Podcast
Questions and Answers
What is the characteristic appearance of pheochromocytoma?
What is the characteristic appearance of pheochromocytoma?
- Yellowish appearance due to lipid accumulation
- Reddish appearance due to vascularization
- Dark brown black appearance caused by chromaffin oxidation of catecholamines (correct)
- Light brown appearance due to melanin production
Which genes are associated with inherited germline mutation in pheochromocytoma?
Which genes are associated with inherited germline mutation in pheochromocytoma?
- RET, VHL, NF1, SDHD, SDHC or SDHS (correct)
- BRCA1, BRCA2, TP53, APC
- KRAS, EGFR, ALK, ROS1
- PTEN, STK11, CDH1, BMPR1A
What are the common clinical features of pheochromocytoma predominantly due to?
What are the common clinical features of pheochromocytoma predominantly due to?
- Secretion of catecholamines, both epinephrine and norepinephrine (correct)
- Secretion of cortisol and aldosterone
- Secretion of insulin and glucagon
- Secretion of thyroid hormones
What is the age range in which most pheochromocytoma patients are found?
What is the age range in which most pheochromocytoma patients are found?
How are malignant pheochromocytomas diagnosed?
How are malignant pheochromocytomas diagnosed?
Where do the vast majority of neuroblastoma cases occur?
Where do the vast majority of neuroblastoma cases occur?
What gene mutation is associated with familial cases of neuroblastoma?
What gene mutation is associated with familial cases of neuroblastoma?
What are the clinical manifestations of neuroblastoma related to?
What are the clinical manifestations of neuroblastoma related to?
What can be detected in the 24-hour urine of a patient with neuroblastoma?
What can be detected in the 24-hour urine of a patient with neuroblastoma?
What syndrome may a patient develop due to the production of kinins or prostaglandins by the neuroblastoma?
What syndrome may a patient develop due to the production of kinins or prostaglandins by the neuroblastoma?
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Study Notes
Pheochromocytoma Characteristics
- Pheochromocytoma has a characteristic appearance of a well-circumscribed, highly vascularized tumor with a variegated cut surface.
Genetic Associations
- Inherited germline mutations in pheochromocytoma are associated with genes such as RET, VHL, NF1, and SDHx.
Clinical Features
- The common clinical features of pheochromocytoma are predominantly due to excessive catecholamine production, leading to symptoms such as hypertension, headaches, and palpitations.
Age Range
- Most pheochromocytoma patients are found in the age range of 40-60 years.
Malignant Diagnosis
- Malignant pheochromocytomas are diagnosed by the presence of metastases, typically to the bones, liver, or lymph nodes.
Neuroblastoma Characteristics
- The vast majority of neuroblastoma cases occur in the adrenal medulla.
Genetic Associations
- Familial cases of neuroblastoma are associated with mutations in the ALK gene.
Clinical Manifestations
- The clinical manifestations of neuroblastoma are related to the production of catecholamines, leading to symptoms such as hypertension, diarrhea, and sweating.
Urine Analysis
- Vanylmandelic acid (VMA) and homovanillic acid (HVA) can be detected in the 24-hour urine of a patient with neuroblastoma.
Syndrome Association
- Patients with neuroblastoma may develop a syndrome due to the production of kinins or prostaglandins by the tumor, known as neuroblastoma-associated syndrome.
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