Oncogenic osteomalacia secondary to phosphaturic mesenchymal tumor

Case contributed by Harshad Arvind Vanjare , 14 Feb 2018
Diagnosis certain
Changed by Harshad Arvind Vanjare, 15 Feb 2018

Updates to Case Attributes

Status changed from draft to pending review.
Body was changed:

Oncogenic osteomalacia or tumour induced osteomalacia, is an acquired para-neoplastic syndrome

Cases typically are diagnosed in 6th decade of life

Tumours that can lead to this syndrome are classified histologically as:

  1. —Phosphaturic mesenchymal tumours with mixed connective tissue (70 -80%)
  2. —Osteoblastoma like tumours
  3. —Ossifying fibrous like tumours
  4. —Nonossifying fibrous like tumours

These tumours are often small in size and difficult to localize

The average time between onset of symptoms and tumour localization is ~ 7 years

These tumours often express somatostatin receptors

Therefore, scintigraphy using somatostatin analogue can be used for tumour localization

Cases can have elevated serum Fibroblast Growth Factor 23 (FGF-23) levels

FDG PET scan can be used for tumour localisation and is been increasingly used

Treatment:

Tumour resection is the preferred treatment option

Post-surgery FGF-23 levels fall off drastically

Serum phosphate and 1,25-dihydroxy vitamin D levels return to normal levels within days

Long term skeletal changes reverse within months

  • -</ol><p> </p><p>These tumours are often <strong>small in size and difficult to localize</strong></p><p>The average time between onset of symptoms and tumour localization ~ 7 years</p><p>These tumours often express somatostatin receptors</p><p>Therefore, scintigraphy using somatostatin analogue can be used for tumour localization</p><p>Cases can have elevated serum Fibroblast Growth Factor 23 (FGF-23) levels</p><p>FDG PET scan can be used for tumour localisation and is been increasingly used</p><p> </p><p>Treatment:</p><p>Tumour resection is the preferred treatment option</p><p>Post-surgery FGF-23 levels fall off drastically</p><p>Serum phosphate and 1,25-dihydroxy vitamin D levels return to normal levels within days</p><p>Long term skeletal changes reverse within months</p><p> </p><p> </p><p> </p>
  • +</ol><p> </p><p>These tumours are often <strong>small in size and difficult to localize</strong></p><p>The average time between onset of symptoms and tumour localization is ~ 7 years</p><p>These tumours often express somatostatin receptors</p><p>Therefore, scintigraphy using somatostatin analogue can be used for tumour localization</p><p>Cases can have elevated serum Fibroblast Growth Factor 23 (FGF-23) levels</p><p>FDG PET scan can be used for tumour localisation and is been increasingly used</p><p> </p><p>Treatment:</p><p>Tumour resection is the preferred treatment option</p><p>Post-surgery FGF-23 levels fall off drastically</p><p>Serum phosphate and 1,25-dihydroxy vitamin D levels return to normal levels within days</p><p>Long term skeletal changes reverse within months</p><p> </p><p> </p><p> </p>
Presentation was changed:
Middle ageaged lady with progressive generalised bone pain for 6 years. Progressive weakness for 2 years. Requiring support while walking at presentation.

References changed:

  • 1. Weidner N. Review and Update: Oncogenic Osteomalacia-Rickets. Ultrastruct Pathol. 1991;15(4-5):317-33. <a href="https://doi.org/10.3109/01913129109016242">doi:10.3109/01913129109016242</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/1755097">Pubmed</a>
  • 3. Folpe A, Fanburg-Smith J, Billings S et al. Most Osteomalacia-Associated Mesenchymal Tumors Are a Single Histopathologic Entity. Am J Surg Pathol. 2004;28(1):1-30. <a href="https://doi.org/10.1097/00000478-200401000-00001">doi:10.1097/00000478-200401000-00001</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/14707860">Pubmed</a>
  • 2. Chong W, Molinolo A, Chen C, Collins M. Tumor-Induced Osteomalacia. Endocr Relat Cancer. 2011;18(3):R53-77. <a href="https://doi.org/10.1530/erc-11-0006">doi:10.1530/erc-11-0006</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21490240">Pubmed</a>

Updates to Study Attributes

Findings was changed:

PoolingCompared to the previous 'blood pool scintigraphy' done 8 years ago, the present study demonstrated increased tracer pooling the region of tracer in the upper nasal and left frontal regionanterior skull base

MRI scan was done for further evaluation. 

Updates to Study Attributes

Findings was changed:

Well defined lobulated solid cystic mass in the left basifrontal region with extension into the olfactory groove. Surrounding mass effect with midline shift to right. 

Images Changes:

Image MRI (T2 fat sat) ( update )

Description was changed:
Well defined lobulated solid cystic mass in the left basifrontal region with extension into the olfactory groove. Surrounding mass effect with midline shift to right.

Updates to Study Attributes

Findings was changed:

Blood pool scintigraphy with pooling of tracer in the region of right upper nasal cavityanterior skull base

Updates to Study Attributes

Caption was changed:
CT done to look for any obvious upper nasalanterior skull base abnormality
Findings was changed:

CT scan did not demonstrate any obvious abnormality in the upper nasalanterior skull base region.

Updates to Freetext Attributes

Description was changed:

Summary till now:

—Middle

  • Middle aged woman

    —Progressive

  • Progressive bone pains with difficulty in walking

    —On

  • On imaging severe osteopenia with multiple fractures

    —On

  • On blood investigations hypophosphatemia

Provisional diagnosis:

  • Adult onset hypophosphatemic osteomalacia. 

UndeterminedEvaluated to assess the cause.

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