pathology 2 Flashcards
which condition causes:
-systolic murmur loudest at the back below left scapula
-rib notching on CXR
-radiofemoral delay
-can have syncope/ claudication
Aortic coarctation
Why do you see rib notching on CXR of aortic coarctation?
The intercostal vessels act as collaterals and are dilation
At which site is aortic coarctation most common
Site of ductus arteriosus
Groups likely to get aortic coarctation
Boys
Girls w/ turners
Mx for aortic coarctation
-angioplasty
-surgical resection
what are the tumours found in patients with MEN 1
3 P’s + thyroid + adrenal adenoma
-Pituitary (secretes ACTH, GH, prolactin)
-Parathyroid
-pancreatic (islet cells/ ZEllison)
what is the gene and chromosome mutation in MEN 1
MENIN gene
Chr 11
what are the tumours found in patients with MEN 2A
-Phaeochromocytoma
-Medullary thyroid carcinoma
-Hyperparathyroidism
what are the tumours found in patients with MEN 2b
-Phaeochromocytoma
-Medullary thyroid
-hyperparathyroid
+
marfanoid features
+
mucosal neuromas
what is the gene and chromosome mutation in MEN 2a/b
RET-oncogene
Chr 10
which cells of the thyroid produce the hormone that reduces calcium levels
Parafollicular cells/ C-cells produce calcitonin
what is the inhertience pattern for MEN
Autosomal dominant
What are the colonic and extracolonic features seen in Gardners syndrome
Colonic:
colonic polyps
Extra:
jaw/ skull osteomas
epidermal/ sebaceous cysts
desmoid tumours
Thyroid cancer
T/F gardners syndrome is a variant of FAP
True
What are the gene/ chromosome affected in Gardners syndrome
APC gene
Chr 5
What is the inheritence pattern for Gardners?
Autosomal dominant
What are the features of Lynch syndrome
Colonic + endometrial cancer
What is the criteria used to identify high risk patients for Lynch syndrome
Amsterdam criteria:
-needs 3 or more members of the family affected with 1 being a first degree relative of the other 2
-2 successive generations affected
-1 or more colon cancers diagnosed under 50 years
-FAP has been excluded