open access

Vol 69, No 2 (2018)
Case report
Published online: 2018-02-08
Submitted: 2017-03-15
Accepted: 2017-04-07
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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
·
Endokrynologia Polska 2018;69(2):205-210.

open access

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

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)

Pages

205-210

Published online

2018-02-08

DOI

10.5603/EP.a2018.0016

Pubmed

29442350

Bibliographic record

Endokrynologia Polska 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

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