{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T17:07:38Z","timestamp":1784740058554,"version":"3.55.0"},"reference-count":31,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T00:00:00Z","timestamp":1757635200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Mycosis fungoides (MF) is a rare cutaneous T-cell lymphoma (CTCL) that presents clinically on the skin as patches, plaques, or tumors. MF often mimics benign inflammatory conditions which leads to difficult and delayed diagnosis, worsening prognosis despite available treatment options. This study seeks to improve diagnosis and identify potential therapeutic targets by better characterizing MF\u2019s genetic landscape using the AACR Project GENIE dataset. Methods: Retrospective analysis of MF cases was conducted using the AACR Project GENIE database accessed from cBioPortal (v17.0-public) on 5 June 2025. Data analysis included identifying recurrent somatic mutations, assessing patterns of mutation co-occurrence and mutual exclusivity using non-parametric tests with Benjamini\u2013Hochberg False Discovery Rate (FDR) correction, and examining enrichment of specific mutations based on sex and race, with significance of p &lt; 0.05. Results: Recurrent alterations included FAT1 (28.2%), KMT2D (19.2%), TP53 (13.5%), JAK3 (11.5%), and SETBP1 (11.5%), highlighting the role of Wnt signaling, epigenetic dysregulation, the p53 pathway, and JAK\/STAT signaling in MF pathogenesis. Mutations with significant co-occurrence and enrichment in White, Black, and Asian populations were identified. Conclusions: The findings of this study provide a comprehensive understanding of MF\u2019s molecular profile. The discovery of commonly mutated pathways (Wnt, p53, JAK\/STAT, and epigenetic regulators) suggests potential targets for the development of future therapies. Furthermore, the enrichment of certain mutations based on race and patterns of alteration co-occurrence offer possibilities for patient-tailored treatment approaches.<\/jats:p>","DOI":"10.3390\/cancers17182984","type":"journal-article","created":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T09:07:15Z","timestamp":1757668035000},"page":"2984","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Integrative Mutational Landscape of Mycosis Fungoides Using a National Genomics Repository"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1993-9554","authenticated-orcid":false,"given":"Grace S.","family":"Saglimbeni","sequence":"first","affiliation":[{"name":"Department of Hematology and Oncology, Creighton University School of Medicine, Phoenix, AZ 85012, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6403-502X","authenticated-orcid":false,"given":"Beau","family":"Hsia","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Creighton University School of Medicine, Phoenix, AZ 85012, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T.","family":"Silberstein","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Internal Medicine, Creighton University Medical Center, Omaha, NE 68124, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abubakar","family":"Tauseef","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Internal Medicine, Creighton University Medical Center, Omaha, NE 68124, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1053\/j.semdp.2016.11.002","article-title":"A new molecular paradigm in mycosis fungoides and S\u00e9zary syndrome","volume":"34","author":"Wilcox","year":"2017","journal-title":"Semin. 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