Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome
| Autor: | Lori C. Guthrie, J. A. Berglund, Diala El-Maouche, Alfredo A. Molinolo, E. W. Cowen, Clara C. Chen, Rachel I Gafni, Michael T. Collins, Richard Chang, Felasfa M. Wodajo |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Fibroblast growth factor 23 Male Tumor suppressor gene Paraneoplastic Syndromes Endocrinology Diabetes and Metabolism Article 03 medical and health sciences 0302 clinical medicine medicine PTEN Humans Bone pain Osteomalacia Neoplasms Connective Tissue biology business.industry PTEN Phosphohydrolase Cowden syndrome Middle Aged medicine.disease Phosphaturic mesenchymal tumor Fibroblast Growth Factors stomatognathic diseases Fibroblast Growth Factor-23 030104 developmental biology 030220 oncology & carcinogenesis Mutation Cancer research biology.protein medicine.symptom business Hamartoma Syndrome Multiple Hypophosphatemia |
| Zdroj: | Osteoporos Int |
| Popis: | Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer. While CS is a clinical diagnosis, most, but not all, harbor a mutation in the tumor suppressor gene PTEN. Genetic testing revealed a somatic FN1-FGFR1 translocation in the FGF23-producing tumor causing TIO; however, a germline PTEN mutation was not identified. To our knowledge, this is the first reported case of concurrent TIO and CS. |
| Databáze: | OpenAIRE |
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