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Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma.


ABSTRACT:

Context

Oncogenic osteomalacia, a paraneoplastic syndrome associated with hypophosphatemia due to increased urinary phosphate excretion, is caused by excessive synthesis and secretion of fibroblast growth factor 23 (FGF23), a phosphaturic hormone that is normally produced by osteocytes. Most cases of oncogenic osteomalacia have been associated with benign tumors of bone or soft tissue; however, whether malignant neoplasms can also produce and secrete FGF23 is currently unknown.

Objective

The aim was to determine whether a malignant neoplasm could cause oncogenic osteomalacia through excessive production and secretion of FGF23.

Setting

We describe an 80-year-old woman with stage IV colon adenocarcinoma who presented with severe hypophosphatemia (0.4 mg/dL; reference, 2.6-4.5 mg/dL).

Results

Fractional excretion of phosphate was 34% (reference, <5% in the setting of hypophosphatemia), and plasma levels of FGF23 were highly elevated at 674 RU/mL (reference, <180 RU/mL). Immunohistochemical analysis of the patient's tumor showed strong staining for FGF23. Genetic analyses revealed a point mutation in the KRAS gene.

Conclusions

We present the first case in which a malignant neoplasm is documented to produce and secrete FGF23, leading to renal phosphate-wasting. Oncogenic osteomalacia should be considered in the differential diagnosis for patients with a malignant tumor who present with hypophosphatemia.

SUBMITTER: Leaf DE 

PROVIDER: S-EPMC3590480 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Publications

Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma.

Leaf David E DE   Pereira Renata C RC   Bazari Hasan H   Jüppner Harald H  

The Journal of clinical endocrinology and metabolism 20130207 3


<h4>Context</h4>Oncogenic osteomalacia, a paraneoplastic syndrome associated with hypophosphatemia due to increased urinary phosphate excretion, is caused by excessive synthesis and secretion of fibroblast growth factor 23 (FGF23), a phosphaturic hormone that is normally produced by osteocytes. Most cases of oncogenic osteomalacia have been associated with benign tumors of bone or soft tissue; however, whether malignant neoplasms can also produce and secrete FGF23 is currently unknown.<h4>Object  ...[more]

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