TSC1 and lymphangioleiomyomatosis: In the current study, although only 24.6% (15/61) of the LAM patients were absent of pathogenic or likely pathogenic TSC1/2 variants in their genomes, 47.5% (29/61) of them was considered as lack of detectable biallelic inactivation of TSC1/2, including 8 patients with single pathogenic or likely pathogenic TSC1/2 variants, 6 patients with one variant in TSC1 and the other in TSC2, and 15 patients without any detectable clinically relevant variants in TSC1/2.