Study On The Effect Of Everolimus In The Treatment Of Renal Angiomyolipoma With Two New TSC2 Mutations

Renal angiomyolipoma patients(AML)has relatively low quality of life.Studies have shown that some genetic mutations including TSC2 gene mutation may exist in some patients with renal angiomyolipoma(AML).In the present study,we confirmed for the first time that there are mutations of c.2652 C > A and c.2688 G > A in a Chinese patient by gene sequencing of biopsy tissues of patients.These two somatic cell mutations can cause TSC2 translation to stop,thus activating m TORC1 pathway.Considering that activation of m TORC1 can cause cell proliferation and survival,we used everolimus,an FDA-approved m TORC1 inhibitor,on this female patient.After several months of treatment,CT scan results showed that everolimus could effectively inhibit tumor growth and distant metastasis,and the patient achieved complete relief(according to RECIST version 1.1,the evaluation standard for solid tumor efficacy).Subsequent blood routine test reports showed that the number of red blood cells,white blood cells,platelets,hemoglobin concentration and red blood cell volume significantly returned to normal levels.This showed that everolimus is significantly effective for patients with these two TSC2 gene mutations.