Table · dataset · 2026
Table 1_Case Report: DICER1 mutation-associated anaplastic sarcoma of the kidney in a child.docx
Listed in figshare and Loughborough Research Repository — shown once because both records carry DOI 10.3389/fonc.2026.1863816.s001
<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.
Description
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.
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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>
Links
Where it is published
- DOI doi.org/10.3389/fonc.2026.1863816.s001 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Humanities · Humanities · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Psychology & Behavioral Science · Social Science · Social Science
- Inferred from text
- Cancer 65% · Oncology and carcinogenesis 69% · Tabular 65%
Provenance · 2 source records, 31 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/33994455 | 12 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/33994455 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[disease].local:disease:cancer | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[field].anzsrc:group:3211 | enrichment · figshare com | taxonomy-embedding@1.0.0 | title+keywords+description (69%) |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[modality].local:modality:tabular | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (65%) |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |