دورية أكاديمية
PMEL is a predictive biomarker for mTORC1 inhibitor treatment of renal angiomyolipoma in tuberous sclerosis complex patients
| العنوان: | PMEL is a predictive biomarker for mTORC1 inhibitor treatment of renal angiomyolipoma in tuberous sclerosis complex patients |
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| المؤلفون: | Dongxu Qiu, Zhan Wang, Xu Wang, Yutao Wang, Wenda Wang, Yushi Zhang |
| المصدر: | Heliyon, Vol 10, Iss 15, Pp e34937- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Science (General) LCC:Social sciences (General) |
| مصطلحات موضوعية: | PMEL, Tuberous sclerosis complex, Renal angiomyolipoma, Treatment efficacy prediction, Science (General), Q1-390, Social sciences (General), H1-99 |
| الوصف: | Background: We aimed to demonstrate the function of premelanosome protein (PMEL) as a biomarker to predict the effectiveness of mammalian target of rapamycin complex 1 (mTORC1) inhibitor treatment in renal angiomyolipomas (RAMLs) in tuberous sclerosis complex (TSC) patients. Methods: 95 whole blood samples from 49 patients diagnosed with TSC-RAMLs were collected. PMEL, N4BP2, and PCSK1N expression in the plasma samples were tested by quantitative sandwich ELISA. The target tumor volume assessed by maximum cross-sectional area (CSAmax) in CT scans. Correlation analysis was used to determine the relationship between PMEL expression and target tumors, as well as the tumor reduction rate. Results: The tumor size of TSC-RAMLs positivity correlated with PMEL expression (r = 0.30, p = 0.036) and PCSK1N expression (r = 0.23, p = 0.027), but had no significant relationship with N4BP2 (r = 0.06, p = 0.89). The positive correlation between TSC-RAML tumor volume and PMEL expression still existed in TSC patients before (r = 0.30, p = 0.026) and after mTORC1 inhibitor treatment (r = 0.41, p = 0.0017), but the correlation between tumor volume and PCSK1N expression no longer existed. Further analysis found that PMEL expression negatively correlated with the reduction rate of TSC-RAMLs after mTORC1 inhibitor treatment (r = −0.50, p = 0.0022), both after 3 months (r = −0.47, p = 0.048) and 6 months of treatment (r = −0.52, p = 0.028). Conclusion: PMEL expression positively correlated with the tumor size of TSC-RAMLs, and inversely with the reduction rate of TSC-RAMLs after mTORC1 inhibitor treatment, which may suggest that PMEL may serve as a predictive biomarker for the efficacy of mTORC1 inhibitor treatment. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2405-8440 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2405844024109681; https://doaj.org/toc/2405-8440 |
| DOI: | 10.1016/j.heliyon.2024.e34937 |
| URL الوصول: | https://doaj.org/article/97f12ecf2eb74843aca16e76affaf4c6 |
| رقم الأكسشن: | edsdoj.97f12ecf2eb74843aca16e76affaf4c6 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 24058440 |
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| DOI: | 10.1016/j.heliyon.2024.e34937 |