{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T06:24:24Z","timestamp":1789885464750,"version":"4.0.1"},"reference-count":23,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T00:00:00Z","timestamp":1524700800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004853","name":"Chinese University of Hong Kong","doi-asserted-by":"publisher","award":["#2016.095"],"award-info":[{"award-number":["#2016.095"]}],"id":[{"id":"10.13039\/501100004853","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["T12-401\/13-R"],"award-info":[{"award-number":["T12-401\/13-R"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["#1711484"],"award-info":[{"award-number":["#1711484"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["#17121616"],"award-info":[{"award-number":["#17121616"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013515","name":"Hong Kong Cancer Fund","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013515","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Dr Stanley Ho Medical Foundation"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Soft tissue sarcoma of the tongue represents a very rare head and neck cancer with connective tissue features, and the genetics underlying this rare cancer are largely unknown. There are less than 20 cases reported in the literature thus far. Here, we reported the first whole-exome characterization (&gt;\u00d7200 depth) of an undifferentiated sarcoma of the tongue in a 31-year-old male. Even with a very good sequencing depth, only 19 nonsynonymous mutations were found, indicating a relatively low mutation rate of this rare cancer (lower than that of human papillomavirus (HPV)-positive head and neck cancer). Yet, among the few genes that are somatically mutated in this HPV-negative undifferentiated tongue sarcoma, a noticeable deleterious frameshift mutation (with a very high allele frequency of &gt;93%) of a gene for DNA replication and repair, namely\n                    <ns4:italic>POLDIP2<\/ns4:italic>\n                    (DNA polymerase delta interacting protein 2), and two recurrent mutations of the adipogenesis and adipocyte differentiation gene\n                    <ns4:italic>RETSAT<\/ns4:italic>\n                    (retinol saturase), were identified. Thus, somatic events likely affecting adipogenesis and differentiation, as well as potential stem mutations to\n                    <ns4:italic>POLDIP2<\/ns4:italic>\n                    , may be implicated in the formation of this rare cancer. This identified somatic whole-exome sequencing profile appears to be distinct from that of other reported adult sarcomas from The Cancer Genome Atlas, suggesting a potential unique genetic profile for this rare sarcoma of the tongue. Interestingly, this low somatic mutation rate is unexpectedly found to be accompanied by multiple tumor protein p53 and\n                    <ns4:italic>NOTCH1<\/ns4:italic>\n                    germline mutations of the patient\u2019s blood DNA. This may explain the very early age of onset of head and neck cancer, with likely hereditary predisposition. Our findings are, to our knowledge, the first to reveal a unique genetic profile of this very rare undifferentiated sarcoma of the tongue.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.14383.1","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T07:15:07Z","timestamp":1524726907000},"page":"499","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma"],"prefix":"10.12688","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9480-4637","authenticated-orcid":false,"given":"Jason Y. K.","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peony Hiu Yan","family":"Poon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4436-5154","authenticated-orcid":false,"given":"Cherrie W. K.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen Ying","family":"Piao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin Y.","family":"Yip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy B. W.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian Wai Yan","family":"Lui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2018,4,26]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"94-109","DOI":"10.3322\/canjclin.54.2.94","article-title":"Soft tissue sarcomas.","volume":"54","author":"J Cormier","year":"2004","journal-title":"CA Cancer J Clin."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"627-633","DOI":"10.1177\/0194599814545747","article-title":"Head and neck sarcomas: analysis of the SEER database.","volume":"151","author":"K Peng","year":"2014","journal-title":"Otolaryngol Head Neck Surg."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"690-695","DOI":"10.1002\/jso.23868","article-title":"Soft tissue sarcoma of the head & neck: nomogram validation and 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status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.15650.r33489, Tsung Lin Yang, Department of Otolaryngology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan, 08 May 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-499\/v1#referee-response-33489","order":0,"name":"referee-response-33489","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.15650.r33531, Marietta Tan, Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA, 15 May 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-499\/v1#referee-response-33531","order":1,"name":"referee-response-33531","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.15650.r34003, Robin L. Jones, Sarcoma Unit, Royal Marsden Hospital, London, UK, 11 Jul 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-499\/v1#referee-response-34003","order":2,"name":"referee-response-34003","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Dr Stanley Ho Medical Foundation (to JYKC); General Research Fund from the Research Grant Council, Hong Kong (#1711484 and #17121616 to VWYL); Theme-based Research from the Research Grant Council, Hong Kong (T12-401\/13-R to VWYL); Hong Kong Cancer Fund (to VWYL); and the Direct Grant for Research (#2016.095), the Chinese University of Hong Kong (to VWYL and JYKC). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}