Tumor-induced osteomalacia

Expert Review of Endocrinology and Metabolism

Volumn 4, Issue 5, 2009, Pages 435-442

  Farrow, Emily G ^a   White, Kenneth E ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

FGF 23; Fibroblast growth factor 23; FRP4; Hypophosphatemia; MEPE; Oncogenic osteomalacia

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; KERATINOCYTE GROWTH FACTOR; MATRIX EXTRACELLULAR PHOSPHOGLYCOPROTEIN; PHOSPHATE; PHOSPHATONIN; SECRETED FRIZZLED RELATED PROTEIN 4; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; AUTOSOMAL RECESSIVE DISORDER; DOWN REGULATION; ENZYME ACTIVITY; GENE EXPRESSION; HUMAN; HYPERPHOSPHATEMIA; HYPOPHOSPHATEMIA; KIDNEY DISEASE; NONHUMAN; ONCOGENIC OSTEOMALACIA; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SYMPTOMATOLOGY; TUMOR CLASSIFICATION; UPREGULATION; X LINKED HYPOPHOSPHATEMIC RICKETS;

EID: 70449944905     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/eem.09.27     Document Type: Review

References (81)

1. Econs MJ, Drezner MK. Tumor-induced osteomalacia - unveiling a new hormone. N. Engl. J. Med. 330(23), 1679-1681 (1994).
2. Cai Q, Hodgson SF, Kao PC et al. Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. N. Engl. J. Med. 330(23), 1645-1649 (1994).
3. Ryan EA, Reiss E. Oncogenous osteomalacia. Review of the world literature of 42 cases and report of two new cases. Am. J. Med. 77(3), 501-512 (1984). (Pubitemid 14073697)
4. Imel EA, Peacock M, Pitukcheewanont P et al. Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J. Clin. Endocrinol. Metab. 91(6), 2055-2061 (2006). (Pubitemid 43854981)
5. Firth RG, Grant CS, Riggs BL. Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases. Am. J. Med. 78(4), 669-673 (1985).
6. Edelson GW, Shih MS, Parfitt AM. A unique case of adult hypophosphatemic osteomalacia. Bone 14(5), 707-710 (1993).
7. Drezner M. Tumor-induced rickets and osteomalacia. In: Primer on the Metabolic Bone Disease and Disorders of Mineral Metabolism. Favus MJ (Ed.). Raven Press, NY, USA 319-325 (1996).
8. Schapira D, Ben Izhak O, Nachtigal A et al. Tumor-induced osteomalacia. Semin. Arthritis Rheum. 25(1), 35-46 (1995).
9. Weidner N, Santa Cruz D. Phosphaturic mesenchymal tumors. A polymorphous group causing osteomalacia or rickets. Cancer 59(8), 1442-1454 (1987). (Pubitemid 17044999)
10. Lorenz-Depiereux B, Benet-Pages A, Eckstein G et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am. J. Hum. Genet. 78(2), 193-201 (2006). (Pubitemid 43157560)
11. Bergwitz C, Roslin NM, Tieder M et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am. J. Hum. Genet. 78(2), 179-192 (2006). (Pubitemid 43157559)
12. Tieder M, Modai D, Shaked U et al. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. N. Engl. J. Med. 316(3), 125-129 (1987). (Pubitemid 17048612)
13. Folpe AL, Fanburg-Smith JC, Billings SD et al. Most osteomalacia- associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am. J. Surg. Pathol. 28(1), 1-30 (2004).
14. Fukumoto S, Takeuchi Y, Nagano A, Fujita T. Diagnostic utility of magnetic resonance imaging skeletal survey in a patient with oncogenic osteomalacia. Bone 25(3), 375-377 (1999). (Pubitemid 29406065)
15. Hodgson SF, Clarke BL, Tebben PJ, Mullan BP, Cooney WP 3rd, Shives TC. Oncogenic osteomalacia: localization of underlying peripheral mesenchymal tumors with use of Tc 99m sestamibi scintigraphy. Endocr. Pract. 12(1), 35-42 (2006).
16. Kimizuka T, Ozaki Y, Sumi Y. Usefulness of 201Tl and 99mTc MIBI scintigraphy in a case of oncogenic osteomalacia. Ann. Nucl. Med. 18(1), 63-67 (2004). (Pubitemid 38478411)
17. Jan de Beur SM, Streeten EA, Civelek AC et al. Localisation of mesenchymal tumours by somatostatin receptor imaging. Lancet 359(9308), 761-763 (2002).
18. Seufert J, Ebert K, Muller J et al. Octreotide therapy for tumor-induced osteomalacia. N. Engl. J. Med. 345(26), 1883-1888 (2001).
19. Duet M, Kerkeni S, Sfar R, Bazille C, Liote F, Orcel P. Clinical impact of somatostatin receptor scintigraphy in the management of tumor-induced osteomalacia. Clin. Nucl. Med. 33(11), 752-756 (2008).
20. Nasu T, Kurisu S, Matsuno S et al. Tumor-induced hypophosphatemic osteomalacia diagnosed by the combinatory procedures of magnetic resonance imaging and venous sampling for FGF23. Intern. Med. 47(10), 957-961 (2008). (Pubitemid 351936193)
21. van Boekel G, Ruinemans-Koerts J, Joosten F, Dijkhuizen P, van Sorge A, de Boer H. Tumor producing fibroblast growth factor 23 localized by two-staged venous sampling. Eur. J. Endocrinol. 158(3), 431-437 (2008).
22. Westerberg PA, Olauson H, Toss G et al. Preoperative tumor localization by means of venous sampling for fibroblast growth factor-23 in a patient with tumor-induced osteomalacia. Endocr. Pract. 14(3), 362-367 (2008).
23. Hesse E, Moessinger E, Rosenthal H et al. Oncogenic osteomalacia: exact tumor localization by co-registration of positron emission and computed tomography. J. Bone Miner. Res. 22(1), 158-162 (2007). (Pubitemid 46032609)
24. Roarke MC, Nguyen BD. PET/CT localization of phosphaturic mesenchymal neoplasm causing tumor-induced osteomalacia. Clin. Nucl. Med. 32(4), 300-301 (2007).
25. Khadgawat R, Singh Y, Kansara S et al. PET/CT localisation of a scapular haemangiopericytoma with tumour-induced osteomalacia. Singapore Med. J. 50(2), e55-e57 (2009).
26. Mannstadt M, Lorente C, Juppner H. Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. Clin. Chem. 54(7), 1252-1254 (2008). (Pubitemid 352009709)
27. Chalew SA, Lovchik JC, Brown CM, Sun CC. Hypophosphatemia induced in mice by transplantation of a tumor-derived cell line from a patient with oncogenic rickets. J. Pediatr. Endocrinol. Metab. 9(6), 593-597 (1996).
28. ADHR-Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat. Genet. 26(3), 345-348 (2000).
29. Shimada T, Muto T, Urakawa I et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 143(8), 3179-3182 (2002). (Pubitemid 34809892)
30. White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int. 60(6), 2079-2086 (2001). (Pubitemid 33070451)
31. Riminucci M, Collins MT, Fedarko NS et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J. Clin. Invest. 112(5), 683-692 (2003). (Pubitemid 38057709)
32. Jonsson KB, Zahradnik R, Larsson T et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N. Engl. J. Med. 348(17), 1656-1663 (2003). (Pubitemid 36459471)
33. Yamazaki Y, Okazaki R, Shibata M et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J. Clin. Endocrinol. Metab. 87(11), 4957-4960 (2002). (Pubitemid 35316332)
34. White KE, Jonsson KB, Carn G et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J. Clin. Endocrinol. Metab. 86(2), 497-500 (2001). (Pubitemid 32207449)
35. Shimada T, Mizutani S, Muto T et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc. Natl Acad. Sci. USA 98(11), 6500-6505 (2001). (Pubitemid 32488266)
36. Jan De Beur SM, Finnegan RB, Vassiliadis J et al. Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J. Bone Miner. Res. 17(6), 1102-1110 (2002). (Pubitemid 34535149)
37. Larsson T, Zahradnik R, Lavigne J, Ljunggren O, Juppner H, Jonsson KB. Immunohistochemical detection of FGF-23 protein in tumors that cause oncogenic osteomalacia. Eur. J. Endocrinol. 148(2), 269-276 (2003). (Pubitemid 36305695)
38. Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 146(12), 5358-5364 (2005). (Pubitemid 41653049)
39. Antoniucci DM, Yamashita T, Portale AA. Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J. Clin. Endocrinol. Metab. 91(8), 3144-3149 (2006). (Pubitemid 44271770)
40. Nishida Y, Taketani Y, Yamanaka-Okumura H et al. Acute effect of oral phosphate loading on serum fibroblast growth factor 23 levels in healthy men. Kidney Int. 70(12), 2141-2147 (2006). (Pubitemid 44871378)
41. Ito N, Fukumoto S, Takeuchi Y et al. Effect of acute changes of serum phosphate on fibroblast growth factor (FGF)23 levels in humans. J. Bone Miner. Metab. 25(6), 419-422 (2007). (Pubitemid 350043699)
42. Gutierrez OM, Mannstadt M, Isakova T et al. Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis. N. Engl. J. Med. 359(6), 584-592 (2008).
43. Shimada T, Hasegawa H, Yamazaki Y et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J. Bone Miner. Res. 19(3), 429-435 (2004). (Pubitemid 38787398)
44. Hesse M, Frohlich LF, Zeitz U, Lanske B, Erben RG. Ablation of vitamin D signaling rescues bone, mineral, and glucose homeostasis in Fgf-23 deficient mice. Matrix Biol. 26(2), 75-84 (2007). (Pubitemid 46187039)
45. Kuro-o M, Matsumura Y, Aizawa H et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390(6655), 45-51 (1997). (Pubitemid 27494749)
46. Krajisnik T, Bjorklund P, Marsell R et al. Fibroblast growth factor-23 regulates parathyroid hormone and 1α-hydroxylase expression in cultured bovine parathyroid cells. J. Endocrinol. 195(1), 125-131 (2007). (Pubitemid 350056006)
47. Ben-Dov IZ, Galitzer H, Lavi-Moshayoff V et al. The parathyroid is a target organ for FGF23 in rats. J. Clin. Invest. 117(12), 4003-4008 (2007). (Pubitemid 350224109)
48. Schouten BJ, Hunt PJ, Livesey JH, Frampton CM, Soule SG. FGF23 elevation and hypophosphataemia following intravenous iron polymaltose - a prospective study. J. Clin. Endocrinol. Metab. 94(7), 2332-2337 (2009).
49. Larsson T, Marsell R, Schipani E et al. Transgenic mice expressing fibroblast growth factor 23 under the control of the α1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology 145(7), 3087-3094 (2004). (Pubitemid 38829975)
50. Shimada T, Urakawa I, Yamazaki Y et al. FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. Biochem. Biophys. Res. Comm. 314(2), 409-414 (2004). (Pubitemid 38084732)
51. Shimada T, Kakitani M, Yamazaki Y et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J. Clin. Invest. 113(4), 561-568 (2004). (Pubitemid 38542505)
52. Sitara D, Razzaque MS, Hesse M et al. Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol. 23(7), 421-432 (2004). (Pubitemid 39576657)
53. Urakawa I, Yamazaki Y, Shimada T et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444(7120), 770-774 (2006). (Pubitemid 44949607)
54. Matsumura Y, Aizawa H, Shiraki-Iida T, Nagai R, Kuro-o M, Nabeshima Y. Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. Biochem. Biophys. Res. Commun. 242(3), 626-630 (1998). (Pubitemid 28412578)
55. Imura A, Iwano A, Tohyama O et al. Secreted Klotho protein in sera and CSF: implication for post-translational cleavage in release of Klotho protein from cell membrane. FEBS Lett. 565(1-3), 143-147 (2004). (Pubitemid 38595335)
56. Kurosu H, Ogawa Y, Miyoshi M et al. Regulation of fibroblast growth factor-23 signaling by klotho. J. Biol. Chem. 281(10), 6120-6123 (2006). (Pubitemid 43847540)
57. Segawa H, Yamanaka S, Ohno Y et al. Correlation between hyperphosphatemia and type II Na-Pi cotransporter activity in klotho mice. Am. J. Physiol. Renal Physiol. 292(2), F769-F779 (2007). (Pubitemid 46220545)
58. Ichikawa S, Imel EA, Kreiter ML et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J. Clin. Invest. 117(9), 2684-2691 (2007). (Pubitemid 47494368)
59. Farrow EG, Davis SI, Summers LJ, White KE. Initial FGF23-mediated signaling occurs in the distal convoluted tubule. J. Am. Soc. Nephrol. 20(5), 955-960 (2009).
60. Khosravi A, Cutler CM, Kelly MH et al. Determination of the elimination half-life of fibroblast growth factor-23. J. Clin. Endocrinol. Metab. 92(6), 2374-2377 (2007). (Pubitemid 46997149)
61. Takeuchi Y, Suzuki H, Ogura S et al. Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia. J. Clin. Endocrinol. Metab. 89(8), 3979-3982 (2004). (Pubitemid 39071502)
62. Rowe PS, de Zoysa PA, Dong R et al. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 67(1), 54-68 (2000). (Pubitemid 30471121)
63. Berndt T, Craig TA, Bowe AE et al. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J. Clin. Invest. 112(5), 785-794 (2003). (Pubitemid 38057719)
64. Carpenter TO, Ellis BK, Insogna KL, Philbrick WM, Sterpka J, Shimkets R. Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J. Clin. Endocrinol. Metab. 90(2), 1012-1020 (2005). (Pubitemid 40279227)
65. Lu C, Huang S, Miclau T, Helms JA, Colnot C. Mepe is expressed during skeletal development and regeneration. Histochem. Cell Biol. 121(6), 493-499 (2004). (Pubitemid 38916437)
66. Nampei A, Hashimoto J, Hayashida K et al. Matrix extracellular phosphoglycoprotein (MEPE) is highly expressed in osteocytes in human bone. J. Bone Miner. Metab. 22(3), 176-184 (2004). (Pubitemid 38660947)
67. Siggelkow H, Schmidt E, Hennies B, Hufner M. Evidence of downregulation of matrix extracellular phosphoglycoprotein during terminal differentiation in human osteoblasts. Bone 35(2), 570-576 (2004). (Pubitemid 38953206)
68. Rowe PS, Kumagai Y, Gutierrez G et al. MEPE has the properties of an osteoblastic phosphatonin and minhibin. Bone 34(2), 303-319 (2004). (Pubitemid 38177612)
69. Jones SE, Jomary C. Secreted Frizzled-related proteins: searching for relationships and patterns. Bioessays 24(9), 811-820 (2002). (Pubitemid 35022186)
70. Rattner A, Hsieh JC, Smallwood PM et al. A family of secreted proteins contains homology to the cysteine-rich ligand-binding domain of frizzled receptors. Proc. Natl Acad. Sci. USA 94(7), 2859-2863 (1997). (Pubitemid 27157229)
71. Berndt T, Craig TA, Bowe AE et al. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J. Clin. Invest. 112(5), 785-794 (2003). (Pubitemid 38057719)
72. Kurose K, Sakaguchi M, Nasu Y et al. Decreased expression of REIC/Dkk-3 in human renal clear cell carcinoma. J. Urol. 171(3), 1314-1318 (2004). (Pubitemid 38327602)
73. Nozaki I, Tsuji T, Iijima O et al. Reduced expression of REIC/Dkk-3 gene in non-small cell lung cancer. Int. J. Oncol. 19(1), 117-121 (2001).
74. Tsuji T, Nozaki I, Miyazaki M et al. Antiproliferative activity of REIC/Dkk-3 and its significant down-regulation in non-small-cell lung carcinomas. Biochem. Biophys. Res. Commun. 289(1), 257-263 (2001). (Pubitemid 33108824)
75. Feng JQ, Ward LM, Liu S et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat. Genet. 38(11), 1310-1315 (2006). (Pubitemid 44646294)
76. Lorenz-Depiereux B, Bastepe M, Benet-Pages A et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat. Genet. 38(11), 1248-1250 (2006). (Pubitemid 44646286)
77. Endo I, Fukumoto S, Ozono K et al. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone 42(6), 1235-1239 (2008).
78. Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J. Bone Miner. Res. 22(4), 520-526 (2007).
79. Farrow EG, Davis SI, Ward LM et al. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone 44(2), 287-294 (2009).
80. Yamazaki Y, Tamada T, Kasai N et al. Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23. J. Bone Miner. Res. 23(9), 1509-1518 (2008).
81. Aono Y, Yamazaki Y, Yasutake J et al. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/ osteomalacia. J. Bone Miner. Res. (2009).