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28 Cards in this Set
- Front
- Back
MEN1 inheritance? |
AD ; germline mutation at chromosome 11q13 |
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familial MEN1 defined as.... |
one MEN1 case plus one first-degree relative who has at least one of the 3 tumors |
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usual disorders associated with MEN1 |
primary hyperparathyroidism (parathyroid adenomas) pituitary adenomas -> prolactinoma enteropancreatic -> gastrinoma (zollinger-Ellison syndrome) |
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how are MEN1 tumors different from comparable tumors without the mutation |
earlier age, greater tendency to recur |
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what is commonly associated with MEN1 mutation? |
cutaneous features such as angiofibromas, collagenomas, and lipomas |
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most common manifestation of MEN1 mutation? |
hyperparathyroidism |
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characteristic skin rash |
glucagonoma |
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associated with watery diarrhea and weakness |
VIPoma |
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combination of multiple angiofibromas (more than three) and any collagenomas indicates MEN1 in... |
75% of cases |
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familial MEN1 |
at least one typicalMEN1 tumor in a first-degree relative of an index case of familial MEN1.
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non-familial MEN1 |
combinations of tumors similar to those seen in familial MEN1 but with no involvement of first degree relatives, no MEN1 mutations, and lack of typical MEN1 features such as early onset of disease or multiple tumors
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familial MEN1 w/ only one MEN1 condition |
new index cases maypresent with only one MEN1-related tumor, usually primary hyperparathyroidismbut occasionally other tumors that tend to produce more symptoms, e.g.gastrinoma. The presence of early age onset, multiple tumors, or specifictumors is an indication to consider the diagnosis of MEN1. Children inparticular may present with tumors in only one major gland
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more than 95% of MEN1 patients develop_______ by age 45 |
primary hyperparathyroidism |
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most common pituitary adenoma in MEN1 patients |
prolactinoma; may be less responsive to therapy and more likely to recur |
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which MEN1 tumors are frequently malignant and represent major source of mortality due to MEN1 |
gastrinomas and carcinoids |
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what treatment is rarely curative for gastrinomas? |
surgery; in non MEN1 tumors the success rate is higher |
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carcinoids in MEN1 patients are usually located where? |
malignant thymic (70%) and bronchial (20%) gastric carcinoids have low malignancy |
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What should you not miss in these patients? |
neuroendocrine tumor |
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diagnostic procedure for MEN1 |
initial goal is to confirm the presence or absence of the three main MEN1 related endocrine tumors; the order of the test should be determined by the current symptoms; the presence of first degree relatives with similar findings and/or the presence of typical MEN1 gene abnormalities confirms the diagnosis of familial MEN1 |
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imaging test preference for pituitary adenoma |
MRI |
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primary test for diagnosis of gastrinoma |
fastin gastrin measurement and the measure of gastric acid secretion w/ secretin stimulation |
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gastrinomas are likely to metastasize to... |
the liver; use MRI to determine if there has been metastasis |
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enteropancreatic tumor imaging |
CT |
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newly diagnosed MEN1 patients procedure |
endoscopy -> look for carcinoid tumors
after 5 -> look for insulinomas, anterior pituitary tumor, and PTH adenoma at age 20 -> look for gastrinoma, thymus or bronchial carcinoid, and enteropancreatic tumors |
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treatment of choice in Cushions pituitary ACTH secreting tumor |
trans-sphenoidal surgery |
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treatment for gastrinoma |
proton pump inhibitors; octreotide has been show to effectively reduce hormone secretion and shrink both benign and malignant tumors |
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treatment for insulinoma |
surgery |
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treatment for carcinoid tumors |
prophylactic thymectomy recommended due to the potential risk of malignant thymic carcinoid; management of malignant gastric carcinoids w/ surgery or by treatment with octreotide |