Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although more than 50 patients with the tumor-induced osteomalacia syndrome, characterized by remission of unexplained osteomalacia after resection of a coexisting tumor, have been reported, the pathogenesis of this syndrome is still not clear. We investigated the cause of biopsy-confirmed osteomalacia which was resistant to treatment with 1 alpha-hydroxyvitamin D3 in a 54-yr-old man. He had severe hypophosphatemia, a high serum alkaline phosphatase level, a low plasma 1,25-dihydroxyvitamin D level, and remarkably increased urinary phosphorus excretion. A tumor, with histological characteristics of a hemangiopericytoma, was found on his left thigh. After surgical removal of this tumor, his plasma 1,25-dihydroxyvitamin D and serum phosphorus levels increased to normal levels, and his bone pain subsided. The tumor was transplanted to athymic nude mice. A nodule formed in each mouse, with histological features identical to those of the original tumor, and the tumor-bearing mice had hypophosphatemia, high serum alkaline phosphatase levels, and increased urinary phosphorus excretion. When extracts of the original tumor were added to primary cultures of renal tubular cells, renal cAMP levels did not change, but 25-hydroxyvitamin D-1 alpha-hydroxylase activity was significantly inhibited. These data indicate tumoral production of some humoral factor(s) inhibiting 25-hydroxyvitamin D-1 alpha-hydroxylase activity and phosphorus reabsorption unrelated to adenylate cyclase-cAMP production in proximal renal tubules.
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PMID:Hemangiopericytoma-induced osteomalacia: tumor transplantation in nude mice causes hypophosphatemia and tumor extracts inhibit renal 25-hydroxyvitamin D 1-hydroxylase activity. 283

Oncogenic osteomalacia is an unusual and rare clinicopathologic syndrome characterized by mesenchymal tumors that apparently produce osteomalacia and biochemical abnormalities consisting of hypophosphatemia, normocalcemia, and increased levels of alkaline phosphatase. We collected from the Mayo Clinic files and from our consultation files the records for 17 cases of osteomalacia associated with bone lesions. There were five cases of fibrous dysplasia, three of hemangiopericytoma, and two of phosphaturic mesenchymal tumor. There was one case each of osteosarcoma, chondroblastoma, chondromyxoid fibroma, malignant fibrous histiocytoma, giant cell tumor, metaphyseal fibrous defect, and hemangioma. In this study we can figure out that the most common characteristic histologic features of our cases were hemangiopericytomatous vascular proliferation, fine lace-like stromal calcification, and stromal giant cells. In most of the cases, the clinical and biochemical symptoms and signs resolved soon after complete resection of the lesion. When the lesion recurred or metastasized, the symptoms and signs also recurred.
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PMID:Oncogenic osteomalacia: a clinicopathologic study of 17 bone lesions. 784 76

A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma.
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PMID:Glomangiopericytoma causing oncogenic osteomalacia. A case report with immunohistochemical analysis. 1119 5

A case of tumor-induced osteomalacia in a 35-year-old woman suffering from severe bone pain and muscle weakness is described. This uncommon disease is characterized by a reduced serum phosphorus level with elevated urinary phosphate excretion, normocalcemia, high serum bone alkaline phosphatase and a deficiency of 1,25 dihydroxyvitamin D3. The tumors responsible for oncogenic osteomalacia are usually small, benign and commonly located in bone or soft tissues of the head and the limbs, so the diagnosis can often be difficult. In this case a 111In-pentetreotide scintigraphy was able to detect a hemangiopericytoma located in the right mascellar sinus. Removal of the tumor resulted in the reversal of clinical and biochemical abnormalities.
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PMID:A case of oncogenic osteomalacia detected by 111In-pentetreotide total body scan. 1294 4

A 45-year-old male was admitted with difficulty in walking due to leg pain. At the time of the first visit, a reduced serum phosphorus concentration and an increased serum alkaline phosphatase concentration of unknown etiology were observed. Either a whole body bone scintigraphy or CT of the neck, chest and abdominal region did not reveal any underlying disease. However both the whole body 201Tl scintigraphy and 99mTc MIBI SPECT showed accumulation in the right knee region, and a small tumor was detected by MRI examination. After a diagnosis of oncogenic osteomalacia due to this tumor was determined the tumor was surgically removed, and turned out to be a hemangiopericytoma. By removal of the tumor, either the symptoms or the laboratory data were improved significantly. In this case, both 201Tl scintigraphy and 99mTc scintigraphy MIBI were useful in identifying the location of the tumor which caused oncogenic osteomalacia.
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PMID:Usefulness of 201Tl and 99mTc MIBI scintigraphy in a case of oncogenic osteomalacia. 1507 86

This paper shows a case of oncogenic osteomalacia in a 35-year-old man who presented with a 2-year history of generalized pain and progressive weakness of lower limbs, eventually became bed bound. At admission he had severe hip pain resulting from atraumatic femoral neck fractures. Laboratory investigations revealed hypophosphatemia, hyperphosphaturia, normocalcemia, elevated alkaline phosphatase, and normal serum levels of parathormone and 25-hydroxyvitamin D. Serum FGF-23 was elevated. Imaging showed osteoporosis and insufficiency fractures of the femoral neck. Whole body functional imaging failed to reveal any areas of increased activity. However, on computed tomography (CT) and magnetic resonance (MR) imaging, a tumor was discovered at left nasal cavity. The patient was treated with phosphate supplements and vitamin D, but his hypophosphatemia persisted. The tumor was surgically removed. Histologically, the tumor was diagnosed as variant of a sinonasal hemangiopericytoma-like tumor. After surgery, his symptoms were relieved and biochemical parameters normalized.
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PMID:A case of oncogenic osteomalacia due to occult nasal sinus tumor. 2613 1