Current estimates predict that upwards of 40% of all<unk> s are related to an inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a<unk>  undergo an evaluation with a genetic counselor to consider genetic testing. The most recent data indicates that there are 25<unk>  susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. Determining the genetic status of a<unk>  patient is crucial – each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. Furthermore, early identification can guide physicians on screening recommendations for first degree relatives of patients with<unk> . There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with<unk> , but no current evidence of disease) should be evaluated. Conversations should occur at an individual level with the patient and their provider to develop a personalized screening plan that alternates between a biochemical (blood work) evaluation and whole-body imaging to monitor disease progression. Pediatric considerations Additional practices may help maintain the emotional and psychological well-being of the minor. Screening includes a multidisciplinary team (endocrinologist, oncologist, psychologist, geneticist, parent, and child) where the primary focus is supporting the child. * A positive result from testing during family-observed days of celebration may mask the happiness associated with these events in the future. * Testing one pediatric sibling at a time allows the family to narrow their focus when results are returned and support each sibling individually. * A negative result may be upsetting to a child if their sibling was positive; an opportunity to ask questions and process results may be helpful. Hereditary syndromes The following table(s) detail the clinical characteristics of the well-known hereditary<unk>  gene variants +Classic<unk>  Tumor Syndromes Gene Inheritance Penetrance Metastatic Potential 1o Disease Characteristics MEN2 RET Autosomal Dominant 40–50% o Disease Characteristics PGL1 SDHD Autosomal Dominant Paternal Inheritance 90% +Other<unk>  Gene Mutations Inheritance Penetrance Metastatic Potential 1o Disease Characteristics MAX Autosomal Dominant Inconsistent Other gene variants There have been several published case reports of other, rare<unk> -associated susceptibility genes: # Pacak-Zhuang Syndrome #* Hypoxia-inducible factor 2 alpha (HIF2A) #* Polycythemia #* Duodenal somatostatinoma #* Retinal and choroidal vascular changes #* Paraganglioma/Pheochromocytoma #<unk>  and Giant Cell Tumor of Bone #* H3 histone, family 3A (H3F3A), post-zygotic G34W #*<unk> /Paraganglioma # Carney Triad #* Gastrointestinal stromal tumor #* Pulmonary chondroma #* Paraganglioma # Carney-Stratakis Syndrome #* Gastrointestinal stromal tumor #* Paraganglioma Several additional gene variants have been described, but the provided information is inconsistent and a consensus has not been reached in the community if these mutations are truly<unk>  susceptibility genes.
Pheochromocytoma
Renal oncocytoma
Histiocytoma
Pineocytoma
Pituitary adenoma
Mastocytoma
Adrenocortical adenoma
Glomus tumor