TABLE 2.

Clinical and Molecular Features of Reported FH-deficient PCC/PGL Cases

References	Patient ID	Germline DNA Change	Protein Change	Predicted Consequence	Age at Diagnosis (y)	Sex	Clinical Phenotype
Letouzé et al26 and Castro-Vega et al25	1	c.349G>C	p.Ala117Pro	Missense	63	F	Unilateral PCC Metastatic
	2	c.268-2A>G	(splice defect)	Splicing defect	20	F	PCC and PGL
	3	c.1142C>T	p.Thr381Ile	Missense	28	M	PGL Metastatic
	4	c.580G>A	p.Ala194Thr	Missense	54	F	PCC and PGL Metastatic
	5	c.986A>G	p.Asn329Ser	Missense	70	M	HNPGL
Clark et al37	1	c.1301G>A	p.Cys434Tyr	Missense	6	M	Unilateral PCC
	2	c.157G>A	p.Glu53Lys	Missense	41	M	Unilateral PCC
Richter et al35	1	c.700A>G	p.(Thr234Ala)	Missense	36	F	Unilateral PCC Aberrant tumor fumarate:malate ratio on metabolomics, FH deficient by IHC
	2	c.908T>C	p.(Leu303Ser)	Missense	53	F	Unilateral PCC Aberrant tumor fumarate:malate ratio on metabolomics, FH deficient by IHC
	3	c.816_836del	p.(Ala273_Val279del)	In-frame deletion leading to loss of 6 amino acids	U	U	Unilateral PCC Aberrant tumor fumarate:malate ratio on metabolomics and LOH detected
This study	1	c.1142C>T	p.Thr381Ile	Missense	30	M	Unilateral PCC Family history of HLRCC Metachronous PGL diagnosed 22 y later (pathology not available)
	2	WT	NA	NA	36	F	PGL with somatic FH c.1516A>G (p.Met506Val) mutation
	3	c.222A>T	p.Arg74Ser	Missense	69	F	Unilateral PCC No LOH
	4	U	NA	NA	77	M	PGL with somatic FH c.203A>G (p.Tyr68Cys) mutation No LOH
	5	c.1142C>T	p.Thr381Ile	Missense	59	F	Unilateral PCC Synchronous high-grade serous carcinoma of the ovary
	6	c.1142C>T	p.Thr381Ile	Missense	32	F	Unilateral PCC Synchronous clear cell RCC
	7	c.700A>G	p.Thr234Ala	Missense	57	M	PGL with LOH Metastatic
	8	c.222A>T	p.Arg74Ser	Missense	53	F	PGL Metastatic to lymph node

F indicates female; M, male; NA, not available; U, unknown; WT, wild-type.