{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:57:44Z","timestamp":1773053864016,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T00:00:00Z","timestamp":1762560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T00:00:00Z","timestamp":1762560000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis 1 (NF1) is caused by pathogenic variants of the\n                    <jats:italic>NF1<\/jats:italic>\n                    gene and increases the risk of tumor development. Phyllodes tumors are rare fibroepithelial neoplasms of the breast, for which the malignant forms exhibit high recurrence and metastasis rates. Herein, we report the case of a 19\u2010year\u2010old female with NF1 who developed a malignant phyllodes tumor of the breast. She noticed a breast mass 3\u2009years before referral, which was diagnosed as a fibroadenoma. However, rapid tumor growth was observed 3\u2009months prior to her hospital visit. Magnetic resonance imaging of the breast revealed a 9\u2010cm tumor, and lumpectomy confirmed the malignancy. Recurrence necessitated a total mastectomy and pectoralis major resection. One year after surgery, metastases were detected in the left axillary lymph nodes and femoral head, requiring surgical intervention and denosumab treatment. No relapses were observed after 18\u2009months. Comprehensive genomic profiling revealed a germline\n                    <jats:italic>NF1<\/jats:italic>\n                    nonsense variant with loss of heterozygosity (LOH) in tumor cells. Additional somatic variants of\n                    <jats:italic>TP53<\/jats:italic>\n                    and\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    have been identified. The\n                    <jats:italic>TP53<\/jats:italic>\n                    variant is listed in the Catalogue of Somatic Variants in Cancer as a breast cancer\u2010associated variant, whereas a splice site variant in\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    and LOH suggests a loss of SMARCB1 function. This case highlights the increased risk of malignancy in\n                    <jats:italic>NF1<\/jats:italic>\n                    patients and underscores the need for comprehensive genomic profiling.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64305","type":"journal-article","created":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T08:51:21Z","timestamp":1762591881000},"page":"887-891","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2447-2857","authenticated-orcid":false,"given":"Akihisa","family":"Okumura","sequence":"first","affiliation":[{"name":"Department of Pediatrics Aichi Medical University  Nagakute Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimihito","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Breast and Endocrine Surgery Aichi Medical University  Nagakute Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1381-5818","authenticated-orcid":false,"given":"Hirokazu","family":"Kurahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Aichi Medical University  Nagakute Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shogo","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Breast and Endocrine Surgery Aichi Medical University  Nagakute Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/PO.24.00289"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1158\/1541\u20107786.MCR\u201014\u20100578"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djad085"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20651"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers14153645"},{"issue":"2","key":"e_1_2_9_7_1","first-page":"121","article-title":"Breast Lesions in Generalized Neurofibromatosis: Breast Cancer and Cystosarcoma Phylloides","volume":"2","author":"el\u2010Zawahry M. 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