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Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma (codons 630 and 634) and amyloid producing medullary thyroid carcinoma", [1] "PTC syndrome," [1] and "Sipple syndrome" [1]) is a group of medical disorders associated with tumors of the endocrine system.
If a patient has the characteristic signs and symptoms of a pheochromocytoma and the decision is made to pursue additional biochemical (blood work) evaluation, the differential diagnosis is important as it is more likely to be something other than a pheochromocytoma given the relative frequency of 0.8 per 100,000 person-years.
AFP is normally elevated in infants, and because teratoma is the single most common kind of tumor in infants, several studies have provided reference ranges for AFP in normal infants. [5] [6] [7] Perhaps the most useful is this equation: log Y = 7.397 - 2.622.log (X + 10), where X = age in days and Y = AFP level in nanograms per milliliter. [8]
Pheochromocytoma is a neoplasm composed of cells similar to the chromaffin cells of the mature adrenal medulla. Pheochromocytomas occur in patients of all ages, and may be sporadic, or associated with a hereditary cancer syndrome , such as multiple endocrine neoplasia (MEN) types IIA and IIB, neurofibromatosis type I, or von Hippel–Lindau ...
English: Histopathology of a pheochromocytoma with coagulative necrosis, displayed at gross pathology (upper left) and light microscopy at low (upper right), medium (lower left) and high magnification (lower right). High magnification reveals ghost cells.
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Mutations in the genes encoding alpha subunits of hypoxia-inducible factors (HIF-alpha) have not previously been identified in any cancer. [4]In the Pacak–Zhuang syndrome, patients have somatic gain of function mutations in the genes encoding for HIF2A, leading to prolonged HIF-2α activity and, thus, an increase in its half-life. [5]
When the same type of tumor is found in the adrenal gland, they are referred to as a pheochromocytoma. They are rare tumors, with an overall estimated incidence of 1 in 300,000. [ 1 ] There is no test that determines benign from malignant tumors ; long-term follow-up is therefore recommended for all individuals with paraganglioma.