Table 1. FH and MED12 mutation status of 21 uterine leiomyomas from four HLRCC patients with at least one MED12 mutation-positive tumour.

Patient	Tissue material	Germ-line FH mutation	MED12 mutation status	2SC IHC
B3	FFPE	c.671_672delAG, p.E224fs	Wt	+
	FFPE	c.671_672delAG, p.E224fs	c.131G>A, p.G44D	−
	FFPE	c.671_672delAG, p.E224fs	Wt	+
B7	Fresh frozen	c.671_672delAG, p.E224fs	c.113-160del48, p.A38_G53del	−
	Fresh frozen	c.671_672delAG, p.E224fs	Wt	+
	Fresh frozen	c.671_672delAG, p.E224fs	Wt	+
	Fresh frozen	c.671_672delAG, p.E224fs	Wt	+
	Fresh frozen	c.671_672delAG, p.E224fs	Wt	+
	Fresh frozen	c.671_672delAG, p.E224fs	Wt	+
E1	FFPE	c.587A>G, p.H196R	Wt	+
	FFPE	c.587A>G, p.H196R	Wt	+
	FFPE	c.587A>G, p.H196R	Wt	+
	FFPE	c.587A>G, p.H196R	Wt	+
	FFPE	c.587A>G, p.H196R	Wt	+
	FFPE	c.587A>G, p.H196R	c.130G>A, p.G44S	−
My31	Fresh frozen	c.1439C>G, p. S480X	c.130G>A, p.G44S	−
	Fresh frozen	c.1439C>G, p. S480X	c.131G>T, p.G44V	−
	Fresh frozen	c.1439C>G, p. S480X	IVS1-1_139del41	−
	Fresh frozen	c.1439C>G, p. S480X	IVS1-8T>A, p.E33_D34insPQ	−
	Fresh frozen	c.1439C>G, p. S480X	c.131G>A, p.G44D	−
	Fresh frozen	c.1439C>G, p. S480X	c.130G>C, p.G44R	−

Abbreviations: FH=fumarate hydratase; FFPE=formalin-fixed paraffin-embedded; HLRCC=hereditary leiomyomatosis and renal cell cancer; IHC = immunohistochemistry; MED12=mediator complex subunit 12; wt=wild type.