Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology


Por: Bastida, JM, Lopez-Godino, O, Vicente-Sanchez, A, Bonanad-Boix, S, Xicoy-Cirici, B, Hernandez-Sanchez, JM, Such, E, Cervera, J, Caballero-Berrocal, JC, Lopez-Cadenas, F, Arnao-Herraiz, M, Rodriguez, I, Llopis-Calatayud, I, Jimenez, MJ, del Canizo-Roldan, MC and Diez-Campelo, M

Publicada: 1 feb 2019 Ahead of Print: 5 oct 2018
Resumen:
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.

Filiaciones:
Bastida, JM:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain

Lopez-Godino, O:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain

Vicente-Sanchez, A:
 Hosp Ribera, Hematol, Valencia, Spain

Bonanad-Boix, S:
 Hosp Ribera, Hematol, Valencia, Spain

:
 Hosp Badalona Germans Trias & Pujol, Josep Carreras Leukemia Res Inst, Inst Catala Oncol, Badalona, Spain

Hernandez-Sanchez, JM:
 Univ Salamanca, CSIC, Ctr Invest Canc, Inst Invest Biomed Salamanca,IBMCC, Salamanca, Spain

Such, E:
 Hosp Univ & Politecn La Fe, Lab Citogenet & Biol Mol, Hematol, Valencia, Spain

Cervera, J:
 Hosp Univ & Politecn La Fe, Lab Citogenet & Biol Mol, Hematol, Valencia, Spain

Caballero-Berrocal, JC:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain

Lopez-Cadenas, F:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain

Arnao-Herraiz, M:
 Hosp Ribera, Hematol, Valencia, Spain

Rodriguez, I:
 Hosp Badalona Germans Trias & Pujol, Josep Carreras Leukemia Res Inst, Inst Catala Oncol, Badalona, Spain

Llopis-Calatayud, I:
 Hosp Ribera, Hematol, Valencia, Spain

:
 Hosp Badalona Germans Trias & Pujol, Josep Carreras Leukemia Res Inst, Inst Catala Oncol, Badalona, Spain

del Canizo-Roldan, MC:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain

Diez-Campelo, M:
 Hosp Univ Salamanca IBSAL, Hematol, Salamanca, Spain
ISSN: 17515521





International Journal of Laboratory Hematology
Editorial
Blackwell Science, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA, Reino Unido
Tipo de documento: Article
Volumen: 41 Número: 1
Páginas: 109-117
WOS Id: 000456189300021
ID de PubMed: 30290085

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