A comprehensive landscape of TSC1/2 genetic alterations leading to the tumorigenesis of LAM were identified, including single-nucleotide variants (SNVs), small insertions or deletions (indels), copy number variants (CNVs), and regions of copy-neutral loss-of-heterozygosity (CN-LOH), with more than one-third of the variants being novel mutations. This evidence concerns the gene TSC1 and lymphangioleiomyomatosis.