RESUMEN
Tumor-induced osteomalacia (TIO) is a rare cause of hypophosphatemia involving overproduction of fibroblast growth factor 23. TIO has been described largely in adults with small mesenchymal tumors. We report a case of TIO in a child who presented with knee pain and radiographic findings concerning for rickets, and was found to have maxillomandibular giant cell lesions. The patient was treated with oral phosphorus and calcitriol, surgical debulking, and intralesional corticosteroids, which resulted in tumor regression and normalization of serum fibroblast growth factor 23 and phosphorus. This case illustrates the occurrence of this rare paraneoplastic syndrome in children and adds to our knowledge about clinical manifestations and pathologic findings associated with pediatric TIO.
Asunto(s)
Tumores de Células Gigantes/complicaciones , Neoplasias Mandibulares/complicaciones , Neoplasias Maxilares/complicaciones , Osteomalacia/etiología , Síndromes Paraneoplásicos/etiología , Alopecia/etiología , Calcitriol/uso terapéutico , Preescolar , Terapia Combinada , Procedimientos Quirúrgicos de Citorreducción , Diagnóstico Diferencial , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/biosíntesis , Genu Valgum/etiología , Tumores de Células Gigantes/tratamiento farmacológico , Tumores de Células Gigantes/metabolismo , Tumores de Células Gigantes/cirugía , Humanos , Hipofosfatemia/etiología , Inyecciones Intralesiones , Masculino , Neoplasias Mandibulares/tratamiento farmacológico , Neoplasias Mandibulares/metabolismo , Neoplasias Mandibulares/cirugía , Neoplasias Maxilares/tratamiento farmacológico , Neoplasias Maxilares/metabolismo , Neoplasias Maxilares/cirugía , Proteínas de Neoplasias/biosíntesis , Úlceras Bucales/etiología , Osteomalacia/diagnóstico , Osteomalacia/tratamiento farmacológico , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/tratamiento farmacológico , Fósforo/uso terapéutico , Raquitismo/diagnóstico , Triamcinolona/administración & dosificación , Triamcinolona/uso terapéuticoRESUMEN
OBJECTIVE: To study the characteristic changes of 31P-MR spectroscopy of bone and soft tissue tumors. METHODS: 41 patients were examined by phosphorus surface coil of 3 tesla MR machine, including 18 benign tumor foci and 28 malignant foci, and adjacent normal muscles. The areas under the peaks of various metabolites in the spectra were measured, including phosphomonoester (PME), inorganic phosphours (Pi), phosphodiester (PDE), phosphocreatine (Pcr), adenosine triphosphate (ATP) gamma, alpha, beta. The ratios of the metabolites to beta-ATP, NTP and Pcr were calculated. Intracellular pH was calculated according to the chemical shift change of Pi relative to Pcr. RESULTS: The ratios of Pcr/PME and PME/NTP in benign and malignant tumor groups were significantly different from those of the normal group (P<0.05). Between benign and malignant tumor groups, the ratios of PME/beta-ATP and PME/NTP were significantly different (P<0.05). CONCLUSION: Pcr/PME and PME/NTP are potential diagnostic indexes of bone and soft tissue tumors. PME/beta-ATP and PME/NTP are potential indexes of differential diagnosis of bone and soft tissue tumors.
Asunto(s)
Neoplasias Óseas/diagnóstico , Tumores de Células Gigantes/diagnóstico , Espectroscopía de Resonancia Magnética/métodos , Osteosarcoma/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Adenosina Trifosfato/metabolismo , Adolescente , Adulto , Anciano , Neoplasias Óseas/metabolismo , Niño , Diagnóstico Diferencial , Femenino , Fibroma/diagnóstico , Fibroma/metabolismo , Tumores de Células Gigantes/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Organofosfatos/metabolismo , Osteosarcoma/metabolismo , Fosfocreatina/metabolismo , Fósforo/metabolismo , Isótopos de Fósforo , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/metabolismo , Neoplasias de los Tejidos Blandos/metabolismo , Adulto JovenRESUMEN
Neutron-activation method was employed to determine the concentration of magnium, sodium, chlorine, phosphorus and calcium in different bone tumors. In relation to normal skeletal tissue in tumor tissues higher concentrations of chlorine and sodium but lower concentrations of calcium and phosphorus were found. The greatest changes in the macromolecular content were noted in sarcoma tissues. Bone tumors differ reliably one from the other by concentrations or ratios of macroelements concentrations, this fact may be used for the differential diagnosis.
Asunto(s)
Neoplasias Óseas/metabolismo , Adolescente , Adulto , Huesos/metabolismo , Calcio/metabolismo , Niño , Cloro/metabolismo , Condroma/metabolismo , Condrosarcoma/metabolismo , Tumores de Células Gigantes/metabolismo , Humanos , Linfoma de Células B Grandes Difuso/metabolismo , Magnesio/metabolismo , Persona de Mediana Edad , Osteoma Osteoide/metabolismo , Osteosarcoma/metabolismo , Fósforo/metabolismo , Sodio/metabolismoRESUMEN
Oncogenic osteomalacia is a syndrome in which unexplained osteomalacia remits after resection of a coexisting mesenchymal tumor. We have investigated the mechanism by which a giant cell tumor of bone caused biopsy-proved osteomalacia in a 42-yr-old woman. The biochemical abnormalities were: hypophosphatemia; decreased renal tubular maximum for the reabsorption of phosphate per liter of glomerular filtrate; negative calcium and phosphorus balance; hyperaminoaciduria; and subnormal calcemic response to exogenously administered parathyroid hormone. Malabsorption, hypophosphatasia, fluorosis, and acidosis were excluded as causes of the osteomalacia. Serum 25-hydroxycholecalciferol was normal (27+/-1 ng/ml). However, the serum concentration of 1alpha,25-dihydroxycholecalciferol was low (1.6+/-0.1 ng/100 ml). Oral administration of physiological amounts of 1alpha,25-dihydroxycholecalciferol resulted in resolution of the biochemical abnormalities of the syndrome and healing of the bone pathology. We suggest that tumor-induced inhibition of 1alpha,25-dihydroxycholecalciferol synthesis caused the osteomalacia. The causal role of the tumor was proved by demonstrating that resection was accompanied by roentgenographic evidence of bone healing and maintenance of normal serum phosphorus; renal tubular maximum for the reabsorption of phosphate; calcium and phosphorus balance; aminoaciduria; and calcemic response to exogenous parathyroid hormone.