RET Kinase Gene and Thyroid Cancer - USMLE Forums
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  #1  
Old 09-24-2012
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Thyroid RET Kinase Gene and Thyroid Cancer

A 36 yr old female presented with lump in her throat since 2 months which was not painful or created disturbances to her life..she now complaints with cough and nocturnal dyspnea and dysphagia to solids since 10 days....on chest x ray demonstrated nodules of snow flake appearance in lungs..no other associated abnormalities are seen...physician suspected genetic abnormality and after genetic work up he stated she is suffering from a neoplasm due to constitutive expression of fusion protein RET-kinase gene..what is the neoplasm the pt. is mostly suffering from..?

a) papillary thyroid ca.
b) follicular thyroid ca.
c) medullary thyroid ca.
d) anaplastic thyroid ca.
e) malignant lymphoma
f) metastasized tumor to thyroid
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Old 09-24-2012
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RET- kinase gene
Would go with
Medullary thyroid carcinoma
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Old 09-24-2012
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Smile RET Mutation

C- Medullary Carcinoma
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Old 09-24-2012
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Question added question

Thought like asking you other question....just to elaborate abstract thinking....


2Q) what is the following disease is associated with loss of mutation of RET oncogene....?

a) medullary thyroid ca.
b) hashimoto thyroiditis
c) ulcerative colitis
d) papillary thyroid
e) hirschprung's disease
f) primary sclerosing cholangitis
g) MEN-2B
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Old 09-24-2012
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Smile G-

I would go for G..
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Old 09-24-2012
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A--- papillary thyroid
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Old 09-24-2012
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papilliary for the first one?
men2 second one
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Old 09-24-2012
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RET Gene associated with Medullary Ca thyroid. ( like Hirschsprung's disease)
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Old 09-24-2012
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Quote:
Originally Posted by venky2600 View Post
Thought like asking you other question....just to elaborate abstract thinking....


2Q) what is the following disease is associated with loss of mutation of RET oncogene....?

a) medullary thyroid ca.
b) hashimoto thyroiditis
c) ulcerative colitis
d) papillary thyroid
e) hirschprung's disease
f) primary sclerosing cholangitis
g) MEN-2B
Hey thanks for putting these questions together.
RET loss of funtion - e) hirschprung's disease

RET gain of function- c) medullary thyroid ca(also included in MEN2a and b)
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Old 09-25-2012
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Correct Answer A and E are correct answers

the correct answer for 1Q) is a) papillary thyroid cancer

the correct answer for Q2 is e) hirschprung's disease

RET is a protooncogene with tyrosine kinase receptor when expressed with a glial factor lead to overexpression and lead to carcinogenesis

1)Gain of function mutations------a) most common is due to point mutations in RET gene lead to it's overexpression-------@ with MEN2A, MEN2B , and familial medullary carcinoma of thyroid

b) mutation due to fusion protein of C-end of RET with N-end of another protein(PTC protein)-------@ with papillary thyroid carcinoma of thyroid...


2)Loss of function mutations--------@ with Hirschprung's disease(aganglionic toxic megacolon)


papillary thyroid cancer can invade lungs via lymphatic leading to nodular opacities as snow flake appearance in x-ray....


the other remaining options are not associated with RET mutations
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The above post was thanked by:
DrSK (10-18-2012), gusvill81 (09-25-2012), matxjos (04-12-2016)



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