Cargando…
Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series
PURPOSE: Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating FGF23 produced by small mesenchymal tumors. Data on the real prevalence of the disease are lacking, with the knowledge of...
Autores principales: | , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9156492/ https://www.ncbi.nlm.nih.gov/pubmed/35381903 http://dx.doi.org/10.1007/s12020-022-03039-2 |
_version_ | 1784718463568183296 |
---|---|
author | Cianferotti, Luisella Delli Poggi, Chiara Bertoldo, Francesco Caffarelli, Carla Crotti, Chiara Gatti, Davide Giannini, Sandro Gonnelli, Stefano Mazzantini, Maurizio Ombretta, Viapiana Sella, Stefania Setti, Angela Varenna, Massimo Zucchi, Francesca Brandi, Maria Luisa |
author_facet | Cianferotti, Luisella Delli Poggi, Chiara Bertoldo, Francesco Caffarelli, Carla Crotti, Chiara Gatti, Davide Giannini, Sandro Gonnelli, Stefano Mazzantini, Maurizio Ombretta, Viapiana Sella, Stefania Setti, Angela Varenna, Massimo Zucchi, Francesca Brandi, Maria Luisa |
author_sort | Cianferotti, Luisella |
collection | PubMed |
description | PURPOSE: Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating FGF23 produced by small mesenchymal tumors. Data on the real prevalence of the disease are lacking, with the knowledge of the disease mainly relying on case reports and small case series. No estimate is available on the prevalence of uncured TIO. METHODS: National multi-center, cross-sectional and retrospective study on persistent or recurrent cases of TIO followed in referral centers for bone diseases; systematic review of the published persistent and recurrent cases of TIO. Data from patients consecutively evaluated in referral Italian centers for bone diseases were collected; a PubMed search on persistent, recurrent and unoperable cases of TIO was carried out. RESULTS: Sixteen patients (mean age at diagnosis 52.5 ± 10.6 years) with persistent (n = 6, 37,5%), recurrent (n = 7, 43.7%) or not operable (n = 3, 18.8%) TIO were described. Delay in diagnosis (2.5 ± 1.3 years) was demonstrated. All patients experienced fragility fractures or pseudofractures and disabling bone and muscle pain. BMD was significantly reduced (mean T-score −2.7 ± 1.7 and −2.7 ± 0.9 at lumbar spine and femoral neck, respectively). Fourteen patients were maintained under therapy with phosphate salts and calcitriol, while in 2 patients therapy with burosumab, an anti-FGF23 antibody, was commenced. CONCLUSION: A significant number of patients with TIO remain either undiagnosed for tumor localization or tumor recur or persist after surgery. These patients with active disease represent possible candidates for burosumab treatment. |
format | Online Article Text |
id | pubmed-9156492 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-91564922022-06-02 Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series Cianferotti, Luisella Delli Poggi, Chiara Bertoldo, Francesco Caffarelli, Carla Crotti, Chiara Gatti, Davide Giannini, Sandro Gonnelli, Stefano Mazzantini, Maurizio Ombretta, Viapiana Sella, Stefania Setti, Angela Varenna, Massimo Zucchi, Francesca Brandi, Maria Luisa Endocrine Original Article PURPOSE: Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating FGF23 produced by small mesenchymal tumors. Data on the real prevalence of the disease are lacking, with the knowledge of the disease mainly relying on case reports and small case series. No estimate is available on the prevalence of uncured TIO. METHODS: National multi-center, cross-sectional and retrospective study on persistent or recurrent cases of TIO followed in referral centers for bone diseases; systematic review of the published persistent and recurrent cases of TIO. Data from patients consecutively evaluated in referral Italian centers for bone diseases were collected; a PubMed search on persistent, recurrent and unoperable cases of TIO was carried out. RESULTS: Sixteen patients (mean age at diagnosis 52.5 ± 10.6 years) with persistent (n = 6, 37,5%), recurrent (n = 7, 43.7%) or not operable (n = 3, 18.8%) TIO were described. Delay in diagnosis (2.5 ± 1.3 years) was demonstrated. All patients experienced fragility fractures or pseudofractures and disabling bone and muscle pain. BMD was significantly reduced (mean T-score −2.7 ± 1.7 and −2.7 ± 0.9 at lumbar spine and femoral neck, respectively). Fourteen patients were maintained under therapy with phosphate salts and calcitriol, while in 2 patients therapy with burosumab, an anti-FGF23 antibody, was commenced. CONCLUSION: A significant number of patients with TIO remain either undiagnosed for tumor localization or tumor recur or persist after surgery. These patients with active disease represent possible candidates for burosumab treatment. Springer US 2022-04-05 2022 /pmc/articles/PMC9156492/ /pubmed/35381903 http://dx.doi.org/10.1007/s12020-022-03039-2 Text en © The Author(s) 2022, corrected publication 2022 https://creativecommons.org/licenses/by/4.0/ Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Original Article Cianferotti, Luisella Delli Poggi, Chiara Bertoldo, Francesco Caffarelli, Carla Crotti, Chiara Gatti, Davide Giannini, Sandro Gonnelli, Stefano Mazzantini, Maurizio Ombretta, Viapiana Sella, Stefania Setti, Angela Varenna, Massimo Zucchi, Francesca Brandi, Maria Luisa Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title | Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title_full | Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title_fullStr | Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title_full_unstemmed | Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title_short | Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series |
title_sort | persistence and recurrence in tumor-induced osteomalacia: a systematic review of the literature and results from a national survey/case series |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9156492/ https://www.ncbi.nlm.nih.gov/pubmed/35381903 http://dx.doi.org/10.1007/s12020-022-03039-2 |
work_keys_str_mv | AT cianferottiluisella persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT dellipoggichiara persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT bertoldofrancesco persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT caffarellicarla persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT crottichiara persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT gattidavide persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT gianninisandro persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT gonnellistefano persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT mazzantinimaurizio persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT ombrettaviapiana persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT sellastefania persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT settiangela persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT varennamassimo persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT zucchifrancesca persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries AT brandimarialuisa persistenceandrecurrenceintumorinducedosteomalaciaasystematicreviewoftheliteratureandresultsfromanationalsurveycaseseries |