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http://hdl.handle.net/10261/168492
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dc.contributor.author | Sánchez-Muñoz, Laura | - |
dc.contributor.author | Morgado, J. M. | - |
dc.contributor.author | Álvarez-Twose, Iván | - |
dc.contributor.author | Matito, Almudena | - |
dc.contributor.author | García-Montero, Andrés | - |
dc.contributor.author | Teodosio, Cristina | - |
dc.contributor.author | Jara-Acevedo, Maria | - |
dc.contributor.author | Mayado, Andrea | - |
dc.contributor.author | Mollejo, Manuela | - |
dc.contributor.author | Caldas, Carolina | - |
dc.contributor.author | Gonzalez-de-Olano, David | - |
dc.contributor.author | Escribano, Luis | - |
dc.contributor.author | Orfao, Alberto | - |
dc.date.accessioned | 2018-08-09T10:19:02Z | - |
dc.date.available | 2018-08-09T10:19:02Z | - |
dc.date.issued | 2016 | - |
dc.identifier | doi: 10.1111/bjh.13789 | - |
dc.identifier | e-issn: 1365-2141 | - |
dc.identifier | issn: 0007-1048 | - |
dc.identifier.citation | British Journal of Haematology 172(1): 56-63 (2016) | - |
dc.identifier.uri | http://hdl.handle.net/10261/168492 | - |
dc.description.abstract | The diagnosis of 'rare diseases', such as mastocytosis, remains a challenge. Despite this, the precise benefits of referral of mastocytosis patients to highly specialized reference centres are poorly defined and whether patients should be managed at non-specialized versus reference centres remains a matter of debate. To evaluate the quality and efficiency of diagnostic procedures performed at the reference centres for mastocytosis in Spain (REMA) versus other non-reference centres, we retrospectively analysed a series of 122 patients, for the overall degree of agreement obtained for the World Health Organization (WHO) diagnostic and classification criteria betwen the referring and REMA centres. Our results showed that not all WHO diagnostic criteria were frequently investigated at the referring centres. Among the five WHO diagnostic criteria, the highest degree of agreement was obtained for serum tryptase levels [median 90% (95% confidence interval 84-96%)]; in turn, the overall agreement was significantly lower for the major histopathological criterion [80% (72-89%)], and the other three minor criteria: cytomorphology [68% (56-80%)] immunophenotyping of BM mast cells [75% (62-87%)] and detection of the KIT mutation [34% (8-60%)]. Referral of patients with diagnostic suspicion of mastocytosis to a multidisciplinary reference centre improves diagnostic efficiency and quality. | - |
dc.description.sponsorship | This work was supported by grants from the Fondo de Investigaciones Sanitarias (FIS) and RTICC of the Instituto de Salud Carlos III, Ministry of Economy and Competitivity, Madrid, Spain (grants PI11/02399 and RD12/0036/0048, FEDER); Ayudas a Proyectos de Investigacion en Salud de la Fundacion Mutua Madrileña 2014; Ayuda de la Asociacion Española de Enfermos de Mastocitosis (AEDM 2014); and Fundacion Ramon Areces, Madrid, Spain (grant CIVP16A1806). AM was supported by RTICC. | - |
dc.publisher | John Wiley & Sons | - |
dc.rights | closedAccess | - |
dc.subject | KIT mutation | - |
dc.subject | Systemic mastocytosis | - |
dc.subject | Reference centre | - |
dc.subject | Rare disease | - |
dc.subject | Flow cytometry | - |
dc.title | Diagnosis and classification of mastocytosis in non-specialized versus reference centres: a Spanish Network on Mastocytosis (REMA) study on 122 patients | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1111/bjh.13789 | - |
dc.date.updated | 2018-08-09T10:19:02Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.contributor.funder | European Commission | - |
dc.contributor.funder | Instituto de Salud Carlos III | - |
dc.contributor.funder | Fundación Ramón Areces | - |
dc.contributor.funder | Fundación Española de Mastocitosis | - |
dc.contributor.funder | Fundación Mutua Madrileña | - |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | - |
dc.relation.csic | Sí | - |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100008061 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100008054 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
dc.identifier.pmid | 26456532 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
item.cerifentitytype | Publications | - |
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