Tumorinduced osteomalacia tio is a rare and fascinating paraneoplastic syndrome in which patients present with bone pain, fractures, and muscle weakness. Successful treatment of tumorinduced osteomalacia due to an. Reports from the indian subcontinent are scarce, with most being single center experiences involving few patients. Tumorinduced osteomalacia is usually referred to as a paraneoplastic phenomenon, however, the tumors are usually benign and the symptomatology is due to osteomalacia or rickets. Tumorinduced osteomalacia international journal of. Slowgrowing benign mesenchymal or mixed connective tissue tumors are typically responsible for the syndrome, although other histologic types including carcinomas and sarcomas have. Endocrine paraneoplastic syndromes are distant manifestations of some tumours. Jan 08, 2016 tumour induced osteomalacia tio is a rare paraneoplastic syndrome characterised by severe hypophosphataemia and osteomalacia, with renal phosphate wasting that occurs in association with tumour. Nonspecific symptoms including fatigue, bone pain, and musculoskeletal weakness make. Tumorinduced osteomalacia tio and epidermal nevus syndrome ens are rare diseases of excess fibroblast growth factor 23 fgf23 that are characterized by hypophosphatemia secondary to phosphaturia and impaired active vitamin d synthesis that results in bone pain, osteomalacia, fractures, and muscle weakness. Tumorinduced osteomalacia tio is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. Oncogenic osteomalacia, or tumor induced osteomalacia tio, is an acquired paraneoplastic syndrome. Tumorinduced osteomalacia tio is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term osteomalacia is often restricted to the milder, adult form of the disease.
Apr 23, 2015 tumor induced osteomalacia tio is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. Tumour induced osteomalacia tio is a rare paraneoplastic syndrome characterised by severe hypophosphataemia and osteomalacia, with renal phosphate wasting that occurs in association with tumour. Bgj398 for the treatment of tumorinduced osteomalacia full. Laboratory testing was remarkable for low serum phosphorus. The impairment of bone metabolism causes inadequate bone mineralization.
Tumor induced osteomalacia tio also known as oncogenic osteomalacia case followup. Presence of bony cyst brown tumor rickets and osteomalacia the distal ends of the radius and ulna display extensive cupping, fraying, and splaying of. This debilitating disorder is illustrated by the clinical presentation of a. Tumorinduced osteomalacia tio is a rare, paraneoplastic disease that can be difficult to distinguish from genetic forms of hypophosphatemia and severe osteomalacia. The clinical presentation of tio includes bone fractures, bone and muscular pains, and sometimes height and weight loss. Tumorinduced osteomalacia tio is a rare paraneoplastic syndrome characterized by recalcitrant hypophosphatemia. It is caused by tumoral overproduction of fibroblast growth factor 23 fgf23 producing hypophosphatemia and osteomalacia. Phosphaturic mesenchymal tumor of the brain without tumorinduced osteomalacia in an 8yearold girl.
Tumour induced osteomalacia tio is a rare paraneoplastic syndrome clinical presentation of which includes bone fractures, bone and muscular pains, and sometimes loss of height and even weight. Tumourinduced osteomalacia tio, also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 fgf23. Osteomalacia in children is known as rickets, and because of this, use of the term. Successful treatment of dialysis osteomalacia oop concepts pdf and. Osteomalacia causes multiple bone fractures and severe pain.
As noted by bower and colleagues, though extremely rare to present without tumorinduced osteomalacia or phosphaturia, pmtmct may present intracranially without such typical associated symptoms. Since tio was first described in 1947, more than 500 cases have been reported worldwide. Tumorinduced osteomalacia geriatrics jama jama network. Tumorinduced osteomalacia caused by primary fibroblast. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Tumorinduced osteomalacia localization by wholebody. Apr 27, 2018 tumor induced osteomalacia tio is a rare disorder in which fibroblast growth factor fgf23producing neoplasms cause renal phosphate wasting and skeletal disease. The clinical presentation of tio includes bone fractures, bone and muscular pains, and. Listing a study does not mean it has been evaluated by the u. Effects of krn23, an antifgf23 antibody in patients with. A 77yearold man was suspected of having tumorinduced osteomalacia tio because of hypophosphatemia 1. Tumor induced osteomalacia tio is a rare disease, which causes hyperphosphaturia and hypophosphatemia with inappropriately normal or low 1,25dihydroxyvitamin d. Fgf23 inhibits the ability of the kidneys to absorb phosphate.
The resection of the tumor cured her osseous abnormalities. Tumorinduced osteomalacia tio also known as oncogenic osteomalacia case followup. Tumorinduced osteomalacia tio is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia related to abnormal tumor production of fibroblast growth factor 23 fgf23 1, 2. Tumor induced osteomalacia tio is a rare paraneoplastic syndrome, characterized by tumor secretion of fibroblast growth factor23 fgf23 causing hypophosphatemia due to renal phosphate wasting. Tumorinduced osteomalacia localization by wholebody sestam. Mbbs,dch,cabp, frcpuk consultant, pediatric endocrinologist. Definitive therapy, it can be associated with considerable morbidity depending on the. 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.
Several different disorders cause osteomalacia via mechanisms that result in hypocalcemia, hypophosphatemia, or direct inhibition of the mineralization process. Tumor induced 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. Tio is an acquired hypophosphatemic osteomalacia caused by decreased phosphorus reabsorption in the renal tubules and increased renal phosphorus. Tumorinduced osteomalacia orthopaedicsone articles. Flow chart of tumorinduced osteomalacia diagnosis and. Tumorinduced osteomalacia tio is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia, a defect in vitamin d metabolism, and osteomalacia. Catheterization to locate mesenchymal tumors in patients. Intracranial phosphaturic mesenchymal tumor, mixed. Tumorinduced osteomalacia tio is a rare paraneoplastic syndrome, characterized by tumor secretion of fibroblast growth factor23 fgf23 causing hypophosphatemia due to renal phosphate wasting. The tumor was successfully resected by using a middle fossa epidural approach. Tumorinduced osteomalacia oncogenic osteomalacia is a clinicopathologic entity in which vitamin dresistant osteomalacia or rickets occurs in association with a bone or soft tissue tumor. Rare and fascinating paraneoplastic syndrome paraneoplastic syndromes refer to the disorders that accompany benign or malignant tumors but are not directly related to mass effects or invasion by the primary tumor or its metastases. Herein, we conducted a retrospective analysis of 30 patients of tio diagnosed at three tertiary care hospitals in india.
An uncommon but increasingly reported form is tumourinduced osteomalacia. Sep 21, 2017 tumor induced osteomalacia tio is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia related to abnormal tumor production of fibroblast growth factor 23 fgf23 1, 2. Jul, 2017 tumour induced osteomalacia tio, also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 fgf23. Tumorinduced osteomalacia with normal systemic fibroblast. Catheterization to locate mesenchymal tumors in patients with. Tumorinduced osteomalacia and rickets clinical gate. Most of the tumors are phosphaturic mesenchymal tumors pmts, which are small and difficult to detect.
Fgf23 is responsible for regulating levels of phosphate and vitamin d in the body by telling the kidneys how much phosphate to absorb and how much phosphate to release from the body in the urine. The majority of tumorinduced osteomalacia cases have been reported in the northern hemisphere and asia. Tumor induced osteomalacia tio is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia, a defect in vitamin d metabolism, and osteomalacia. Soon after surgery, she recovered, resumed her normal life, and went back to jogging. The histopathologic analysis revealed that the metatarsal lesion was a mesenchymal tumor. Tumorinduced osteomalacia is a paraneoplastic syndrome of hypophosphatemia. Synonyms for tumor induced osteomalacia in free thesaurus. What are osteomalacia rickets osteomalacia disorder of mature bone in which mineralization of new osteoid bone is inadequate or delayed rickets disease of growing bones in which defective mineralization occurs in both bone and cartilage of epiphyseal growth plate, associated with. Tumors that can lead to this syndrome are classified histologically as phosphaturic mesenchymal tumors with mixed connective tissue, osteoblastomalike tumors, ossifying fibrouslike tumors, or nonossifying fibrouslike tumors 1, 2. Oct 19, 2017 tumor induced osteomalacia is caused by the development of a tumor that releases fibroblast growth factor 23 fgf23. Tumor induced osteomalacia oncogenic osteomalacia is a clinicopathologic entity in which vitamin dresistant osteomalacia or rickets occurs in association with a bone or soft tissue tumor. Tumor induced osteomalacia tio is a rare and fascinating paraneoplastic syndrome in which patients present with bone pain, fractures, and muscle weakness. Recent studies on tumorinduced osteomalacia revealed that phosphatonin was potentially identical to fibroblast growth factor fgfwhich is a new member of the fgf family 235.
Successful treatment of tumorinduced osteomalacia due to. Weight loss is unusual, but sometimes observed, and could be explained by general debilitated state of the patient with consequent poor nutrient intake. Tumourinduced osteomalacia tio is a rare paraneoplastic syndrome characterised by severe hypophosphataemia and osteomalacia, with renal phosphate wasting that occurs in association with tumour. Tumorinduced osteomalacia caused by a phosphaturic.
Mbbs,dch,cabp,frcpuk consultant, pediatric endocrinologist. Since the syndrome was first described by mccance in 1947,1 approximately 102 patients have been reported with this disease. Mar 25, 2017 the majority of tumor induced osteomalacia cases have been reported in the northern hemisphere and asia. Tumorinduced osteomalacia caused by a parotid tumor. T umor induced osteomalacia is a rare disorder in which rickets or osteomalacia is associated with a tumor. Tumor induced osteomalacia tio is an extremely rare paraneoplastic syndrome that is characterized by hypophosphatemia and hyperphosphaturia. Tumorinduced osteomalacia tio is a rare paraneoplastic form of renal phos phate wasting that results in severe hypophosphatemia, a defect in vitamin d. Tumor induced osteomalacia is a paraneoplastic syndrome caused by a mesenchymal tumor elaborating a hormone that induces renalphosphate wasting. Clinical manifestations include hypophosphatemia, muscle weakness, bone pain, osteomalacia, and fractures. Wbmri is now developing remarkably and widely used in oncologic field.
Tumorinduced osteomalacia tio, also known oncogenic osteomalacia, is a rare paraneoplastic syndrome of abnormal phosphate and. Thus, prostatic carcinoma, although an endodermal malignancy, may cause the tumorinduced osteomalacia syndrome. A benign mesenchymal or mixed connective tissue tumor usually phosphaturic mesenchymal tumor and hemangiopericytoma are the most common associated tumors. Osteomalacia can also occur in patients with primary hypophosphatemia due to one of the hereditary hypophosphatemic rickets syndromes eg, xlinked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets or with tumor induced osteomalacia, an acquired paraneoplastic syndrome of renal phosphate wasting.
Tumor induced osteomalacia tio, also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption. Bgj398 for the treatment of tumorinduced osteomalacia. Tio is usually caused by small, benign, difficulttolocalize, mesenchymal tumors. It is caused by tumoral overproduction of fibroblast growth factor 23 fgf23 that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1. Tumor induced osteomalacia is usually referred to as a paraneoplastic phenomenon, however, the tumors are usually benign and the symptomatology is due to osteomalacia or rickets. Tumorinduced osteomalacia definition of tumorinduced. We report the case of a 57yearold japanese man with tumorinduced osteomalacia associated with a middle cranial fossa bone tumor. Grand rounds clinicians corner at the johns hopkins bayview medical center tumorinduced osteomalacia suzanne m. Catheterization to locate mesenchymal tumors in patients with tumorinduced osteomalacia or oncogenic osteomalacia. Rare and fascinating paraneoplastic syndrome paraneoplastic syndromes refer to the disorders that accompany benign or malignant tumors but are not directly related to mass effects or in. Tio is usually induced by small, slowly growing tumors of mesenchymal origin phosphaturic mesenchymal tumor mixed connective tissue variant pmtmct. Tumorinduced osteomalacia tio is a rare disorder in which fibroblast growth factor fgf23producing neoplasms cause renal phosphate wasting and skeletal disease.
She presented with nontraumatic low back pain and spontaneous bilateral femur fractures. This debilitating disorder is illustrated by the clinical presentation of a 55yearold woman with progressive. Tumor induced osteomalacia tio is a rare, paraneoplastic disease that can be difficult to distinguish from genetic forms of hypophosphatemia and severe osteomalacia. In cases of tio, identifying the responsible tumor is often difficult because they. Article tumorinduced osteomalacia tio also known as. The culprit tumors of tio could produce fibroblast growth factor 23 which plays a role in regulating renal pi handling and 25hydroxyvitamin d 1. 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. Available formats pdf please select a format to send.
Synonyms for tumorinduced osteomalacia in free thesaurus. Osteomalacia can also occur in patients with primary hypophosphatemia due to one of the hereditary hypophosphatemic rickets syndromes eg, xlinked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets or with tumorinduced osteomalacia, an acquired paraneoplastic syndrome of renal phosphate wasting. Tumorinduced osteomalacia tio is an extremely rare paraneoplastic syndrome that is characterized by hypophosphatemia and hyperphosphaturia. Phosphate is important for keeping bones strong and healthy. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
Tumorinduced osteomalacia tio is a rare paraneoplasic syndrome with overproduction of fibroblast growth factor 23 as a phosphaturic agent, leading to. Recent studies have shown that chromosomal translocations causing a fibronectinfgfr1 fn1fgfr1 fusion gene have been identified in 4060% of these tumors. Dec 20, 2004 catheterization to locate mesenchymal tumors in patients with tumor induced osteomalacia or oncogenic osteomalacia the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Phosphate uptake was initiated 22865 addition of uptake solution supplemented with 0. Phosphaturic mesenchymal tumor of the brain without tumor. The cause is high blood levels of the recently identified phosphate and vitamin dregulating hormone, fibroblast growth.
In this first series of south american patients, we show that the clinical presentation and sensitivity of plasmatic fibroblast growth factor 23 and somatostatin analogbased imaging are similar to those described in other populations. Pdf tumorinduced osteomalacia tio is a rare and fascinating paraneoplastic syndrome in which patients present with bone pain, fractures, and muscle weakness. Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. Tumorinduced osteomalacia tio is a rare disease, which causes hyperphosphaturia and hypophosphatemia with inappropriately normal or low 1,25dihydroxyvitamin d. This occurs when a tumor secretes a substance called fibroblast growth factor 23 fgf23. Figure 1 clinical effects of advanced tumorinduced osteomalacia tio. Tumorinduced osteomalacia is a paraneoplastic syndrome caused by a mesenchymal tumor elaborating a hormone that induces renalphosphate wasting.
Treatment and outcomes of tumorinduced osteomalacia. Phosphaturic mesenchymal tumor of the brain without tumorinduced osteomalacia in an 8. The cause is high blood levels of the recently identified phosphate and vitamin dregulating hormone, fibroblast growth factor 23 fgf23. The hallmark of tio, and its genetic phenocopies, is renal phosphate wasting and abnormal vitamin d metabolism. Further, affected subjects had a normal serum concentration of 2 5hydroxy vitamin d, 28. Tumorinduced osteomalacia is a rare disorder, with approximately 120 cases reported in the literature undoubtedly, there are many more cases that have not been reported,2 yet progress in understanding its pathogenesis is. Tumorinduced osteomalacia tio, also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption. Nonspecific symptoms including fatigue, bone pain, and musculoskeletal weakness make the diagnosis elusive and. Oncogenic osteomalacia associated with mesenchymal tumor. Tumour induced osteomalacia tio, also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 fgf23. We are reporting a case of pmt involving the nose and paranasal sinus presenting with epistaxis and bone pain. We detected a tumor in his left parotid gland, and the fgf23 level in the left external jugular vein indicated that the tumor overproduced fgf23. Tumor induced osteomalacia, also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome in which vitamin d resistant osteomalacia occurs due to the presence of a tumor. Tumorinduced osteomalacia is curable if the tumors can be totally excised.
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