A SAMD5–SASH1 fusion in solitary infantile myofibromatosis

医学
作者
Motoi Yamashita,Masae Kuroha,Yuko Kinowawki,Nao Kashiwagi,Kotaro Watanabe,Mika Nagase,Daiki Niizato,Noriko Mitsuiki,Takeshi Isoda,Takahiro Kamiya,Atsuko Arisaka,Motoki Inaji,Kenichi Ohashi,Kohsuke Imai,Hirokazu Kanegane,Tomohiro Morio,Masatoshi Takagi
出处
期刊:Pediatric Blood & Cancer [Wiley]
卷期号:70 (6) 被引量:1
标识
DOI:10.1002/pbc.30278
摘要

Pediatric Blood & CancerVolume 70, Issue 6 e30278 LETTER TO THE EDITOR A SAMD5–SASH1 fusion in solitary infantile myofibromatosis Motoi Yamashita, Motoi Yamashita orcid.org/0000-0002-9814-1033 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorMasae Kuroha, Masae Kuroha orcid.org/0000-0002-7965-356X Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorYuko Kinowawki, Yuko Kinowawki Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorNao Kashiwagi, Nao Kashiwagi Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKotaro Watanabe, Kotaro Watanabe Department of Pediatrics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JapanSearch for more papers by this authorMika Nagase, Mika Nagase Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorDaiki Niizato, Daiki Niizato Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorNoriko Mitsuiki, Noriko Mitsuiki Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTakeshi Isoda, Takeshi Isoda orcid.org/0000-0003-3349-3705 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTakahiro Kamiya, Takahiro Kamiya Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorAtsuko Arisaka, Atsuko Arisaka Department of Pediatrics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JapanSearch for more papers by this authorMotoki Inaji, Motoki Inaji Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKenichi Ohashi, Kenichi Ohashi Department of Human Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKohsuke Imai, Kohsuke Imai Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University (TMDU), Tokyo, Japan Department of Pediatrics, National Defense Medical College, Tokorozawa, JapanSearch for more papers by this authorHirokazu Kanegane, Hirokazu Kanegane Department of Child Health and Development, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTomohiro Morio, Tomohiro Morio Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorMasatoshi Takagi, Corresponding Author Masatoshi Takagi [email protected] orcid.org/0000-0002-7580-9184 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan Correspondence Masatoshi Takagi, 1-5-45 Yushima, Bunkyo, Tokyo, 113–8519, Japan. Email: [email protected]Search for more papers by this author Motoi Yamashita, Motoi Yamashita orcid.org/0000-0002-9814-1033 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorMasae Kuroha, Masae Kuroha orcid.org/0000-0002-7965-356X Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorYuko Kinowawki, Yuko Kinowawki Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorNao Kashiwagi, Nao Kashiwagi Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKotaro Watanabe, Kotaro Watanabe Department of Pediatrics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JapanSearch for more papers by this authorMika Nagase, Mika Nagase Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorDaiki Niizato, Daiki Niizato Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorNoriko Mitsuiki, Noriko Mitsuiki Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTakeshi Isoda, Takeshi Isoda orcid.org/0000-0003-3349-3705 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTakahiro Kamiya, Takahiro Kamiya Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorAtsuko Arisaka, Atsuko Arisaka Department of Pediatrics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JapanSearch for more papers by this authorMotoki Inaji, Motoki Inaji Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKenichi Ohashi, Kenichi Ohashi Department of Human Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorKohsuke Imai, Kohsuke Imai Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University (TMDU), Tokyo, Japan Department of Pediatrics, National Defense Medical College, Tokorozawa, JapanSearch for more papers by this authorHirokazu Kanegane, Hirokazu Kanegane Department of Child Health and Development, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorTomohiro Morio, Tomohiro Morio Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanSearch for more papers by this authorMasatoshi Takagi, Corresponding Author Masatoshi Takagi [email protected] orcid.org/0000-0002-7580-9184 Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan Correspondence Masatoshi Takagi, 1-5-45 Yushima, Bunkyo, Tokyo, 113–8519, Japan. Email: [email protected]Search for more papers by this author First published: 02 March 2023 https://doi.org/10.1002/pbc.30278Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. REFERENCES 1Mashiah J, Hadj-Rabia S, Dompmartin A, et al. Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol. 2014; 71(2): 264- 270. 2Levine E, Freneaux P, Schleiermacher G, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012; 59(1): 115- 120. 3Manisterski M, Benish M, Levin D, et al. Diverse presentation and tailored treatment of infantile myofibromatosis: a single-center experience. Pediatr Blood Cancer. 2021; 68(2):e28769. 4Choi JH, Ro JY. The 2020 WHO classification of tumors of soft tissue: selected changes and new entities. Adv Anat Pathol. 2021; 28(1): 44- 58. 5Sbaraglia M, Bellan E, Dei Tos AP. The 2020 WHO classification of soft tissue tumours: news and perspectives. Pathologica. 2021; 113(2): 70- 84. 6Dachy G, de Krijger RR, Fraitag S, et al. Association of PDGFRB mutations with pediatric myofibroma and myofibromatosis. JAMA Dermatol. 2019; 155(8): 946- 950. 7Arts FA, Sciot R, Brichard B, et al. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. Hum Mol Genet. 2017; 26(10): 1801- 1810. 8Martignetti JA, Tian L, Li D, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013; 92(6): 1001- 1007. 9Cheung YH, Gayden T, Campeau PM, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013; 92(6): 996- 1000. 10Agaimy A, Bieg M, Michal M, et al. Recurrent somatic PDGFRB mutations in sporadic infantile/solitary adult myofibromas but not in angioleiomyomas and myopericytomas. Am J Surg Pathol. 2017; 41(2): 195- 203. 11Kalina JL, Neilson DS, Lin YY, et al. Mutational analysis of gene fusions predicts novel MHC class I-restricted T-cell epitopes and immune signatures in a subset of prostate cancer. Clin Cancer Res. 2017; 23(24): 7596- 7607. 12Sa JK, Lee IH, Hong SD, Kong DS, Nam DH. Genomic and transcriptomic characterization of skull base chordoma. Oncotarget. 2017; 8(1): 1321- 1328. 13Viaene AN, Zhang B, Martinez Lage M, et al. Transcriptome signatures associated with meningioma progression. Acta Neuropathol Commun. 2019; 7(1): 67. 14Lee E, Lee JW, Lee B, et al. Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma. BMC Med Genomics. 2020; 13(1): 171. 15Tsang ES, Grisdale CJ, Pleasance E, et al. Uncovering clinically relevant gene fusions with integrated genomic and transcriptomic profiling of metastatic cancers. Clin Cancer Res. 2021; 27(2): 522- 531. 16Zeller C, Hinzmann B, Seitz S, et al. SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is downregulated in breast cancer. Oncogene. 2003; 22(19): 2972- 2983. 17Jaufmann J, Franke FC, Sperlich A, et al. The emerging and diverse roles of the SLy/SASH1-protein family in health and disease - overview of three multifunctional proteins. FASEB J. 2021; 35(4):e21470. 18Franke FC, Muller J, Abal M, et al. The tumor suppressor SASH1 interacts with the signal adaptor CRKL to inhibit epithelial-mesenchymal transition and metastasis in colorectal cancer. Cell Mol Gastroenterol Hepatol. 2019; 7(1): 33- 53. 19Meng Q, Zheng M, Liu H, et al. SASH1 regulates proliferation, apoptosis, and invasion of osteosarcoma cell. Mol Cell Biochem. 2013; 373(1-2): 201- 210. 20Chen EG, Chen Y, Dong LL, Zhang JS. Effects of SASH1 on lung cancer cell proliferation, apoptosis, and invasion in vitro. Tumour Biol. 2012; 33(5): 1393- 1401. 21Martini M, Gnann A, Scheikl D, Holzmann B, Janssen KP. The candidate tumor suppressor SASH1 interacts with the actin cytoskeleton and stimulates cell-matrix adhesion. Int J Biochem Cell Biol. 2011; 43(11): 1630- 1640. 22Wang Y, Shang Y, Li J, et al. Specific Eph receptor-cytoplasmic effector signaling mediated by SAM–SAM domain interactions. Elife. 2018; 7:e35677. 23Li F, Xu Y, Liu RL. SAMD5 mRNA was overexpressed in prostate cancer and can predict biochemical recurrence after radical prostatectomy. Int Urol Nephrol. 2019; 51(3): 443- 451. Volume70, Issue6June 2023e30278 ReferencesRelatedInformation
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