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- Title
Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case.
- Authors
Komatsu, Masato; Yamamoto, Nobuyuki; Kawamoto, Teruya; Kawakami, Yohei; Hara, Hitomi; Uemura, Suguru; Nishimura, Noriyuki; Akisue, Toshihiro; Kuroda, Ryosuke; Iijima, Kazumoto; Jimbo, Naoe; Kanzawa, Maki; Kajimoto, Kazuyoshi; Itoh, Tomoo; Hirose, Takanori
- Abstract
We herein describe soft tissue tumor arising in the lower extremity of a pediatric patient. The tumor displayed a unique and wide range of histological features, sheet-like and cohesive growth pattern consisting of enlarged round to epithelioid atypical cells with a large alveolar and pseudopapillary histological architecture, focally mimicking alveolar soft part sarcoma and MiT family translocation renal cell carcinoma. Tumor cells were focally immunoreactive for cytokeratin, S-100, and EMA. RNA sequencing identified a novel in-frame NR1D1 (exon 5)-MAML1 (exon 2) gene rearrangement resulting in the formation of a putative chimeric protein containing the N-terminal C4-type zing finger domains of NR1D1 and the C-terminal MAML1 protein, which was confirmed by subsequent RT-PCR, Sanger sequencing, and FISH assay. To the best of our knowledge, NR1D1-MAML1 fusion has not yet been described in any neoplasms, suggesting the emergence of a novel tumor entity.
- Subjects
SOFT tissue tumors; CHIMERIC proteins; CHILD patients; RENAL cell carcinoma; GENE rearrangement
- Publication
Virchows Archiv: European Journal of Pathology, 2020, Vol 477, Issue 6, p891
- ISSN
0945-6317
- Publication type
Article
- DOI
10.1007/s00428-020-02838-0