Phosphate is important for keeping bones strong and healthy. Oncogenic osteomalacia associated with phosphaturic mesenchymal tumor of the knee. Oncogenic osteomalacia also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. The culprit tumors of tio could produce fibroblast growth factor 23 which plays a role in regulating renal pi handling and 25hydroxyvitamin d 1. Oncogenic osteomalacia, also known as tumourinduced osteomalacia tio is a rare paraneoplastic syndrome of abnormal phosphate and vitamin d metabolism caused by typically small endocrine tumours that secrete fgf23 a phosphatonin. Full text full text is available as a scanned copy of the original print version. This report highlights the pitfalls and challenges in diagnosing and localizing tio in patients with refractory and resistant osteomalacia. Get a printable copy pdf file of the complete article 3. Patients with oncogenic osteomalacia frequently present with fractures and more severe pain than that in hypophosphatemic osteomalacia, which it resembles. Tumorinduced osteomalacia tio is a rare paraneoplastic form of renal phos phate wasting that results in severe hypophosphatemia, a defect in vitamin d.
Phosphaturic mesenchymal tumor, mixed connective tissue variant pmtmct is a rare tumor typically occurring in soft tissues and bone, causing oncogenic tumorinduced osteomalacia tio through secretion of the phosphaturic hormone, fibroblast growth factor23 fgf23. Oncogenic osteomalacia oo is a rare paraneoplastic syndrome of osteomalacia due to phosphate wasting. These tumor are mesenchymal tumors and express serotonin receptors sst1 to sst5. Osteomalacia has been associated with benign and malignant solid tissue and mesenchymal tumors. Any information contained in this pdf file is automatically generated from digital material submitted to epos by third parties in the form of scientific presentations. Clinical and biochemical improvements typically occur within a. The radiologists role in the diagnosis and evaluation of this entity is presented. Here, we discuss difficulties in the diagnosis of oncogenic osteomalacia using the example of our. Osteomalacia is the softening of bones that is often associated with the failure of adequate calcification as a result of renal dysfunction or a lack of vitamin d. These abnormalities produce osteomalacia in adults and rickets in children, which clinically manifest as muscle weakness, bone pain, and. Diagnosis of oncogenic osteomalacia is difficult due to the varieties and. The chart showing pdf series, word series, html series, scan qr codes.
A skeletal xray survey showed a lytic lesion in the right proximal femur, and this was curetted, showing. Each tumour was found after an intensive search for occult masses. Tumorinduced osteomalacia, also known as oncogenic hypophosphatemic osteomalacia or oncogenic osteomalacia, is a paraneoplastic syndrome that presents with muscle weakness, bone pain, and osteomalacia in association with specific tumors and overexpression of fgf23 3, 4. It is predominantly driven by a small, benign mesenchymal tumor. Osteomalacia in adults starts insidiously as aches and pains in the lumbar lower back region and thighs before spreading to the arms and ribs.
Tumor induced osteomalacia tio, also called oncogenic hypophosphatemic osteomalacia, is an uncommon disorder that results from tumor secretion of a. Osteomalacia, a common metabolic disease, has multiple familiar and a few less wellappreciated etiologies. Oncogenic osteomalacia fig1 radiographofproximalfemur. Context oncogenic osteomalacia, a paraneoplastic syndrome associated with hypophosphatemia due to increased urinary phosphate excretion, is caused by excessi. Oncogenic osteomalacia is an uncommon syndrome characterized by mineral metabolism abnormalities that disappear after the resection of an associated tumour. Nasal hemangiopericytoma causing oncogenic osteomalacia. One of the latter, known as oncogenic, paraneoplastic, oncogenous, or tumorinduced osteomalacia tio, is regarded as relatively rare with fewer than 150 reported cases. Rare tumors identical to pmtmct occur without known tio.
Osteomalacia is characterized by defective mineralization and low bone mineral density bmd. Oncogenic osteomalacia a complex dance of factors nejm. Tumor induced osteomalacia tio are extremely rare paraneoplastic syndrome with less than 300 reported cases. In oncogenic osteomalacia it is very low, and in xlinked hypophosphatemic rickets it is lower than it should be for the level of phosphate.
Two patients presented with hypophosphataemic osteomalacia and were subsequently found to have small tumours unusual histopathology and location causing the osteomalacia. Oncogenic osteomalacia associated with phosphaturic. Oncogenic osteomalacia due to fgf23expressing colon. Tumourinduced osteomalacia tioalso referred to as oncogenic osteomalacia is an underrecognized paraneoplastic syndrome that occurs due to an over production of fgf23 by small benign soft tissue or bone related mesenchymal tumours.
The patient is a 62yearwoman who presented to me in 2001 with multiple rib fractures resulting in. The tumor responsible for the symptoms and signs of oncogenic osteomalacia are usually very small in size and may be located in almost any part of the body. Oncogenic osteomalacia and renal adenomatoid dysplasia. Oncogenic osteomalacia, or tumorinduced osteomalacia, is a rare, serious paraneoplastic syndrome. A doctor should rule out other causes of these symptoms.
A reversible metabolic bone disorder dinesh kumar dhanwal professor of medicine, endocrinology division, maulana azad medical college, new delhi, india. The disease is readily prompted by the clinical features such as hyperphosphaturia, hypophosphatemia, low serum vitamin d3 levels, elevated serum fibroblast growth factor 23 levels. Tumorinduced osteomalacia tio, also known oncogenic osteomalacia, is a rare paraneoplastic syndrome of abnormal phosphate and vitamin metabolism caused by typically small endocrine tumors that secrete the phosphaturic hormone, fibro blast growth factor 23 fgf23. Osteomalacia causes multiple bone fractures and severe pain. Our case arose in a 47yearold woman presenting a nasal mass associated with osteomalacia. Several points may lead one to question this claim. The bone and soft tissue tumor and tumorlike lesions associated with this paraneoplastic syndrome are discussed. Tumorinduced osteomalacia tio also known as oncogenic. Oncogenic osteomalacia annals of internal medicine. Pdf on jun 1, 2018, ak annamalai and others published oncogenic osteomalacia. Links to pubmed are also available for selected references. In this paper, we present the case of a patient, 42yearold woman affected by left. Clinical effects of advanced tumorinduced osteomalacia tio.
Occult phosphaturic mesenchymal tumour of femur cortex. Pdf oncogenic osteomalacia, also known as tumour induced. Oncogenic osteomalacia is a rare condition with a unique serum biochemical profile that requires a high index of suspicion for diagnosis. Oncogenic osteomalacia was diagnosed and functional imaging with a 68gadotanocpet revealed. Oncogenic osteomalacia symptoms, diagnosis, treatments and. Role of ga68 dotanoc petct scan in identifying the culprit lesion and its management article pdf available in british journal of radiology 901072. Oncogenic osteomalacia is a rare cause that makes abnormalities of bone metabolism. We report the case of a 50yearold woman with oncogenic osteomalacia secondary to a metastatic phosphaturic mesenchymal tumor pmt that presented, to our knowledge, with the first reported lesion in the talus. The removal of the tumor alleviates the osteomalacia.
Successful treatment of tumorinduced osteomalacia due to an intracranial tumor by fractionated stereotactic radiotherapy. The traditional name for this peculiar disorder connotes its classification as a paraneoplastic phenomenon. Oncogenic osteomalacia oom, also known as tumourinduced osteomalacia tio, is a rare syndrome, usually presents with complaints of bone pain, recurrent fractures at multiple sites, decrease in height, muscle atrophy and wholebody weakness. This occurs when a tumor secretes a substance called fibroblast growth factor 23 fgf23. Tumorinduced osteomalacia is a paraneoplastic syndrome of hypophosphatemia. We report a rare case of oncogenic osteomalacia in a patient with an anterior skull base giant cell tumor. Taylor and associates 1 report the case of a patient they claim had oncogenic osteomalacia and inappropriate antidiuretic hormone secretion due to oatcell carcinoma. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin d. In a case of uncertain hypophosphataemic osteomalacia in adults it is essential to search for a tumour after exclusion of the rare differential diagnoses to enable a causal treatment of a potentially oncogenic osteomalacia. Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. Oncogenic osteomalacia associated with mesenchymal tumor. Oncogenic osteomalacia oom is an uncommon metabolic and bone disease caused by fibroblast growth factor 23 fgf23, a phosphaturic factor produced by phosphaturic mesenchymal tumors mixed connective tissue variant, pmtmctv characterized by phosphate leakage from kidneys and subsequent hypophosphatemia.
Intracranial localization of pmtmct is extremely rare. There was a problem providing the content you requested. Fgf23 measurements might improve the management of oncogenic osteomalacia. Oncogenic osteomalacia or tumor induced osteomalacia, is an acquired paraneoplastic syndrome. Severe osteomalacia confirmed by the examination of thin undecalcified bone biopsy sections associated with hypophosphataemia developed in a 60 year old woman. We present a case of oncogenic osteomalacia in a 29yearold female, who.
Oncogenic osteomalacia is a paraneoplastic syndrome usually associated with mesenchymal tumours, although somatic mutations in adenocarcinomas causing this syndrome have been reported. Background oncogenic osteomalacia is a rare paraneoplastic syndrome characterized by osteomalacia, which occurs as a result of excess renal phosphate excretion caused by fibroblast growth factor23 secreted by mesenchymal tumors. The deficiency may be due to lack of exposure to ultraviolet rays, inadequate intake of vitamin d. A 36yearold male presented with a 5year history of progressive generalized body ache, severe. Find, read and cite all the research you need on researchgate. Such unspecific symptoms hinder the establishment of a proper diagnosis which very often requires longlasting investigations with many diagnostic imaging methods. Therapy supportive treatment with calcitriol up to 3 mcgday and phosphate 24 gramsday will improve the osteomalacia and the muscle weakness. Hypophosphatemic rickets xlinked dominant autosomal dominant males affected more than females commonest inherited form of rickets prevalence 1. A rare type of cancer mesenchymal that results in osteomalacia or rickets. The tumor was successfully resected by using a middle fossa epidural approach. Phosphatonins eg, fgf23 decrease renal resorption of phosphate, leading to hypophosphataemia, muscle weakness, and osteomalacia. References to any names, marks, products, or services of third parties or hypertext links to third. We report a case of tumorinduced osteomalacia caused by a. Head and neck is the second most frequent location of these tumours.
Biochemical hallmarks of the disorder are hypophosphatemia due to renal phosphate wasting, inappropriately normal or low 1,25dihydroxy vitamin d, and elevated or. It may be caused by a phosphaturic mesenchymal tumor. Taylor and colleagues 1 reported the case of a patient with oncogenic osteomalacia due to oatcell carcinoma, and cited another case of a nonmesenchymal tumor related to a prostatic carcinoma 2. We report the case of a 57yearold japanese man with tumorinduced osteomalacia associated with a middle cranial fossa bone tumor. Earlier skeletal survey, whole body mri and indium111 labeled octreotide scans. Oncogenic osteomalacia genetic and rare diseases information. Fgf23 inhibits the ability of the kidneys to absorb phosphate. Tumor induced osteomalacia oncogenic osteomalacia hereditary hypophosphatemic rickets. Oncogenic osteomalacia has fascinated physiologyminded physicians for decades. Cases typically are diagnosed in 6 th decade of life. Oncogenic osteomalacia caused by a phosphaturic mesenchymal. The clinical manifestation of oncogenic osteomalacia includes bone pain, pathological fractures, general fatigue and muscle weakness. Oncogenic osteomalacia from nasal cavity giant cell tumor.