Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria
Abstract
We report a male infant with L-2-hydroxyglutaric aciduria and Wilms tumor. L-2-hydroxyglutaric aciduria is a rare, autosomal-recessive, inborn error of metabolism characterized by a variable degree of progressive encephalopathy. Of the fewer than 100 cases reported in the literature, at least 9 patients have developed tumors of the central nervous system. To our knowledge, the present case is the 1st example of an extracranial tumor associated with L-2-hydroxyglutaric aciduria. This observation potentially widens the tumor spectrum in this metabolic disorder and may lead to further insight into the relationship between L-2-hydroxyglutaric acid and cellular transformation.
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Patients with L-2-HGA are affected by tumors, including brain tumors, bone tumors, and nephroblastoma (Wilms tumor).
“Interestingly, patients with L-2-HGA are affected by tumors, including brain tumors93, bone tumors94, and nephroblastoma (Wilms tumor)95.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [95]
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- Authors
- Rogers, R. E., DeBerardinis, R. J., Klesse, L. J., Boriack, R. L., Margraf, L. R., & Rakheja, D.
- Affiliations
- Children's Medical Center (US)
- Corresponding author
- Rakheja, DINESH
- Venue
- Pediatric and Developmental Pathology
- Publisher
- SAGE Publications
- Published
- 2010-09
- Volume
- 13
- Issue
- 5
- Pages
- 408-411
- ISSN
- 1093-5266 (ISSN-L)
- 1615-5742
- OpenAlex
- W1992766757
- Cited by
- 29
- References
- 26
- Citations by year
- 2026: 2 · 2024: 3 · 2023: 1 · 2022: 2 · 2020: 4 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 3 · 2012: 3
- FWCI
- 1.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Pediatric and Developmental Pathology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Renal and related cancers
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- L-2-hydroxyglutaric aciduria, Wilms tumor, inborn errors of metabolism, extracranial tumors, encephalopathy, autosomal recessive disorder, tumor spectrum, cell transformation, infants
- MeSH terms
- Antineoplastic Combined Chemotherapy Protocols, Dactinomycin, Humans, Infant, Kidney Neoplasms, Male, Nephrectomy, Wilms Tumor, Vincristine, Brain Diseases, Metabolic, Inborn
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