October 23, 2023
A syndrome is a group of symptoms or test results that are all caused by the same underlying condition or disease. A syndrome may have a single cause, for example, a genetic mutation, or it may have several causes that result in a similar group of symptoms.
There are many different kinds of syndromes. Pathologists can perform tests such as immunohistochemistry or next-generation sequencing (NGS) to determine if a patient is at risk for having a syndrome.
Common syndromes include:
- Lynch syndrome – Patients with this syndrome are at high risk for developing colon and endometrial cancer.
- Neurofibromatosis – Patients with this syndrome are at high risk for developing multiple non-cancerous tumours called neurofibromas and cancerous tumours called malignant peripheral nerve sheath tumours (MPNST).
- Tuberous sclerosis – Patients with this syndrome are at high risk for developing brain, kidney, and lung tumours.
- Von Hippel-Lindau – Patients with this syndrome are at high risk for developing multiple types of tumours including a type of kidney cancer called clear cell renal cell carcinoma, a blood vessel tumour called hemangioblastoma, and a tumour of the adrenal gland called pheochromocytoma.