In utero tumor development and identification ofCTNNB1 mutation in a newborn case of ossifying renal tumor of infancy
Shin Kasai1, Minori Tamai1, Eiji Sugihara2, Naoki Oishi3, Kyoko Hinata1, Koshi Akahane1, Kumiko Goi1, Yuko Hata2, Tetsuo Kondo3, Takahiko Mitsui4, Mio Tanaka5, and Takeshi Inukai1*
1) Departments of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan
2) Division of Gene Regulation, Cancer Center and Open Facility Center, Research Promotion Headquarters, Fujita Health University School of Medicine, Toyoake, Aichi, Japan
3) Department of Pathology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan
4) Department of Urology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan
5) Department of Pathology, Kanagawa Children’s Medical Center, Yokohama, Japan.
*Corresponding author
Takeshi Inukai, Department of Pediatrics, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409–3898, Japan. Email: tinukai@yamanashi.ac.jp
Word count: 849/850 words
Figures: 2
Supplemental Tables: 2
Supplemental Figures: 5
Running title: CTNNB1 mutation in ossifying renal tumor of infancy (44/50 characters)
Key words: CTNNB1, Ossifying renal tumor of infancy, β-catenin, hematuria, calcification, renal tumor
An abbreviations key
ORTI: Ossifying renal tumor of infancy
WES: Whole exome sequencing
EMA: Epithelial membrane antigen
PBMC: Peripheral blood mononuclear cells
CNV: Copy number variation
ILNR: Intralobar nephrogenic rest
CNSET: Calcifying nested stromal-epithelial tumor