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CC BY 4.0 · Indian J Med Paediatr Oncol 2023; 44(03): 356-359
DOI: 10.1055/s-0043-1762919
Case Report with Review of Literature

Case Report of a Glioma Patient with Homozygous Missense Amino Acid Substitution in KDR Gene

Kalyan Ram Uppaluri
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Himavanth Reddy Kambalachenu
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Hima Jyothi Challa
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Saadvik Raghuram Y.
2   Medicover Cancer Institute, Madhapur, Hyderabad, Telangana, India
,
Deepak Sharma
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Ramya Gadicherla
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Srinivas Ketavath
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Kalyani Palasamudram
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
,
Sri Manjari K. 
1   GenepoweRx, Suit #2B, Plot No. 240, Nirvana, Road No. 36, Jawahar Colony, Jubilee Hills, Hyderabad, Telangana, India
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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.

Keywords

glioma - Protein Kinase - KDR

Authors' Contributions

All authors have contributed and approved the manuscript.


Patient consent

The authors certify that they have obtained all appropriate patient consent forms


Statement of Ethics

This retrospective review of patient data did not require ethical approval under local guidelines. Written informed consent was obtained from the patient to publish this case report.


Supplementary Material



Publication History

Article published online:
12 May 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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