Case Report: First report of a Wilms tumor in an individual with Dias–Logan syndrome (BCL11A-related intellectual disability) Journal Article
| Authors: | Troullioud Lucas, A. G.; Fiala, E.; Razeq, A.; Sauerhaft, T.; Price, A. P.; Mosquera, J. M.; Miyauchi, J.; Gao, M.; Walsh, M. F.; Ortiz, M. V. |
| Article Title: | Case Report: First report of a Wilms tumor in an individual with Dias–Logan syndrome (BCL11A-related intellectual disability) |
| Abstract: | Dias–Logan syndrome (DLS) is a rare condition caused by heterozygous germline BCL11A pathogenic variants associated with global developmental delay, distinctive facial features, and asymptomatic persistence of fetal hemoglobin. There has been no evidence of an association between DLS and increased risk of cancer. We report the first instance of a child with DLS diagnosed with cancer, a Wilms tumor (WT), who is notably much older than the typical onset. Although this case alone is insufficient to warrant routine WT screening in DLS, given the extreme rarity, we cannot rule out an association with DLS and WT predisposition. © 2025 Elsevier B.V., All rights reserved. |
| Keywords: | child; clinical article; event free survival; school child; gene sequence; methylation; genetics; case report; doxorubicin; cancer risk; cancer diagnosis; gene; computer assisted tomography; etoposide; cyclophosphamide; vincristine; histology; distant metastasis; radical nephrectomy; heterozygosity; echography; dactinomycin; nausea and vomiting; recurrent disease; headache; disease predisposition; genetic screening; cytogenetic analysis; chromosome 16q; nephroblastoma; chromosome 1p; eye pain; copy number variation; wilms tumor; muscle hypotonia; beckwith wiedemann syndrome; lymph vessel metastasis; cyclin dependent kinase inhibitor 1c; human; female; article; developmental delay; whole exome sequencing; bcl11a; intellectual impairment; dias–logan syndrome; apraxia of speech; bcl11a gene; dias logan syndrome |
| Journal Title: | Frontiers in Oncology |
| Volume: | 15 |
| ISSN: | 2234-943X |
| Publisher: | Frontiers Media S.A. |
| Date Published: | 2025-07-22 |
| Start Page: | 1585492 |
| Language: | English |
| DOI: | 10.3389/fonc.2025.1585492 |
| PROVIDER: | scopus |
| PMCID: | PMC12325027 |
| PUBMED: | 40772033 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledge in the PDF -- Corresponding authors is MSK author: Michael V. Ortiz -- Source: Scopus |
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