title: Diagnosis and classification of mastocytosis in non-specialized versus reference centres: a Spanish Network on Mastocytosis (REMA) study on 122 patients.
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.
authors.affiliation: Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain.|Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Sánchez-Muñoz
authors.affiliation: Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain.|Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.
authors.forename: Jose M
authors.initials: JM
authors.lastname: Morgado
authors.affiliation: Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain.|Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.
authors.forename: Ivan
authors.initials: I
authors.lastname: Álvarez-Twose
authors.affiliation: Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain.|Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.
authors.forename: Almudena
authors.initials: A
authors.lastname: Matito
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Andrés C
authors.initials: AC
authors.lastname: Garcia-Montero
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Teodosio
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Jara-Acevedo
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Andrea
authors.initials: A
authors.lastname: Mayado
authors.affiliation: Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
authors.forename: Manuela
authors.initials: M
authors.lastname: Mollejo
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Carolina
authors.initials: C
authors.lastname: Caldas
authors.affiliation: Department of Allergology, Hospital de Fuenlabrada, Madrid, Spain.
authors.forename: David
authors.initials: D
authors.lastname: González de Olano
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Escribano
authors.affiliation: Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.|Servicio General de Citometría, Centro de Investigación del Cáncer (IBMCC-CSIC/USAL and IBSAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Orfao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D008407:Mast Cells / Q000276:immunology / Q000473:pathology; D008415:Mastocytosis / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D008875:Middle Aged; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D035583:Rare Diseases / Q000175:diagnosis; D012017:Referral and Consultation; D012189:Retrospective Studies; D013030:Spain; D013038:Specialization; D053802:Tryptases / Q000097:blood; D055815:Young Adult
chemical_list: D019009:Proto-Oncogene Proteins c-kit; D053802:Tryptases
keywords: KIT mutation; flow cytometry; rare disease; reference centre; systemic mastocytosis