Table 1 Syndrome-related personal and self-reported family history and potential evidence of risk management assessed by manual EHR reviewa
Gene(s) | Personal history and self-reported family history | Potential evidence of risk managementb |
|---|---|---|
• Clinically identified P/LP MEN1 variant • Multiple endocrine neoplasia type 1 • Wermer syndrome • Primary hyperparathyroidism • Parathyroid tumor • Pituitary adenoma • Zollinger-Ellison syndrome • Gastrinoma • Insulinoma • VIPoma • Glucagonoma • Pancreatic islet cell tumor • Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract • Carcinoid tumor • Adrenocortical tumor • Dermatologic manifestations o Facial angiofibroma o Collagenoma o Meningiomas o Ependymomas • Leiomyoma • Lipoma | Appointments • Genetics • Endocrinology • Otolaryngology • Gastroenterology Surveillance Biochemical: • Calcium • PTH, intact • 25-OH vitamin D • Prolactin • Insulin growth factor-1 • Gastrin • Fasting glucose • Insulin • Chromogranin A • Pancreatic polypeptide • Glucagon • Vasoactive intestinal peptide Imaging: • Head/brain MRI • Pituitary (Sella) MRI • Abdominal CT/MRI • Endoscopic ultrasound • Chest CT/MRI | |
• Clinically detected P/LP RET variant • Multiple endocrine neoplasia type 2 • Medullary thyroid cancer • Pheochromocytoma • Parathyroid adenoma • Parathyroid hyperplasia • C-cell hyperplasia • Hirschsprung disease • Cutaneous lichen amyloidosis | Appointments • Genetics • Endocrinology • Otolaryngology Surveillance Biochemical: • Calcitonin • CEA • Calcium • PTH, intact • 25-OH vitamin D • Plasma-free metanephrines • 24-h urine fractionated metanephrines • Plasma-free catecholamines • 24-h urine fractionated catecholamines • Vanillylmandelic acid Imaging: • Thyroid ultrasound • Abdominal MRI/CT Prophylactic surgery • Thyroidectomy | |
• Clinically identified P/LP SDHx variant • Hereditary paraganglioma-pheochromocytoma syndrome • Paraganglioma • Pheochromocytoma • Gastrointestinal stromal tumor • Renal cell carcinoma | Appointments • Genetics • Otolaryngology • Endocrinology Surveillance Biochemical: • Plasma-free metanephrines • 24-h urine fractionated metanephrines • Plasma-free catecholamines • 24-h urine fractionated catecholamines • Vanillylmandelic acid • Dopamine and/or 3-methyoxytyramine Imaging: • Whole body CT/MRI ○ Head/neck CT or MRI ○ Abdomen/pelvis CT or MRI • Renal ultrasound | |
• Clinically identified P/LP VHL variant • Von Hippel-Lindau syndrome • Renal cell carcinoma • Pheochromocytoma • Endolymphatic sac tumor • Hemangioblastoma (brain, spinal, retinal) • Renal cysts • Pancreatic cysts • Pancreatic neuroendocrine tumor • Epididymal and broad ligament cystadenomas | Appointments • Ophthalmology • Audiology • Otolaryngology • Urology • Endocrinology • Genetics Surveillance Biochemical: • Plasma-free metanephrines • 24-h urine fractionated metanephrines • Plasma-free catecholamines • 24-h urine fractionated catecholamines • Vanillylmandelic acid Imaging: • Abdominal ultrasound • Abdominal MRI Exam: • Audiology assessment • Dilated retinal exam |