Case Report of a Glioma Patient with Homozygous Missense Amino Acid Substitution in KDR Gene
Abstract: Gliomas are the most commonly seen cancers of the central nervous system with a variable genetic predisposition. Here, we report a homozygous missense variant in the KDR gene in a patient with recurrent glioma. The 35-year-old male patient was diagnosed with stage IV glioma with a recurrence after 10 years from a low-grade stage two glioma. The patient underwent a repeat right craniotomy and ventriculoperitoneal shunt placement. Biopsy of the lesion showed areas of necrosis with microvascular proliferation and multinucleated tumor cells. An in-depth analysis of NGS data comprising a multigene panel of 351 genes (Agilent Cancer Core Panel) found a homozygous missense variant in exon 25 of the KDR gene that resulted in a substitution of an amino acid glutamine for arginine at codon 1118. The KDR gene or VEGF2 receptor is a type III receptor tyrosine kinase of the VEGF gene involved in angiogenesis. We hypothesize that the variation in the KDR gene may have a role in the patient's transition from grade II to grade IV glioma. While the clinical relevance of this mutation is not clear, screening mutations in the protein tyrosine and serine/threonine kinase domain of the KDR will provide critical insights into the development and progression of glioma in the pediatric and adult populations.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Case Report of a Glioma Patient with Homozygous Missense Amino Acid Substitution in KDR Gene ; volume:44 ; number:03 ; year:2023 ; pages:356-359
Indian journal of medical & paediatric oncology ; 44, Heft 03 (2023), 356-359
- Contributor
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Uppaluri, Kalyan Ram
Kambalachenu, Himavanth Reddy
Challa, Hima Jyothi
Y., Saadvik Raghuram
Sharma, Deepak
Gadicherla, Ramya
Ketavath, Srinivas
Palasamudram, Kalyani
K., Sri Manjari
- DOI
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10.1055/s-0043-1762919
- URN
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urn:nbn:de:101:1-2023062911453132538576
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:49 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Uppaluri, Kalyan Ram
- Kambalachenu, Himavanth Reddy
- Challa, Hima Jyothi
- Y., Saadvik Raghuram
- Sharma, Deepak
- Gadicherla, Ramya
- Ketavath, Srinivas
- Palasamudram, Kalyani
- K., Sri Manjari
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