{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T05:50:29Z","timestamp":1777009829515,"version":"3.51.4"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T00:00:00Z","timestamp":1774742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T00:00:00Z","timestamp":1774742400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K16650"],"award-info":[{"award-number":["21K16650"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Intramuscular myxoma (IM) is a benign tumor that harbors\n                      <jats:italic>GNAS<\/jats:italic>\n                      missense variants. Distinguishing IM from low\u2010grade myxofibrosarcoma (LGMFS) is challenging due to similarities in imaging and histological features. While molecular analysis aids differentiation, the low number of tumor cells available for DNA extraction necessitates highly accurate detection methods for variant identification. The aim of this study was to delineate molecular characteristics using next\u2010generation sequencing (NGS) and to propose an optimal screening method in a clinical setting to differentiate IM from LGMFS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials<\/jats:title>\n                    <jats:p>Ten IM cases and nine LGMFS cases with extractable DNA from FFPE samples were recruited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A custom NGS panel\u2010based analysis for\n                      <jats:italic>GNAS<\/jats:italic>\n                      revealed R201C\/R201H variants in resected samples of eight cases with IM and in none of the eight cases, excluding one with insufficient sample quality, with LGMFS, and in biopsy samples of both available cases with IM. Additionally, various sequence alterations were detected irrespective of the clinical status (IM, LGMFS, and normal tissue) or sample conditions (resected, biopsy, and relapsed). The detection rate of\n                      <jats:italic>GNAS<\/jats:italic>\n                      \u2010positive IM using other methods (PCR\u2010direct sequencing, fragment signal analysis using restriction digestion and capillary electrophoresis after PCR combined with peptide nucleic acid (PNA) clamping, and PCR\u2010direct sequencing combined with PNA clamping) was calculated as 0.42, 0.83, and 0.75, respectively, while the detection rate for GNAS\u2010negative LGMFS was 1.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings suggest that fragment signal analysis is a reasonable diagnostic approach for differentiating IM from LGMFS. However, it is important to recognize that the absence of GNAS R201C\/R201H variants does not rule out IM.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cam4.71751","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T04:18:03Z","timestamp":1774844283000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Characterization and Its Clinical Application of\n                    <scp>\n                      <i>GNAS<\/i>\n                    <\/scp>\n                    Variants in Intramuscular Myxoma"],"prefix":"10.1002","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4256-670X","authenticated-orcid":false,"given":"Munehisa","family":"Kito","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery Shinshu University School of Medicine  Nagano 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