TABLE 1.

Clinical, Pathologic, IHC, and Molecular Features of 8 FH-deficient PCC/PGL Identified by Screening a Cohort of 589 Consecutive Cases

^*Patients 1, 5, and 6 are all from the same extended kindred. Patient 5 had been unaware of patient 1’s diagnosis of HLRCC and only after genetic counseling and molecular testing was undertaken, was patient 6 found to be related to this kindred.

^†A synonymous germline FH c.330T>C (p.Tyr110Tyr) VUS was detected.

^‡A synonymous FH c.920C>T (p.Val306Val) variant was also detected in the FH-deficient part of the tumor.

^§Patient 2 biochemistry was not tested before removal. However, there was strong clinical evidence of catecholamine production including takotsubo-like cardiomyopathy, postoperative acute respiratory distress syndrome, labile blood pressure requiring vasopressors, and delayed extubation.

ANED indicates alive no evidence of disease; AWD, alive with disease; DOD, dead of disease; F, female; LVI, lymphovascular invasion; M, male; U, unknown/not tested; WT, wild-type.