XXXX in @entity8958 Syndrome: A Two-Institution Experience.

@entity1 @entity8958 @entity8959 @entity3018 @entity66946 @entity1911 @entity6635 @entity38738 @entity62284 @entity3689 @entity369 @entity4149
BACKGROUND: @entity1911 (PHEO) is more frequently found in @entity1 with @entity3018 2A carrying a @entity8958 germline mutation located in codon 634 (C634). However, it is unclear whether different @entity3689 substitutions within C634 cause differences in bilateral PHEOs expression. We aimed to answer this by pooling data from two Asian institutions. METHODS: Sixty-seven @entity1 had confirmed C634 germline mutation. Age-dependent penetrance of bilateral PHEO was calculated from date of birth to the date when bilateral PHEO was first diagnosed or when the contralateral gland became a PHEO (if the @entity1 already had one adrenal gland removed). Age-dependent penetrance was estimated by the Kaplan-Meier method and compared by log-rank test. RESULTS: The 4 different @entity3689 substitutions included @entity38738 ( @entity369 ) (n  =  19, 28.4  %), @entity62284 ( @entity4149 ) (n  =  36, 38.8  %), @entity66946 ( @entity8959 ) (n  =  4, 6.0  %), and C634W ( @entity6635 ) (n  =  8, 11.9  %). The age-related penetrance of PHEO was similar between @entity38738 , @entity62284 , @entity66946 , and C634W (by age 40, 69.8, 55.2, 25.0, and 56.2  %, respectively) (p  =  0.529). However, the age-related penetrance of bilateral PHEO in @entity38738 was significantly higher than @entity62284 (by age of 40, 59.3  % vs. 25.2  %, p  =  0.046) or @entity62284 , @entity66946 , and C634W combined (59.3  % vs. 21.5  %, p  =  0.024). Nevertheless, the accumulative risk of bilateral PHEOs across all four C634 mutations almost approached 100  % over time. CONCLUSION: The accumulative risk of bilateral PHEOs almost reached 100  % but its onset was significantly earlier in @entity38738 mutation. These findings implied that those with @entity38738 mutation might benefit from earlier screening of contralateral PHEO than other C634 mutations after an unilateral adrenalectomy.
