2026-10-14T06:49:24Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33994455 2026-09-25T10:02:27Z category_388 portal_316 item_type_3 month_year_09_2026

Table 1_Case Report: DICER1 mutation-associated anaplastic sarcoma of the kidney in a child.docx Meng Li (79487) Guoqian He (14155011) Xia Guo (486444) Ju Gao (160939) Cheng-qi Shen (21390662) Oncology and Carcinogenesis not elsewhere classified anaplastic sarcoma of the kidney case report childhood cancer DICER1 mutation renal sarcoma <p>DICER1 syndrome is a hereditary tumor predisposition syndrome caused by pathogenic germline variants in DICER1 and is characterized by multi-organ susceptibility; sarcomas remain uncommon within this spectrum. We report a 2-year-old girl with anaplastic sarcoma of the kidney (ASK). Molecular testing identified a germline DICER1 c.3300dupA frameshift variant (p.S1101Ifs*3), inherited from her father, and a tumor-associated c.5125G>A missense variant (p.D1709N). The child had neonatal hypothyroidism and language developmental delay. She underwent complete tumor resection followed by 27 weeks of chemotherapy using a Stage I clear cell sarcoma of the kidney (CCSK)-based regimen. At the most recent follow-up, she was 3 years off therapy with no evidence of tumor recurrence or distant metastasis. This case adds to the limited clinicopathologic and molecular descriptions of DICER1-associated ASK and supports integrated histopathologic and molecular evaluation, familial DICER1 assessment, genetic counseling, and long-term syndrome-directed surveillance.</p> 2026-09-25T10:02:27Z Dataset Dataset 10.3389/fonc.2026.1863816.s001 https://figshare.com/articles/dataset/Table_1_Case_Report_DICER1_mutation-associated_anaplastic_sarcoma_of_the_kidney_in_a_child_docx/33994455 CC BY 4.0