دورية
Genomic profiling informs diagnoses and treatment in vascular anomalies
| العنوان: | Genomic profiling informs diagnoses and treatment in vascular anomalies |
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| المؤلفون: | Li, Dong, Sheppard, Sarah E., March, Michael E., Battig, Mark R., Surrey, Lea F., Srinivasan, Abhay S., Matsuoka, Leticia S., Tian, Lifeng, Wang, Fengxiang, Seiler, Christoph, Dayneka, Jill, Borst, Alexandra J., Matos, Mary C., Paulissen, Scott M., Krishnamurthy, Ganesh, Nriagu, Bede, Sikder, Tamjeed, Casey, Melissa, Williams, Lydia, Rangu, Sneha, O’Connor, Nora, Thomas, Alexandria, Pinto, Erin, Hou, Cuiping, Nguyen, Kenny, Pellegrino da Silva, Renata, Chehimi, Samar N., Kao, Charlly, Biroc, Lauren, Britt, Allison D., Queenan, Maria, Reid, Janet R., Napoli, Joseph A., Low, David M., Vatsky, Seth, Treat, James, Smith, Christopher L., Cahill, Anne Marie, Snyder, Kristen M., Adams, Denise M., Dori, Yoav, Hakonarson, Hakon |
| المصدر: | Nature Medicine; 20240101, Issue: Preprints p1-10, 10p |
| مستخلص: | Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype–phenotype associations and guide medical therapy in individuals with vascular anomalies. |
| قاعدة البيانات: | Supplemental Index |
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Full Text Finder | تدمد: | 10788956 1546170X |
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| DOI: | 10.1038/s41591-023-02364-x |