A good advancement of bone remodeling was seen within 49 days after operation. Oncogenic osteomalacia is caused by a small mesenchymal tumour characterised by phosphaturia, hypophosphatemia, decreased serum vitamin d3 level, and osteomalacia. Oncogenic osteomalacia definition of oncogenic osteomalacia. Oncogenic osteomalacia article about oncogenic osteomalacia. Oncogenic osteomalacia is a rare endocrinological paraneoplastic syndrome associated with large or very small mesenchymal tumors that apparently produce osteomalacia and biochemical abnormalities. The resection of the tumor cured her osseous abnormalities. This means that oncogenic osteomalacia, or a subtype of oncogenic osteomalacia, affects less than 200,000 people in the us population. Oncogenic osteomalacia is an unusual syndrome that is characterized by multiple biochemical abnormalities, such as hypophosphatemia, hyperphosphaturia, and low levels of plasma 1,25dihydroxyvitamin. Diagnostic tests for oncogenic osteomalacia including blood tests, urine tests, swabs, diagnostic tests, lab tests, and pathology testing. When oncogenic osteomalacia is suspected, the tumor that is causing the disease must be detected in order to confirm the diagnosis and plan a surgery to remove the tumor.
Most of the abnormal laboratory findings improved within 7 days after the tumor resection. These tumors may be small, obscurely situated, difficult to identify and secrete phosphaturic proteins. Somatostatin analog imaging may aid in localization because of the presence of such receptors in some of these tumors. Technetium99m methylenediphosphonate wholebody scinitigraphy was performed during the initial evaluation. The investigators will scan the patients in suspicion of oncogenic osteomalacia and the confirmed oncogenic osteomalacia patients in suspicion of relapse or with residual tumor after surgery, and compare it to 99mtchynictoc spectct and 18ffdg petct of the same patients. Oncogenic osteomalacia is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. To reduce further expenditure in singapore as a nonresident, he.
Oncogenic osteomalacia also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. Tumorinduced osteomalacia also known as oncogenic osteomalacia is a very rare acquired neoplasm of mesenchymal origin that causes a paraneoplastic syndrome of renal phosphorus loss through the secretion of phosphatonins. Congratulations to the 145 individuals and six resident groups that submitted the most likely diagnosis oncogenic osteomalacia for diagnosis please, case 165. Although oncogenic osteomalacia was suspected, cranial, chest, and abdominal computed tomography scanning, urological and otolaryngological examinations, and detailed palpation for soft tissue mass failed to detect the responsible tumor. It is one of the most interesting paraneoplastic syndromes. Tumors associated with oncogenic osteomalacia express genes. Oncogenic osteomalacia an overview sciencedirect topics. The contents of the phosphaturic mesenchymal tumor page were merged into oncogenic osteomalacia. A case of oncogenic osteomalacia detected by 111in.
Oncogenic osteomalacia associated with phosphaturic. Spencer, bone and in111 octreotide imaging in oncogenic osteomalacia. First, with regard to the appearance and location of the tumors causing oncogenic osteomalacia, we have reported the cases of three patients with hypophosphatemic osteomalacia caused in each case by small asymptomatic tumors 2, 3. Dec 20, 2004 catheterization to locate mesenchymal tumors in patients with tumorinduced osteomalacia or oncogenic osteomalacia the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Oncogenic osteomalacia presenting as a crippling illness. Diagnosing oncogenic osteomalacia is still a challenge. A case of oncogenic osteomalacia is reported in a 71yearold man who presented with bone pain, muscle weakness, and severe hypophosphatemia. Oncogenic osteomalacia is a paraneoplastic syndrome usually associated with mesenchymal tumours, although somatic mutations in adenocarcinomas causing this syndrome have been reported. 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. Oncogenic or tumorinduced osteomalaciarickets is a syndrome characterized by hypophosphatemia, renal phosphate wasting, and decreased serum 1,25dihydroxyvitamin d 3 levels.
Oncogenic osteomalacia associated with phosphaturic mesenchymal tumor of the knee. Catheterization to locate mesenchymal tumors in patients with. In many cases, the tumor is too small to be detected using imaging of. Herfurther improvement was complicated by pulmonary embolism for which she was successfully treated. A syndrome seen in association with mesenchymal tumors and rarely with prostate cancer. The patient is a 62yearwoman who presented to me in 2001 with multiple rib fractures resulting in. Phosphaturic mesenchymal tumour of the mixed connective tissue type pmtmct is the commonest subtype and usually involves a single site.
Oncogenic osteomalacia imaging a rare entity on 68gadotanoc petct. Oncogenic osteomalacia caused by phosphaturie mesenchymal. Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin d, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. We report on a patient with bilateral stress fractures of the tibia who subsequently showed classic biochemical features of oncogenic osteomalacia. Diagnostic utility of magnetic resonance imaging skeletal. The clinical presentation of tio includes bone fractures, bone and muscular pains, and sometimes height and weight loss. Oncogenic osteomalacia annals of internal medicine. The radiologists role in the diagnosis and evaluation of this entity is presented.
A maxillary sinus tumor that caused the syndrome in one patient had the roentgenographic appearance of a mucous. Head and neck is the second most frequent location of these tumours. 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. Nuclear medicine and molecular imaging have been playing a promising role as the firstline imaging modalities in the diagnosis and localization of occult fgf23 secreting mesenchymal tumor, especially with the emerging wholebody, headtotoe ga68dotatate petct technique. The patients symptoms improved almost immediately and serum phosphate concentrations returned to normal. Oncogenic osteomalacia and metastatic breast cancer.
Contributors all authors looked after the patient and wrote the report. Oncogenic osteomalacia presenting as bilateral stress. Magnetic resonace imaging mri of the left foot revealed a bonedestructive tumor that involved the second metatarsal bone figure 4. Tumorinduced osteomalacia, also known as oncogenic osteomalacia, is a rare, acquired paraneoplastic disease characterized by hypophosphatemia and renal phosphate wasting. A case of tumorinduced osteomalacia in a 35yearold woman suffering from severe bone pain and muscle weakness is described. J a parellada, a r balkissoon, c w hayes, w f conway. For the contribution history and old versions of the redirected page, please see. 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. In conclusion, we herein reported a typical but rare case of oom with a maxillary sinus mesenchymal tumor. Oncogenic osteomalacia in a case with a maxillary sinus. Three case reports are presented in which successful localization of the offending neoplasm was accomplished by using wholebody tc 99m sestamibi scanning. Jul 05, 2018 oncogenic osteomalacia most of these are peripheral tumors, but it has been described with an intracranial tumor that mimics a meningioma on imaging. Patients present with recurrent fractures that often heal poorly.
Oncogenic osteomalacia fig1 radiographofproximalfemur. Osteomalacia is bone softening due to insufficient mineralization of the osteoid secondary to any process that results in vitamin d deficiency or defects in phosphate metabolism. Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism suzanne m. Fibroblast growth factor 23 fgf 23 is the most documented protein, but others have also been incriminated.
Soon after surgery, she recovered, resumed her normal life, and went back to jogging. Cases typically are diagnosed in 6 th decade of life. Lots of new research has been done recently medical journals continue to publish case reports of this unusal disease, also known as tumorinduced osteomalacia. However, it is possible that the disease is much more misdiagnosed than rare. Oncogenic osteomalacia is a paraneoplastic syndrome and most such tumours are located in the bone and soft tissue, often making the diagnosis long and difficult.
A rare type of cancer mesenchymal that results in osteomalacia or rickets. Oncogenic osteomalacia secondary to phosphaturic mesenchymal. Oncogenic osteomalacia most of these are peripheral tumors, but it has been described with an intracranial tumor that mimics a meningioma on imaging. Functional and anatomical imaging for early diagnosis of. The disorder is characterized by osteomalacia caused by renal phosphate wasting and low serum concentration of 1,25dihydroxyvitamin d3 occurring in the presence of a tumor that produces high levels of fibroblast growth factor 23. The bone and soft tissue tumor and tumorlike lesions associated with this paraneoplastic syndrome are discussed. Oncogenic osteomalacia is osteomalacia due to the presence of a tumour. Osteomalacia resulting from the presence of a bone or soft tissue lesion or tumor is known as oncogenic osteomalacia or tumorinduced osteomalacia tio adults are usually affected with nonspecific complaints such as bone and muscle pain, weakness, fatigue, and recurrent fractures. To highlight a strategy for potential detection of mesenchymal tumors in oncogenic malacia, as illustrated by 3 cases. Oncogenic osteomalacia is a rare paraneoplastic syndrome of acquired hypophosphatemic osteomalacia, resulting from a deficit in renal tubular phosphate reabsorption, in which fibroblast growth factor 23 fgf23 seems to be implicated. It is commonly caused by overproduction of fibroblast growth factor23 fgf23 from benign tumours of mesenchymal origin. This uncommon disease is characterized by a reduced serum phosphorus level with elevated urinary phosphate excretion, normocalcemia, high serum bone alkaline phosphatase and a deficiency of 1,25 dihydroxyvitamin d 3. Mr imaging revealed symmetric, bilateral, bandlike lowsignal lesions perpendicular to the medial cortex of the tibiae and corresponding to the only lesions subsequently seen on the bone scan. A number of imaging techniques can be used to find the tumor including ct scan, mri, and mr angiography.
Oncogenic osteomalacia due to phosphaturic mesenchymal. The tumors secrete a phosphaturic substance that causes total body phosphate depletion, leading to osteomalacia or rickets. Finnegan, john vassiliadis, brian cook, dana barberio, scott estes, partha manavalan, joseph petroziello, stephen l. It may be caused by a phosphaturic mesenchymal tumor. Dotanoc in oncogenic osteomalacia, the causative tumor is almost always difficult to find. Tumourinduced osteomalacia tio is a rare paraneoplastic syndrome characterised by severe hypophosphataemia and osteomalacia, with renal phosphate wasting that occurs in association with tumour. Biochemical evaluation revealed elevated alkaline phosphatase, marked hypophosphatemia, phosphaturia, vitamin d deficiency, and elevated fibroblast growth factor 23, results that are concerning for oncogenic osteomalacia. Oct 19, 2017 when oncogenic osteomalacia is suspected, the tumor that is causing the disease must be detected in order to confirm the diagnosis and plan a surgery to remove the tumor.
During subsequent imaging with ctmri, 79 patients showed concordant lesions which were excised or biopsied and histopathologically verified as phosphaturic mesenchymal tumours. The deficiency may be due to lack of exposure to ultraviolet rays, inadequate intake of vitamin d. Diagnostic utility of magnetic resonance imaging skeletal survey in a patient with oncogenic osteomalacia. Findings on petct were compared with other anatomic imaging results. Tumorinduced osteomalacia tio also known as oncogenic osteomalacia case followup. Osteomalacia in children is known as rickets, and because of this, use of the term. The phosphaturic mesenchymal tumor of the craniofacial sinuses mixed connective tissue variant is an extremely rare, distinctive paraneoplastic syndrome that is frequently associated with oncogenic osteomalacia. Oncogenic osteomalacia symptoms, diagnosis, treatments and. In oncogenic osteomalacia, the causative tumor is almost always difficult to find. Currently, there is no clear evidence on the management of. Phosphatonins eg, fgf23 decrease renal resorption of phosphate, leading to hypophosphataemia, muscle weakness, and osteomalacia. We report on the case of a 52yearoldman admitted to our hospital for bone and muscular pains and difficulty in walking. In five patients, it was identified a mesenchymal tumour, and clinical improvement occurred after tumour resection suggesting that 111inpentetreotide imaging effectively detects occult mesenchymal tumours and facilitates surgical treatment of oncogenic osteomalacia 23. Oncogenic osteomalacia is an uncommon syndrome characterized by mineral metabolism abnormalities that disappear after the resection of an associated tumour.
Dissanayake consultant physician, middlemore hospital, departments of. 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 best characterized of these molecules is fibroblast growth factor 23, fgf23. Patients with oncogenic osteomalacia frequently present with fractures and more severe pain than that in hypophosphatemic osteomalacia, which it resembles. The removal of the tumor alleviates the osteomalacia. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin d. Imaging in oncogenic osteomalacia for detecting the primary site of tumor is very important, because the localization of primary tumor is very difficult. The tumor which was localized in the left lower mandible was not detected by tomodensitometry, resonance magnetic imaging, and 111 inoctreotide scintigraphy, but was easily localized by f18 fluorodeoxyglucose petct scan f18 fdg petct. Oncogenic osteomalacia is an acquired paraneoplastic syndrome caused by secretion of fibroblast growth factor 23, often resulting in severe bone pain at presentation and a high frequency of fractures. A skeletal xray survey showed a lytic lesion in the right proximal femur, and this was curetted, showing a vascular tumour. Molecular imaging in diagnosis of tumorinduced osteomalacia.
Subsequent imaging showed extensive loss of vertebral height, numerous fractures, and ultimately identified an area. Oncogenic osteomalacia associated with hemangiopericytoma localized by octreotide scan a 37yearold man presented with chronic lower back and chest wall pain. Tumors that can lead to this syndrome are classified histologically as. Cureus oncogenic osteomalacia with elevated fibroblast. Oncogenic osteomalacia secondary to a metastatic phosphaturi. He underwent a computed tomography ct scan of the legs that documented fractures in the right tibia. The aim of this study was to evaluate the role of 68 gadotanoc positron emission tomography petct scan in localization of culprit lesion for biopsy and required intervention surgical excisionradiofrequency ablation rfa in patients with longstanding oncogenic osteomalacia oomtumourinduced osteomalacia. However, magnetic resonance imaging skeletal survey revealed a tumor in the right femoral bone.
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