Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology
| Autor: | José María Bastida, Félix López-Cadenas, María J Jiménez, Inés Rodríguez, José Cervera, Blanca Xicoy-Cirici, María Díez-Campelo, Inmaculada Llopis-Calatayud, Maria Consuelo Del Cañizo-Roldán, Jesus M Hernández-Sánchez, Ana Vicente-Sánchez, Juan Carlos Caballero-Berrocal, Esperanza Such, Mario Arnao-Herráiz, Santiago Bonanad-Boix, Oriana López-Godino |
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| Přispěvatelé: | Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III |
| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Anemia Megaloblastic Anemia Clinical Biochemistry Macrocytosis 030204 cardiovascular system & hematology Diagnosis Differential 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases medicine Humans Anemia Macrocytic Prospective Studies Vitamin B12 Prospective cohort study Megaloblastic anemia mutation analysis Aged Aged 80 and over Cytopenia business.industry Myelodysplastic syndromes Biochemistry (medical) Hematology General Medicine Phosphoproteins medicine.disease anemia myelodysplastic syndrome Mutation analysis hemogram macrocytosis Myelodysplastic Syndromes Mutation Hemogram Etiology Female RNA Splicing Factors business Myelodysplastic syndrome 030215 immunology |
| Zdroj: | International Journal of Laboratory Hematology r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol instname Digital.CSIC. Repositorio Institucional del CSIC INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) r-FISABIO. Repositorio Institucional de Producción Científica |
| ISSN: | 1751-5521 0141-9854 |
| Popis: | [Introduction]: Diagnosis of myelodysplastic syndromes (MDSs) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology. [Methods]: We conducted a multicenter, prospective study over 4 months in three hematology laboratories. In step 1, we used an automated informatics system to screen 137 453 hemograms for cases of anemia and/or macrocytosis (n = 2702). In step 2, we excluded all patients whose anemia appeared to be due to a known cause. This left 290 patients had anemia of uncertain etiology. In step 3, we conducted further investigations, including a peripheral blood smear, and analysis of iron, vitamin B12, folate, and thyroid hormone levels. [Results]: A differential diagnosis was obtained in 139 patients (48%). The primary causes of anemia were iron deficiency (n = 59) and megaloblastic anemia (n = 39). In total, 25 hematologic disorders were diagnosed, including 14 patients with MDS (56%). The median age of MDS patients was 80 years, 12 had anemia as an isolated cytopenia, and most (n = 10) had lower‐risk disease (IPSS‐R ≤ 3.5). SF3B1 mutations were most frequent (n = 6) and correlated with the presence of ring sideroblasts (100%) and associated with better prognosis (P = 0.001). [Conclusions]: Our prospective, four‐step approach is an efficient and logical strategy to facilitate the diagnosis of MDS on the basis of unexplained anemia and/or macrocytosis, and may allow the early diagnosis of the most serious causes of anemia. Molecular analysis of genes related to MDS could be a promising diagnostic and prognostic approach. This work was also partially financed by the Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III (ISCIII) (PI 17/01741 from MDC and PI 17/01966 from JMB). |
| Databáze: | OpenAIRE |
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