Hereditary Pheos, here is your Von Hippel-Lindau,
angiomatosis, cerebellar hemangioblastomas,
pheochromocytoma; renal cell carcinoma is
The molecular mechanism for that is already
discussed in great detail.
Once again, we talked about the hypoxia-inducible
factor 1-alpha and its influence on VEGF and
you can have the cyst in the kidney, in the
liver, in the pancreas, all over the place.
In Sturge-Weber, cavernous hemangiomas of
fifth cranial nerve, pheochromocytoma.
Sturge-Weber is a child, half the face might
have your port wine stain.
What does that mean?
Half the face looks reddened, erythematosus.
More hereditaries… these are neuroblastomas.
Malignant catecholamine producing tumour from
the adrenal medulla association.
Remainder arise along the sympathetic chain.
most common solid tumour in infants less than
one year of age, causes hypertension.
The most important… the two most important
points out of neuroblastoma - less than one
year of age.
We’re thinking about solid tumour and number
Look for episodic hypertension.
Often differentiated into more mature form
called ganglioneuromas; amplification of N-myc…
N neuroblastoma… this is bad.
You know about myc, myc especially your C-myc,
here’s N-myc… neuroblastoma, we’re still
continuing the topic of neuroblastoma.
Labs will show increased urinary excretion
of your catecholamines in the form of metabolites.
Once again, we have our vanillylmandelic acid,
the neuroblastomas that we’re seeing in
the images to your right.
Continue our discussion of hereditary pheochromocytomas,
here we have MEN part of both 2A and 2B.
We have more than one endocrine organ which
we will walk through in great detail.
There is only 2A and 2B that we’ll take
a look at with pheochromocytoma at this juncture.
Autosomal dominant 2A and 2B, familial medullar
thyroid cancer could be found in 2A… medullary.
Genetic individuals here with 2A you want
to keep in mind that RET proto-oncogene also
associated… that’s the big point.
If you remember chromosome 10, that’s fantastic,
you definitely want to know tyrosine kinase;
the RET proto-oncogene is associated with
the receptor tyrosine kinase.
What is MEN2A and what are these various organs
that are involved?
MEN stands for Multiple Endocrine Neoplasia
and we have Sipple syndrome.
Medullary cancer of the thyroid, 100 percent
of your patient is 2A will have medullary.
We will have medullary cancer of the thyroid
in your 2B as well removed prophylactically,
but before you can get in here and try to
remove your patient, or excuse me, remove
the nodule within the thyroid, you need to
control this, right?
Pheochromocytoma and you want to control the
blood pressure maybe perhaps phenoxybenzamine
before you do any type of surgery, don’t
you ever forget that.
This is 2A so far medullary cancer of the
thyroid, pheochromocytoma, what’s the third
Hyperparathyroidism resulting in hypercalcemia.
Because of the medullary cancer of the thyroid,
we’ll have RET proto-oncogene associated
with tyrosine kinase… welcome to MEN2A…
If this is 2A, let’s take a look at 2B.
Pheochromocytomas are also present here, hence
Medullary cancer of the thyroid also here,
cold nodule… what do you want to do first?
First step of management, control the blood
Next step, my goodness, remove the tumour
out of the thyroid, remove prophylactically.
Here, we’re seeing something different or
unique that we did not see in 2A.
What is it?
The mucosal neuroma or the continuation of
a neuroblastoma called a ganglioneuroma.
We did not find this in 2A.
The above two, the medullary cancer of the
thyroid and the pheo, both are present in
2A and 2B.
So, what do we not have in 2B?
If it’s not, make sure it is before we move
95 percent of the time, it will be 2A; 5 percent
of the time, it will be 2B.
Know both, be able to distinguish one from
Marfanoid phenotype, take a look at your patient
here… marfanoid, what does that mean?
Tall, lanky, skinny… marfanoid.
Also, related to RET, medullary cancer of
the thyroid, control your blood pressure.