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Diagnosis of a Patient with Oncogenic Osteomalacia Using a Phosphate Uptake Bioassay of Serum and Magnetic Resonance Imaging

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Diagnosis of a Patient with Oncogenic Osteomalacia Using a Phosphate Uptake Bioassay of Serum and Magnetic Resonance Imaging European Journal of Endocrinology (2001) 145 469±476 ISSN 0804-4643 CASE REPORT Diagnosis of a patient with oncogenic osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging Anne E Nelson1,2,3, Rebecca S Mason1,2, Bruce G Robinson1,3, Jeremy J Hogan1,2, Erin A Martin1,2, HaÊkan AhlstroÈm5, Gunnar AÊ stroÈm5, Tobias Larsson4, Kenneth Jonsson4, Lars Wibell4 and Osten Ljunggren4 1Cancer Genetics Department, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney 2065, Australia, 2Department of Physiology and Institute for Biomedical Research, 3Department of Medicine, University of Sydney, Sydney 2006, Australia, 4Department of Internal Medicine and 5Department of Radiology, University Hospital, Uppsala, Sweden (Correspondence should be addressed to Anne E Nelson, Cancer Genetics Department, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW 2065, Australia; Email: [email protected]) Abstract A previously healthy man with no family history of fractures presented with muscle pain, back pain and height loss. Investigations revealed hypophosphataemia, phosphaturia, undetectable serum 1,25- dihydroxyvitamin D and severe osteomalacia on bone biopsy, suggestive of a diagnosis of oncogenic osteomalacia. Thorough physical examination did not locate a tumour. Support for the diagnosis was obtained by detection of phosphate uptake inhibitory activity in a blinded sample of the patient's serum using a renal cell bioassay. On the basis of detection of this bioactivity, a total body magnetic resonance (MR) examination was performed. A small tumour was located in the right leg. Removal of the tumour resulted in the rapid reversal of symptoms and the abnormal biochemistry typical of oncogenic osteomalacia. Inhibitory activity was also demonstrated using the bioassay in serum from two other patients with con®rmed or presumptive oncogenic osteomalacia, but not in serum from two patients with hypophosphataemia of other origin. This is the ®rst case to be reported in which the diagnosis of oncogenic osteomalacia was assisted by demonstration of inhibitory activity of the patient's serum in a renal cell phosphate bioassay that provided an impetus for total body MR imaging. European Journal of Endocrinology 145 469±476 Introduction located and removed. If it can be located and completely removed, there is usually rapid reversal of Oncogenic osteomalacia is a condition that is often the abnormal biochemistry and alleviation of symp- dif®cult to diagnose and to manage (reviewed in (1±3)). toms. The search for the tumour usually starts with a Patients frequently present with vague symptoms of very thorough physical examination, then radiographic bone and muscle pain and muscle weakness. The survey and bone scans. Computed tomography (CT) typical biochemical ®ndings are hypophosphataemia, and magnetic resonance (MR) examinations of any renal phosphate wasting, low serum concentration of clinically suspicious areas have also been used (5±8). 1,25-dihydroxyvitamin D (1,25(OH)2D) and frequently In the case reported here, a patient presented with increased serum alkaline phosphatase. Impaired miner- symptoms and signs suggestive of oncogenic osteo- alisation of bone presents as rickets or osteomalacia, as malacia; however, no tumour could be located by indicated by bone biopsy, and patients may have physical examination. A renal cell phosphate uptake recurrent fractures. The tumour responsible for the bioassay, with which we have previously demonstrated symptoms and signs of oncogenic osteomalacia may be inhibition of renal phosphate uptake by conditioned located in almost any part of the body, with a large media from cultured oncogenic osteomalacia tumour proportion occurring in the upper and lower extremi- cells (9), was used to test a blinded sample of the ties and around the head. The tumours are often small patient's serum against age- and sex-matched controls. and slowly growing. They are of a wide variety of Detection of phosphate uptake inhibitory activity in the histological types and are mostly benign and of patient's serum provided the impetus for carrying out a mesenchymal origin (reviewed in (4)). whole-body MR examination. Location of the tumour is often dif®cult, and the The renal phosphate uptake assay was also used to diagnosis cannot be con®rmed until the tumour is test sera from other patients with hypophosphataemia, q 2001 Society of the European Journal of Endocrinology Online version via http://www.eje.org Downloaded from Bioscientifica.com at 09/24/2021 09:43:01PM via free access 470 A E Nelson and others EUROPEAN JOURNAL OF ENDOCRINOLOGY (2001) 145 with or without other symptoms and signs of In 1997, a sample of the patient's serum and sera oncogenic osteomalacia, to determine its usefulness in from two age- and sex-matched normal controls were assisting in the diagnosis of this condition. tested in a blinded manner, in the phosphate uptake assay. Phosphate uptake inhibitory activity was detected in the serum from patient 1 compared with Case reports the control sera in the renal cell bioassay. Detection of this activity was further evidence that the patient's Patient 1 symptoms were due to oncogenic osteomalacia. On the basis of this evidence, a further search for the tumour Patient 1 presented in 1993 at age 26 years with was carried out using a whole-body MR examination. muscle pain. He was a previously healthy man, a part- In that examination a small, subcutaneous, highly time body-builder, with no family history of fractures. vascularised tumour was detected in the right leg X-ray examination in 1994 detected no vertebral 20 cm proximal to the knee. fractures. Over the next 2 years, the patient also The tumour was removed in January 1998 and was suffered muscle ache, generalised stiffness and severe classi®ed histologically as angiodysplasia. Serum phos- back pain and he lost 8 cm in height between 1995 phate returned to within the normal range 10 h after and 1996. Multiple vertebral fractures were shown by the operation, and the serum concentration of X-ray examination in February 1996. 1,25(OH)2D also normalised. The patient had full In June 1996, he was seen after referral to the clinic mobility within 3 days after operation and had no at Uppsala. Biochemical investigations indicated low pain or stiffness. His myopathy, which had been only serum phosphate concentration of 0.43 mmol/l partially improved by treatment, vanished within 2 (normal range 0.76±1.44 mmol/l), high urinary days. He returned to full-time work, and at follow-up phosphate clearance of 32.7 ml/min (normal range after 1 year he remained well. The changes in 4±12 ml/min), low tubular phosphate reabsorption biochemistry are summarised in Table 1. of 69% (normal range 87±94%), undetectable 1,25(OH)2D and increased alkaline phosphatase of 26 ukat/l (normal range 0.8±4.8 ukat/l). The serum Patient 2 concentrations of 25-hydroxyvitamin D (27 nmol/l; normal range 25±105 nmol/l), parathyroid hormone Patient 2 has been reported previously (10). In this (PTH) (33 ng/l; normal range 12±55 ng/l) and cal- patient, the diagnosis of oncogenic osteomalacia was cium (2.34 mmol/l; normal range 2.20±2.60 mmol/l), con®rmed by clinical improvement after removal of a and other biochemical measurements were all within prostate adenocarcinoma. Serum was collected from normal ranges. There was no evidence of amino- patient 2 before and after surgical removal of the aciduria or skeletal dysmorphism. The patient had a tumour. severe myopathy. Bone biopsy indicated severe osteo- malacia. The patient's history and physical ®ndings Patient 3 were suggestive of a diagnosis of oncogenic osteo- malacia, though no tumour could be located on This female patient ®rst presented in 1985 at age 36 physical examination. The patient was treated from years with generalised bone and muscle pain, hypo- June 1996 with phosphate and 1,25(OH)2D, which phosphataemia (0.4 mmol/l, normal range 0.8± relieved his symptoms. 1.5 mmol/l), low serum concentration of 1,25(OH)2D Table 1 Changes in biochemical measurements from patient 1 before treatment and after surgical removal of tumour. Biochemical measurement Before treatment Immediately before surgery, After surgery Follow-up (normal range) (June 1996) on treatment (January 1998) (without treatment) (May 1998) Serum phosphate 0.43 mmol/l 0.55 mmol/l 0.91 mmol/l 1.36 mmol/l (0.76±1.44 mmol/l) Phosphate clearance 32.7 ml/min 17.3 ml/min 16.7 ml/min (4±12 ml/min) Tubular phosphate reabsorption 69% 79% 84% (87±94%) 1,25(OH)2D ND 51 pmol/l (treated with 107 pmol/l (40±130 pmol/l) 1,25(OH)2D2mg/day) 25(OH)D 27 nmol/l 23 nmol/l 31 nmol/l (NR 25±105 nmol/l) (NR 19±124 nmol/l) (NR 19±124 nmol/l) Biochemical measurements for patient 1 are summarized before treatment in June 1996, immediately before surgery to remove the tumour in January 1998, after surgery, and at follow-up in May 1998. The normal range for each measurement is shown in the ®rst column, except for 25(OH)D, for which the laboratory normal range changed in 1997 and the relevant values (NR) are shown for each time of measurement. ND, not detectable. www.eje.org Downloaded from Bioscientifica.com at 09/24/2021 09:43:01PM via free access EUROPEAN JOURNAL OF ENDOCRINOLOGY (2001) 145 Oncogenic osteomalacia case report 471 and osteomalacia on bone biopsy. Careful physical 1 mol/l acetic acid. The eluants were then diluted examinations and bone scans have failed to locate a with serum-free DMEM medium with bovine serum causative tumour and she has been treated since 1985 albumin added to a ®nal concentration of 0.1%, then with phosphate and 1,25(OH)2D, which alleviate her tested in the phosphate uptake bioassay.
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