Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

In conclusion, we report that somatic activating PIK3CA mutations can cause GLA, and we provide preclinical and clinical evidence to support the use of rapamycin for the treatment of this disabling and deadly disease.

Source: The Journal of Experimental Medicine - February 4, 2019 Category: Internal Medicine Authors: Rodriguez-Laguna, L., Agra, N., Ibanez, K., Oliva-Molina, G., Gordo, G., Khurana, N., Hominick, D., Beato, M., Colmenero, I., Herranz, G., Torres Canizalez, J. M., Rodriguez Pena, R., Vallespin, E., Martin-Arenas, R., del Pozo, A., Villaverde, C., Bustama Tags: Cardiovascular Biology, Human Disease Genetics Articles Source Type: research