Multiple endocrine neoplasia type 1 (MEN1) is an autosotnal dominant familial cancer syndrome. The responsible gene MEN1 has recently been isolated, and its germline mutations have been identified in affected individuals in the United States, Canada and Europe. We screened for MEN1 mutations by direct nucleotide sequencing of all protein‐coding regions, and identified five distinct germline mutations in five among six Japanese kindreds with familial MEN1 or familial hyperparathyroidism. The mutations were dispersed across the gene. These findings suggest that, because of the absence of an obvious founder effect, the entire MEN1 gene region should be examined for germline mutations in the probands of MEN1 and related syndromes in Japanese families.
The clinical evaluation of thyroid imaging with 99mTc, 201Tl, and 67Ga in the uncommon, but potentially serious, disorder of acute suppurative thyroiditis (AST) with abscess formation due to infection from a persistent thyroglossal duct is reported. The 99mTc image showed functioning areas of the diseased thyroid gland and the 201Tl image demonstrated abscess formation in the thyroid gland of this patient. In addition, marked 67Ga accumulation was demonstrated in a wide area covering not only the area of the thyroid gland involved, but also associated circumferential inflammatory lesions in a patient with AST. The net thyroid uptake of 67Ga at 72 hours was calculated to be 13.8% of the injected dose.
A patient with an islet cell tumor of the pancreas that produced the watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome is presented. On celiac angiography an extremely vascular mass was seen in the body of pancreas with hypertrophied arteries and persistent, dense tumor staining.
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