Questioning the pathogenic role of the p XXXX mutation of the @entity8958 proto-oncogene: Insight from a case report.

@entity8958 @entity1 @entity101 @entity6531 @entity1911 @entity5 @entity8942 @entity2287 @entity460 @entity1063 @entity10 @entity259 @entity38044 @entity1374
UNASSIGNED: The p @entity38044 mutation of the @entity8958 proto-oncogene is associated with a low penetrance of @entity259 ( @entity259 ). Thus, there is a lack in guidelines on management of these @entity1 presenting without a @entity1374 . CLINICAL CASE: A 27-year-old @entity1 presented with a history of severe @entity101 , @entity8942 , diaphoresis and @entity10 . Twenty-four-hour urinary @entity1063 and @entity6531 levels were exclusively up to 20 times the normal limit. CT-scan and MRI found a 35-mm diameter right @entity5 , highly intense in T2- and hypo-intense in T1-weighted image, enhanced after @entity2287 injection. After alpha-adrenergic blocker treatment, a surgical resection of the @entity5 was performed; this latter proved to be a @entity1911 . Genetic screening only revealed a germline p @entity38044 mutation of the @entity8958 proto-oncogene. However, the @entity1 showed no evidence of MEN2: basal calcitonin was normal and @entity460 infusion test was negative. Thyroid ultrasound revealed a TIRADS 3 nodule with benign cytology. Total thyroidectomy was suggested but withheld due to the @entity1 's refusal and a close follow-up was decided. CONCLUSION: This rare case of p @entity38044 mutation-related @entity1911 without evidence of @entity259 questions the indication for prophylactic thyroidectomy in mutation carriers, as recent data challenges its pathogenicity.
