Analyses of mutational status in fumarate hydratase (FH) as well as Mediator Complex Subunit 12 (MED12) confirmed that all suspected HLRCC patients exhibited a hotspot mutation or insertion/deletion (indel) event in the gene encoding FH, except patient 1805, in which a deletion (c.124_135del:p.42_45del) was found in exon2 of MED12 (Fig. 1, Supplemental Table 2). Here, MED12 is linked to hereditary leiomyomatosis and renal cell cancer.