Low expression of isocitrate dehydrogenase 1 (IDH1) R132H is associated with advanced pathological features in laryngeal squamous cell carcinoma

Introduction Recent developments in genomic sequencing have led to the identification of somatic mutations in isocitrate dehydrogenase 1 (IDH1) in various malignancies. IDH1 R132H is the most common mutation of IDH1, which affects codon 132 and results in the conversion of amino acid residue arginin...

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Published in:Journal of cancer research and clinical oncology 2023-07, Vol.149 (8), p.4253-4267
Main Authors: Shayanfar, Nasrin, Zare-Mirzaie, Ali, Mohammadpour, Mahsa, Jafari, Ensieh, Mehrtash, Amirhosein, Emtiazi, Nikoo, Tajik, Fatemeh
Format: Article
Language:English
Subjects:
Amino acids
Cancer Research
Clinical significance
Dehydrogenases
Exons
Hematology
Histidine
Immunohistochemistry
Internal Medicine
Isocitrate dehydrogenase
Laryngeal cancer
Laryngeal carcinoma
Lymph nodes
Malignancy
Medicine
Medicine & Public Health
Mutation
Oncology
Patients
Polymerase chain reaction
Squamous cell carcinoma
Statistical analysis
Tumor cells
Tumors
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Summary:Introduction Recent developments in genomic sequencing have led to the identification of somatic mutations in isocitrate dehydrogenase 1 (IDH1) in various malignancies. IDH1 R132H is the most common mutation of IDH1, which affects codon 132 and results in the conversion of amino acid residue arginine (R) to histidine (H). This study is designed to evaluate the association between the expression of IDH1 R132H and clinicopathological characteristics in laryngeal squamous cell carcinoma (LSCC). Methods The expression pattern and clinical significance of IDH1 R132H were investigated in tissue microarrays (TMAs) of 50 LSCC tumors as well as adjacent normal tissues using immunohistochemistry. Then the exons of the 12 tumor samples with negative/weak positive staining were sequenced by applying polymerase chain reaction (PCR). Results The results demonstrated that the cytoplasmic expression of IDH1 R132H was downregulated in tumor cells compared to adjacent normal tissues. A statistically significant association was found between a low level of cytoplasmic expression of IDH1 R132H protein and an increase in histological grade ( p  
ISSN:0171-5216
1432-1335
DOI:10.1007/s00432-022-04336-z