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open access

Vol 69, No 2 (2018)
Case report
Submitted: 2017-03-15
Accepted: 2017-04-07
Published online: 2018-02-08
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Occult phosphaturic mesenchymal tumour of femur cortex causing oncogenic osteomalacia — diagnostic challenges and clinical outcomes

Deep Dutta, Raghuvansh Kumar Pandey, Rakhee Gogoi, Nagender Solanki, Renu Madan, Anupam Mondal, Shruti Dogra, Pradeep Thapa
DOI: 10.5603/EP.a2018.0016
·
Pubmed: 29442350
·
Endokrynol Pol 2018;69(2):205-210.

open access

Vol 69, No 2 (2018)
Case report
Submitted: 2017-03-15
Accepted: 2017-04-07
Published online: 2018-02-08

Abstract

Background: Tumor induced osteomalacia (TIO) are extremely rare paraneoplastic syndrome with less than 300 reported cases. This report highlights the pitfalls and challenges in diagnosing and localizing TIO in patients with refractory and resistant osteomalacia. Patient and methods: 41- year gentleman with 4-year history of musculoskeletal weakness and pathologic fractures presented in wheelchair bound incapacitated state of 1-year duration. Investigations were significant for severe hypophosphatemia, severe phosphaturia, normal serum calcium, reduced 1,25-dihydroxy vitamin-D, elevated ALP, elevated intact parathyroid hormone (iPTH), and pseudo-fractures involving pelvis and bilateral femur. Whole body MRI and 99mTc methylene diphosphonate bone-scan were also normal. Whole body FDG-PET scan involving all 4 limbs revealed a small FDG avid lesion at lateral border of lower end of left femur (SUV max 3.9), which was well characterized on 3-dimensional CT reconstruction. Plasma C-terminal fibroblast growth factor (FGF)-23 was 698 RU/ mL (normal < 150 RU/ml). Wide surgical excision of the tumor was done. Histopathology confirmed mesenchymal tumor of mixed connective tissue variant. Serum phosphorous normalized post-surgery day-1. High dose oral calcium and vitamin-D was continued. FGF-23 normalized post surgery (73RU/ml). Physical strength improved significantly and now he is able to walk independently. Conclusion: TIO is frequently confused with normocalcemic hyperparathyroidism and vitamin-D resistant rickets/osteomalacia, which increases patient morbidity. Imaging for tumor localization should involve whole body from head to tip of digits, cause these tumors are notoriously small and frequently involve digits of hands and legs. Complete surgical removal of the localized tumor is key to good clinical outcomes.

Abstract

Background: Tumor induced osteomalacia (TIO) are extremely rare paraneoplastic syndrome with less than 300 reported cases. This report highlights the pitfalls and challenges in diagnosing and localizing TIO in patients with refractory and resistant osteomalacia. Patient and methods: 41- year gentleman with 4-year history of musculoskeletal weakness and pathologic fractures presented in wheelchair bound incapacitated state of 1-year duration. Investigations were significant for severe hypophosphatemia, severe phosphaturia, normal serum calcium, reduced 1,25-dihydroxy vitamin-D, elevated ALP, elevated intact parathyroid hormone (iPTH), and pseudo-fractures involving pelvis and bilateral femur. Whole body MRI and 99mTc methylene diphosphonate bone-scan were also normal. Whole body FDG-PET scan involving all 4 limbs revealed a small FDG avid lesion at lateral border of lower end of left femur (SUV max 3.9), which was well characterized on 3-dimensional CT reconstruction. Plasma C-terminal fibroblast growth factor (FGF)-23 was 698 RU/ mL (normal < 150 RU/ml). Wide surgical excision of the tumor was done. Histopathology confirmed mesenchymal tumor of mixed connective tissue variant. Serum phosphorous normalized post-surgery day-1. High dose oral calcium and vitamin-D was continued. FGF-23 normalized post surgery (73RU/ml). Physical strength improved significantly and now he is able to walk independently. Conclusion: TIO is frequently confused with normocalcemic hyperparathyroidism and vitamin-D resistant rickets/osteomalacia, which increases patient morbidity. Imaging for tumor localization should involve whole body from head to tip of digits, cause these tumors are notoriously small and frequently involve digits of hands and legs. Complete surgical removal of the localized tumor is key to good clinical outcomes.

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Keywords

hypophosphataemic osteomalacia, tumour induced osteomalacia, phosphatonin, paraneoplastic, fibroblast growth factor

About this article
Title

Occult phosphaturic mesenchymal tumour of femur cortex causing oncogenic osteomalacia — diagnostic challenges and clinical outcomes

Journal

Endokrynologia Polska

Issue

Vol 69, No 2 (2018)

Article type

Case report

Pages

205-210

Published online

2018-02-08

Page views

3053

Article views/downloads

1452

DOI

10.5603/EP.a2018.0016

Pubmed

29442350

Bibliographic record

Endokrynol Pol 2018;69(2):205-210.

Keywords

hypophosphataemic osteomalacia
tumour induced osteomalacia
phosphatonin
paraneoplastic
fibroblast growth factor

Authors

Deep Dutta
Raghuvansh Kumar Pandey
Rakhee Gogoi
Nagender Solanki
Renu Madan
Anupam Mondal
Shruti Dogra
Pradeep Thapa

References (21)
  1. Kulshreshtha B. Octreotide and Cinacalcet Have Limited Role in Managing Surgically Incurable Tumor Induced Osteomalacia. Acta Endo (Buc). 2015; 11(4): 517–523.
    CrossRef
  2. Jan de Beur SM, Streeten EA, Civelek AC, et al. Localisation of mesenchymal tumours by somatostatin receptor imaging. Lancet. 2002; 359(9308): 761–763.
    PubMed
  3. McCance RA. Osteomalacia with Looser's nodes (Milkman's syndrome) due to a raised resistance to vitamin D acquired about the age of 15 years. Q J Med. 1947; 16(1): 33–46.
    PubMed
  4. Jiang Y, Xia Wb, Xing Xp, et al. Tumor-induced osteomalacia: an important cause of adult-onset hypophosphatemic osteomalacia in China: Report of 39 cases and review of the literature. J Bone Miner Res. 2012; 27(9): 1967–1975.
    CrossRefPubMed
  5. Hautmann AH, Schroeder J, Wild P, et al. Tumor-Induced Osteomalacia: Increased Level of FGF-23 in a Patient with a Phosphaturic Mesenchymal Tumor at the Tibia Expressing Periostin. Case Rep Endocrinol. 2014; 2014: 729387.
    CrossRefPubMed
  6. Khosravi A, Cutler CM, Kelly MH, et al. Determination of the elimination half-life of fibroblast growth factor-23. J Clin Endocrinol Metab. 2007; 92(6): 2374–2377.
    CrossRefPubMed
  7. Shimizu Y, Tada Y, Yamauchi M, et al. Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. Bone. 2009; 45(4): 814–816.
    CrossRefPubMed
  8. Endo I, Endo I, Fukumoto S, et al. Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment. Endocr J. 2015; 62(9): 811–816.
    CrossRefPubMed
  9. Yue H, Yu Jb, He Jw, et al. Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. PLoS One. 2014; 9(5): e97830.
    CrossRefPubMed
  10. Sun Zj, Jin J, Qiu Gx, et al. Surgical treatment of tumor-induced osteomalacia: a retrospective review of 40 cases with extremity tumors. BMC Musculoskelet Disord. 2015; 16: 43.
    CrossRefPubMed
  11. Fukumoto S. Anti-fibroblast growth factor 23 antibody therapy. Curr Opin Nephrol Hypertens. 2014; 23(4): 346–351.
    CrossRefPubMed
  12. Basu S, Fargose P. 177Lu-DOTATATE PRRT in Recurrent Skull-Base Phosphaturic Mesenchymal Tumor Causing Osteomalacia: A Potential Application of PRRT Beyond Neuroendocrine Tumors. J Nucl Med Technol. 2016; 44(4): 248–250.
    CrossRefPubMed
  13. Kaneuchi Y, Hakozaki M, Yamada H, et al. Missed causative tumors in diagnosing tumor-induced osteomalacia with (18)F-FDG PET/CT: a potential pitfall of standard-field imaging. Hell J Nucl Med. 2016; 19(1): 46–48.
    CrossRefPubMed
  14. Qari H, Hamao-Sakamoto A, Fuselier C, et al. Phosphaturic Mesenchymal Tumor: 2 New Oral Cases and Review of 53 Cases in the Head and Neck. Head Neck Pathol. 2016; 10(2): 192–200.
    CrossRefPubMed
  15. Clifton-Bligh RJ, Hofman MS, Duncan E, et al. Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT. J Clin Endocrinol Metab. 2013; 98(2): 687–694.
    CrossRefPubMed
  16. Ito N, Shimizu Y, Suzuki H, et al. Clinical utility of systemic venous sampling of FGF23 for identifying tumours responsible for tumour-induced osteomalacia. J Intern Med. 2010; 268(4): 390–394.
    CrossRefPubMed
  17. Jing H, Li F, Zhuang H, et al. Effective detection of the tumors causing osteomalacia using [Tc-99m]-HYNIC-octreotide (99mTc-HYNIC-TOC) whole body scan. Eur J Radiol. 2013; 82(11): 2028–2034.
    CrossRefPubMed
  18. El-Maouche D, Sadowski SM, Papadakis GZ, et al. 68Ga-DOTATATE for Tumor Localization in Tumor-Induced Osteomalacia. J Clin Endocrinol Metab. 2016; 101(10): 3575–3581.
    CrossRefPubMed
  19. Jan de Beur SM. Tumor-induced osteomalacia. JAMA. 2005; 294(10): 1260–1267.
    CrossRefPubMed
  20. 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. 2004; 28(1): 1–30.
    PubMed
  21. Leaf DE, Pereira RC, Bazari H, et al. Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. J Clin Endocrinol Metab. 2013; 98(3): 887–891.
    CrossRefPubMed

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