A reversible metabolic bone disorder dinesh kumar dhanwal professor of medicine, endocrinology division, maulana azad medical college, new delhi, india. Two patients presented with hypophosphataemic osteomalacia and were subsequently found to have small tumours unusual histopathology and location causing the osteomalacia. Oncogenic osteomalacia is a rare cause that makes abnormalities of bone metabolism. Herfurther improvement was complicated by pulmonary embolism for which she was successfully treated. The chart showing pdf series, word series, html series, scan qr codes.
This occurs when a tumor secretes a substance called fibroblast growth factor 23 fgf23. The patient is a 62yearwoman who presented to me in 2001 with multiple rib fractures resulting in. Occult phosphaturic mesenchymal tumour of femur cortex. The clinical manifestation of oncogenic osteomalacia includes bone pain, pathological fractures, general fatigue and muscle weakness. Head and neck is the second most frequent location of these tumours. Oncogenic osteomalacia from nasal cavity giant cell tumor. These tumor are mesenchymal tumors and express serotonin receptors sst1 to sst5. Rare tumors identical to pmtmct occur without known tio. 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. 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. We report the case of a 57yearold japanese man with tumorinduced osteomalacia associated with a middle cranial fossa bone tumor.
Oncogenic osteomalacia associated with phosphaturic. Tumorinduced osteomalacia tio is a rare paraneoplastic form of renal phos phate wasting that results in severe hypophosphatemia, a defect in vitamin d. Oncogenic osteomalacia oo is a rare paraneoplastic syndrome of osteomalacia due to phosphate wasting. Such unspecific symptoms hinder the establishment of a proper diagnosis which very often requires longlasting investigations with many diagnostic imaging methods. A skeletal xray survey showed a lytic lesion in the right proximal femur, and this was curetted, showing. Clinical effects of advanced tumorinduced osteomalacia tio. 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. It is predominantly driven by a small, benign mesenchymal tumor. Phosphate is important for keeping bones strong and healthy. Osteomalacia is characterized by defective mineralization and low bone mineral density bmd. Context oncogenic osteomalacia, a paraneoplastic syndrome associated with hypophosphatemia due to increased urinary phosphate excretion, is caused by excessi.
Oncogenic osteomalacia a complex dance of factors nejm. Our case arose in a 47yearold woman presenting a nasal mass associated with osteomalacia. Osteomalacia, a common metabolic disease, has multiple familiar and a few less wellappreciated etiologies. We present a case of oncogenic osteomalacia in a 29yearold female, who. 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 and renal adenomatoid dysplasia. Clinical and biochemical improvements typically occur within a. Biochemical hallmarks of the disorder are hypophosphatemia due to renal phosphate wasting, inappropriately normal or low 1,25dihydroxy vitamin d, and elevated or.
Severe osteomalacia confirmed by the examination of thin undecalcified bone biopsy sections associated with hypophosphataemia developed in a 60 year old woman. A doctor should rule out other causes of these symptoms. 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. Title gallium 68 dotanoc pet ct scan for evaluation of. Oncogenic osteomalacia was diagnosed and functional imaging with a 68gadotanocpet revealed. Oncogenic osteomalacia is an uncommon syndrome characterized by mineral metabolism abnormalities that disappear after the resection of an associated tumour. In this paper, we present the case of a patient, 42yearold woman affected by left. The radiologists role in the diagnosis and evaluation of this entity is presented. Osteomalacia has been associated with benign and malignant solid tissue and mesenchymal tumors. A 36yearold male presented with a 5year history of progressive generalized body ache, severe. 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. 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. Oncogenic osteomalacia fig1 radiographofproximalfemur. The tumor is composed of small spindle cells em bedded in a grungy myxoid matrix, often containing ar.
Each tumour was found after an intensive search for occult masses. 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. Tumorinduced osteomalacia is a paraneoplastic syndrome of hypophosphatemia. Cases typically are diagnosed in 6 th decade of life. Tumor induced osteomalacia tio, also called oncogenic hypophosphatemic osteomalacia, is an uncommon disorder that results from tumor secretion of a. Tumor induced osteomalacia tio are extremely rare paraneoplastic syndrome with less than 300 reported cases. Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. Therapy supportive treatment with calcitriol up to 3 mcgday and phosphate 24 gramsday will improve the osteomalacia and the muscle weakness. The culprit tumors of tio could produce fibroblast growth factor 23 which plays a role in regulating renal pi handling and 25hydroxyvitamin d 1. Patients with oncogenic osteomalacia frequently present with fractures and more severe pain than that in hypophosphatemic osteomalacia, which it resembles. Oncogenic osteomalacia has fascinated physiologyminded physicians for decades.
Oncogenic osteomalacia associated with phosphaturic mesenchymal tumor of the knee. These abnormalities produce osteomalacia in adults and rickets in children, which clinically manifest as muscle weakness, bone pain, and. 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. We report a rare case of oncogenic osteomalacia in a patient with an anterior skull base giant cell tumor. Feldman md, facr, in imaging of arthritis and metabolic bone disease, 2009. Osteomalacia in adults starts insidiously as aches and pains in the lumbar lower back region and thighs before spreading to the arms and ribs. Oncogenic osteomalacia is a paraneoplastic syndrome usually associated with mesenchymal tumours, although somatic mutations in adenocarcinomas causing this syndrome have been reported. One of the latter, known as oncogenic, paraneoplastic, oncogenous, or tumorinduced osteomalacia tio, is regarded as relatively rare with fewer than 150 reported cases. Osteomalacia causes multiple bone fractures and severe pain. Oncogenic osteomalacia annals of internal medicine. 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, or tumorinduced osteomalacia, is a rare, serious paraneoplastic syndrome. Oncogenic osteomalacia also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia.
Oncogenic osteomalacia symptoms, diagnosis, treatments and. 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. Role of ga68 dotanoc petct scan in identifying the culprit lesion and its management article pdf available in british journal of radiology 901072. The removal of the tumor alleviates the osteomalacia. Oncogenic osteomalacia due to fgf23expressing colon. Nasal hemangiopericytoma causing oncogenic osteomalacia. Intracranial localization of pmtmct is extremely rare.
Find, read and cite all the research you need on researchgate. 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. Get a printable copy pdf file of the complete article 3. Oncogenic osteomalacia genetic and rare diseases information. Oncogenic osteomalacia or tumor induced osteomalacia, is an acquired paraneoplastic syndrome.
Oncogenic osteomalacia is a rare condition with a unique serum biochemical profile that requires a high index of suspicion for diagnosis. Pdf oncogenic osteomalacia, also known as tumour induced. Here, we discuss difficulties in the diagnosis of oncogenic osteomalacia using the example of our. Intracranial phosphaturic mesenchymal tumor, mixed. A rare type of cancer mesenchymal that results in osteomalacia or rickets. 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. Taylor and associates 1 report the case of a patient they claim had oncogenic osteomalacia and inappropriate antidiuretic hormone secretion due to oatcell carcinoma. Successful treatment of tumorinduced osteomalacia due to an intracranial tumor by fractionated stereotactic radiotherapy. In oncogenic osteomalacia it is very low, and in xlinked hypophosphatemic rickets it is lower than it should be for the level of phosphate. Oncogenic osteomalacia is diagnosed when an individual has signs and symptoms consistent with the disease such as fractures, bone weakening, and low levels of phosphate in the blood hypophosphatemia. Links to pubmed are also available for selected references.
Tumorinduced osteomalacia tio also known as oncogenic. 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. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin d. The tumor was successfully resected by using a middle fossa epidural approach. Oncogenic osteomalacia an overview sciencedirect topics. It may be caused by a phosphaturic mesenchymal tumor. Fgf23 inhibits the ability of the kidneys to absorb phosphate. Pdf on jun 1, 2018, ak annamalai and others published oncogenic osteomalacia. 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. Studies of vitamin d metabolism and renal tubular function before and after surgery yielded further insight into the pathophysiology of. Fgf23 measurements might improve the management of oncogenic osteomalacia. A skeletal xray survey showed a lytic lesion in the right proximal femur, and this was curetted, showing a vascular tumour. Earlier skeletal survey, whole body mri and indium111 labeled octreotide scans. Oncogenic osteomalacia caused by a phosphaturic mesenchymal. Oncogenic osteomalacia is an unusual syndrome that is characterized by multiple biochemical abnormalities, such as hypophosphatemia, hyperphosphaturia, and low levels of plasma 1,25dihydroxyvitamin d. The bone and soft tissue tumor and tumorlike lesions associated with this paraneoplastic syndrome are discussed. Hypophosphatemic rickets xlinked dominant autosomal dominant males affected more than females commonest inherited form of rickets prevalence 1. Diagnosis of oncogenic osteomalacia is difficult due to the varieties and.