Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case
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Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case Masato Komatsu 1 & Nobuyuki Yamamoto 2 & Teruya Kawamoto 3,4 & Yohei Kawakami 3 & Hitomi Hara 3 & Suguru Uemura 2 & Noriyuki Nishimura 2 & Toshihiro Akisue 5 & Ryosuke Kuroda 3 & Kazumoto Iijima 2 & Naoe Jimbo 1 & Maki Kanzawa 1 & Kazuyoshi Kajimoto 6 & Tomoo Itoh 1 & Takanori Hirose 6,7 Received: 8 December 2019 / Revised: 26 April 2020 / Accepted: 3 May 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords NR1D1 . MAML1 . Fusion gene
Introduction Epithelioid soft tissue tumors have been increasingly recognized with a wide range of histological spectrum. Therefore, in addition to careful and detailed histological observations, comprehensive analyses, including immunohistochemical, cytogenetic, and genetic analyses as represented by nextgeneration sequencing (NGS), to identify tumor-specific genetic alterations, are imperative for the accurate diagnosis [1].
We herein performed a next-generation RNA sequencing analysis of pediatric unclassifiable soft tissue tumor with epithelioid and unique histological features, in which a completely novel fusion gene, NR1D1-MAML1, was identified. Since the gene rearrangement associated with NR1D1 and MAML1 has not yet been described in any neoplasms, we herein present detailed clinicopathological descriptions of this case for insights into the unrecognized basket of tumors with an epithelioid morphology.
* Masato Komatsu [email protected]
4
Division of Orthopedic Surgery, Kobe University International Clinical Cancer Research Center, 1-5-1 Minatojimaminami-machi, Chuo-ku, Kobe, Hyogo Prefecture 650-0047, Japan
1
Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, -5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture 650-0017, Japan
5
Department of Rehabilitation Science, Kobe University Graduate School of Health Sciences, 7-10-2 Tomogaoka, Suma-ku, Kobe, Hyogo Prefecture 654-0142, Japan
2
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho
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