Hirotake (Author) , Yamada, Yosuke (Author) , Yamamura, Kentaro (Author) , Ishida, Yoshihiro (Author) , Tsujimura, Marina (Author) , Matsumoto, Kazuhisa (Author) , Tanaka, Satona (Author) , Date, Hiroshi (Author) , Nishikawa, Tadaaki (Author) , Yoshida, Yukihiro (Author) , Kashima, Jumpei (Author) , Yatabe, Yasushi (Author) , Ogawa, Seishi (Author) , Marx, Alexander (Author) , Ulbright, Thomas M. (Author) , Haga, Hironori (Author)
Format: Article (Journal)
Language:English
Published: May 2023
In: Virchows Archiv
Year: 2023, Volume: 482, Issue: 5, Pages: 923-927
ISSN:1432-2307
DOI:10.1007/s00428-023-03529-2
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00428-023-03529-2
Verlag, lizenzpflichtig, Volltext: https://link.springer.com/article/10.1007/s00428-023-03529-2
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Author Notes:Hirotake Fujii, Yosuke Yamada, Kentaro Yamamura, Yoshihiro Ishida, Marina Tsujimura, Kazuhisa Matsumoto, Satona Tanaka, Hiroshi Date, Tadaaki Nishikawa, Yukihiro Yoshida, Jumpei Kashima, Yasushi Yatabe, Seishi Ogawa, Alexander Marx, Thomas M. Ulbright, Hironori Haga
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Summary:Vasculogenic mesenchymal tumor (VMT), a primitive mesenchymal neoplasm enriched by various-sized atypical vessels, is a new entity that develops in mediastinal germ cell tumors (GCTs) with yolk sac tumor (YST) components after chemotherapy. Notably, patients with VMT in the residual GCT have increased risk of developing sarcomas or hematopoietic malignancies. Here, we report a late-teenage male patient with residual teratoma and high-grade VMT after chemotherapy for a mediastinal mixed GCT, including YST. Whole-exome sequencing revealed biallelic inactivation of TP53 and extensive copy number alterations that suggested whole-genome doubling. The biopsy tissue of the mixed GCT before chemotherapy exhibited overlapping genetic alterations to those in the VMT. Immunohistochemical analyses of the VMT showed that the abnormal vessels were positive for cytokeratin, glypican 3, EZH2, and IMP3. The findings that VMT inherits the genetic alterations of pre-existing mixed GCT and exhibits a partly YST-like immunophenotype might contribute to its clinical aggressiveness.
Item Description:Online veröffentlicht: 21. März 2023
Gesehen am 28.08.2024
Physical Description:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-023-03529-2

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