Volume 83, Issue 4 (July 2025)
Tehran Univ Med J 2025, 83(4): 269-276 |
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Pouladzadeh M, Khazaei F, Bitaraf S, Karimpourian H, Mombeyni M, Mahmoudian-Sani M. Diagnostic value of the long non-coding RNA KCNQ1OT1
in the detection of breast cancer. Tehran Univ Med J 2025; 83 (4) :269-276
URL: http://tumj.tums.ac.ir/article-1-13570-en.html
URL: http://tumj.tums.ac.ir/article-1-13570-en.html
Mandana Pouladzadeh1 
, Fatemeh Khazaei2 , Saeid Bitaraf3 , Hossein Karimpourian4 , Mahsa Mombeyni4 , Mohammad-Reza Mahmoudian-Sani4
, Fatemeh Khazaei2 , Saeid Bitaraf3 , Hossein Karimpourian4 , Mahsa Mombeyni4 , Mohammad-Reza Mahmoudian-Sani4
1- Department of Emergency Medicine, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
2- Clinical Research Development Unit, Golestan Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
3- Department of Community Medicine, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
4- Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
2- Clinical Research Development Unit, Golestan Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
3- Department of Community Medicine, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
4- Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Abstract: (539 Views)
Background: Breast cancer is the most prevalent malignancy among women and remains a leading cause of cancer-related mortality worldwide. Early detection can markedly improve patient survival, yet existing screening methods often lack sufficient accuracy and sensitivity. lncRNA KCNQ1OT1 has been implicated in the initiation and progression of tumors in several cancers, including breast cancer. This study aimed to evaluate the diagnostic potential of serum lncRNA KCNQ1OT1 expression as a biomarker for early detection of breast cancer.
Methods: This case-control study was conducted at Ahvaz Jundishapur University of Medical Sciences, Shafa Hospital, Ahvaz, Iran, between September 2024 and March 2025. Serum samples were obtained from 30 patients with histologically confirmed breast cancer and 30 healthy women serving as controls. Total RNA was extracted from 500 µL of serum, and cDNA was synthesized using oligo (dT) primers. Real-Time PCR was performed in triplicate, with GAPDH as the internal control. Relative gene expression was calculated using the 2^-ΔΔCt method, and data were analyzed using the Mann-Whitney U test and ROC analysis.
Results: The patient and control groups were homogeneous for most demographic parameters, but showed significant differences in age (P=0.023) and ethnicity (P=0.004). Most patients were in stage I of the disease. The median expression of serum KCNQ1OT1 was significantly lower in patients (0.024, IQR 0.013-0.033) than in controls (0.039, IQR 0.027-0.051), indicating marked downregulation in the patient group (P=0.0003). The ROC analysis yielded an AUC of 0.82 (95% CI: 0.67-0.96, SE=0.07, P=0.0005). At an optimal cutoff value of >0.031, the sensitivity was 70%, the specificity was 95%, and the positive likelihood ratio (LR⁺) ≈ was approximately 14, demonstrating strong discriminative ability.
Conclusion: Serum KCNQ1OT1 exhibits promising diagnostic performance for identifying early-stage breast cancer and may serve as a reliable noninvasive biomarker. Larger multicenter studies incorporating molecular subtyping and tissue correlation are required to validate its clinical applicability and strengthen diagnostic accuracy.
Methods: This case-control study was conducted at Ahvaz Jundishapur University of Medical Sciences, Shafa Hospital, Ahvaz, Iran, between September 2024 and March 2025. Serum samples were obtained from 30 patients with histologically confirmed breast cancer and 30 healthy women serving as controls. Total RNA was extracted from 500 µL of serum, and cDNA was synthesized using oligo (dT) primers. Real-Time PCR was performed in triplicate, with GAPDH as the internal control. Relative gene expression was calculated using the 2^-ΔΔCt method, and data were analyzed using the Mann-Whitney U test and ROC analysis.
Results: The patient and control groups were homogeneous for most demographic parameters, but showed significant differences in age (P=0.023) and ethnicity (P=0.004). Most patients were in stage I of the disease. The median expression of serum KCNQ1OT1 was significantly lower in patients (0.024, IQR 0.013-0.033) than in controls (0.039, IQR 0.027-0.051), indicating marked downregulation in the patient group (P=0.0003). The ROC analysis yielded an AUC of 0.82 (95% CI: 0.67-0.96, SE=0.07, P=0.0005). At an optimal cutoff value of >0.031, the sensitivity was 70%, the specificity was 95%, and the positive likelihood ratio (LR⁺) ≈ was approximately 14, demonstrating strong discriminative ability.
Conclusion: Serum KCNQ1OT1 exhibits promising diagnostic performance for identifying early-stage breast cancer and may serve as a reliable noninvasive biomarker. Larger multicenter studies incorporating molecular subtyping and tissue correlation are required to validate its clinical applicability and strengthen diagnostic accuracy.
Type of Study: Original Article |
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