Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry
Abstract
:1. Introduction
2. Case Presentation
2.1. Pedigree 1
2.2. Pedigree 2
3. Results
3.1. Histological Examination
3.2. Mutation Screening
3.3. SELDI-TOF MS
4. Discussion
5. Materials and Methods
5.1. Mutation Screening
5.2. Serum Protein Profiling by SELDI-TOF/MS
5.3. Statistical Analysis
6. Conclusion
- ConsentWritten informed consent was obtained from the patient and the patient’s husband before death representatively of her family members for publication of this case report and accompanying images.
- Authors’ ContributionsTakao Kamai initiated the study, participated in its design and coordination, carried out the study, and drafted the manuscript. Naohisa Tomosugi carried out the mass spectrometry study. Takao Kamai, Hideyuki Abe, and Yasushi Kaji carried out the radiological study. Takao Kamai and Tetsunari Oyama carried out the pathological study. Ken-Ichiro Yoshida participated in the design of the study and helped to draft the manuscript. All authors read and approved the final manuscript.
- Conflict of InterestThe authors declare no conflict of interest.
Abbreviations
HLRCC | Hereditary Leiomyomatosis and Renal Cell Cancer |
FH | fumarate hydratase |
References
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Peaks in HLRCC | m/z | Healthy control (n = 2) | HLRCC of pedigree 1 (n = 5) | p value | ROC area | ||
---|---|---|---|---|---|---|---|
mean ± SD | 95% CI | mean ± SD | 95% CI | ||||
up-regulated | 5,855 | 4.277 ± 0.520 | 0.330 | 8.517 ± 4.300 | 5.339 | 0.004 | 0.95 |
6,671 | 50623 ± 1.266 | 0.805 | 9.637 ± 1.761 | 2.187 | 0.003 | 0.95 | |
14,484 | 1.603 ± 0.222 | 0.141 | 2.714 ± 1.219 | 1.514 | 0.003 | 0.95 | |
11,940 | 1.840 ± 0.314 | 0.199 | 3.396 ± 1.679 | 2.084 | 0.011 | 0.85 | |
down-regulated | 3239 | 6.589 ± 4.529 | 2.877 | 0.843 ± 0.434 | 0.538 | 0.002 | 0.98 |
3,743 | 3.785 ± 2.778 | 1.765 | 0.429 ± 0.184 | 0.229 | 0.002 | 0.98 | |
3,927 | 37.245 ± 26.749 | 16.996 | 0.175 ± 0.058 | 0.177 | 0.002 | 0.98 | |
3,945 | 15.475 ± 11.430 | 7.262 | 0.847 ± 0.641 | 0.859 | 0.002 | 0.98 | |
4,257 | 21.837 ± 12.996 | 8.257 | 0.297 ±0.320 | 0.398 | 0.002 | 0.98 | |
4,626 | 18.029 ± 3.370 | 2.141 | 3.620 ± 1.908 | 2.369 | 0.002 | 0.98 | |
5,044 | 20.584 ± 5.844 | 3.713 | 0.360 ± 0.338 | 0.419 | 0.002 | 0.98 | |
7,760 | 85.036 ± 21.119 | 13.418 | 6.305 ± 10.962 | 13.611 | 0.002 | 0.98 | |
7,825 | 4.868 ± 1.212 | 0.771 | 0.717 ± 0.432 | 0.536 | 0.002 | 0.98 | |
7,916 | 4.699 ±1.146 | 0.728 | 0.621 ± 0.511 | 0.635 | 0.002 | 0.98 | |
7,965 | 7.789 ± 1.861 | 1.182 | 1.002 ± 1.138 | 1.414 | 0.002 | 0.98 | |
8,137 | 17.275 ± 4.321 | 2.745 | 2.071 ± 1.848 | 2.295 | 0.002 | 0.98 | |
9,287 | 74.914 ± 17.311 | 10.999 | 12.774 ± 10.948 | 13.594 | 0.002 | 0.98 | |
9,491 | 10.193 ± 1.988 | 1.263 | 3.543 ± 1.764 | 2.190 | 0.002 | 0.98 | |
9,418 | 7.693 ± 2.733 | 1.762 | 4.088 ± 0.898 | 1.116 | 0.003 | 0.93 | |
13,881 | 5.568 ± 1.154 | 0.733 | 3.653 ± 0.873 | 1.085 | 0.006 | 0.93 | |
4,188 | 7.414 ± 2.517 | 1.599 | 3.472 ± 3.244 | 4.028 | 0.020 | 0.88 | |
9,087 | 9.829 ± 4.014 | 2.550 | 5.559 ± 0.827 | 1.027 | 0.015 | 0.88 | |
10,259 | 5.537 ± 3.738 | 2.375 | 1.370 ± 1.296 | 1.610 | 0.011 | 0.88 | |
3,864 | 11.781 ± 3.558 | 2.261 | 6.636 ± 2.746 | 3.410 | 0.035 | 0.83 | |
4,279 | 7.455 ± 4.752 | 3.019 | 2.944 ± 1.901 | 2.360 | 0.020 | 0.83 | |
13,881 | 5.568 ± 1.154 | 0.733 | 3.653 ± 0.873 | 1.085 | 0.006 | 0.93 | |
4,188 | 7.414 ± 2.517 | 1.599 | 3.472 ± 3.244 | 4.028 | 0.020 | 0.88 | |
9,087 | 9.829 ± 4.014 | 2.550 | 5.559 ± 0.827 | 1.027 | 0.015 | 0.88 | |
10,259 | 5.537 ± 3.738 | 2.375 | 1.370 ± 1.296 | 1.610 | 0.011 | 0.88 | |
3,864 | 11.781 ± 3.558 | 2.261 | 6.636 ± 2.746 | 3.410 | 0.035 | 0.83 | |
4,279 | 7.455 ± 4.752 | 3.019 | 2.944 ± 1.901 | 2.360 | 0.020 | 0.83 |
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Kamai, T.; Tomosugi, N.; Abe, H.; Kaji, Y.; Oyama, T.; Yoshida, K.-I. Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. Int. J. Mol. Sci. 2012, 13, 14518-14532. https://doi.org/10.3390/ijms131114518
Kamai T, Tomosugi N, Abe H, Kaji Y, Oyama T, Yoshida K-I. Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. International Journal of Molecular Sciences. 2012; 13(11):14518-14532. https://doi.org/10.3390/ijms131114518
Chicago/Turabian StyleKamai, Takao, Naohisa Tomosugi, Hideyuki Abe, Yasushi Kaji, Tetsunari Oyama, and Ken-Ichiro Yoshida. 2012. "Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry" International Journal of Molecular Sciences 13, no. 11: 14518-14532. https://doi.org/10.3390/ijms131114518