Pathology dictionary

What is a syndrome?

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 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.
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