000168451 001__ 168451
000168451 005__ 20260205155159.0
000168451 0247_ $$2doi$$a10.1007/s00277-026-06774-y
000168451 0248_ $$2sideral$$a147900
000168451 037__ $$aART-2026-147900
000168451 041__ $$aeng
000168451 100__ $$aGonzález-Resina, Rita
000168451 245__ $$aDiagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden
000168451 260__ $$c2026
000168451 5060_ $$aAccess copy available to the general public$$fUnrestricted
000168451 5203_ $$aPolycythemia vera (PV) and essential thrombocythemia (ET) are chronic myeloproliferative neoplasms (MPNs), often associated with mutations in JAK2, CALR, and MPL. Differentiating PV from ET can be challenging in borderline cases, particularly when hemoglobin (Hb), hematocrit (Hct) and erythropoietin (EPO) values are inconclusive. Functional iron parameters and JAK2 variant allele frequency (VAF) may provide additional discriminatory value. To assess the diagnostic utility of transferrin saturation index (TSI), serum ferritin, EPO, and JAK2 VAF in distinguishing PV from ET, and to evaluate their association with mutational profiles. We conducted a retrospective, single-center study including 260 adult patients diagnosed with PV or ET between 2009 and 2024. Demographic, clinical, molecular, and laboratory parameters—including ferritin, TSI, EPO, Hb, Hct, and JAK2 VAF—were analyzed. Comparative and correlation analyses were performed using appropriate statistical tests. Compared to ET, patients with PV had significantly lower ferritin (median: 35.65 vs. 95.05 ng/mL), TSI (12.9% vs. 21.64%), and EPO (2.23 vs. 6.11 mIU/mL), but higher Hb (17.7 vs. 14.3 g/dL) and Hct (54.6% vs. 43.0%) (all p < 0.001). TSI discriminated PV from ET better than ferritin (p < 0.001 vs. p = 0.128). Among JAK2-mutated cases, VAF was higher in PV than ET (median: 48% vs. 21%, p = 0.003). VAF correlated inversely with ferritin, TSI, and EPO, and positively with Hct. TSI and JAK2 VAF outperform ferritin as diagnostic markers to differentiate PV from ET. Integrating functional iron parameters with molecular data improves diagnostic accuracy, particularly in clinically ambiguous cases, and supports their inclusion in MPN diagnostic algorithms.
000168451 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttps://creativecommons.org/licenses/by/4.0/deed.es
000168451 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000168451 700__ $$aEspaña-Fernández de Valderrama, Sara
000168451 700__ $$aMontañés, Ángeles$$uUniversidad de Zaragoza
000168451 700__ $$0(orcid)0000-0001-5129-8597$$aRecasens, Valle$$uUniversidad de Zaragoza
000168451 700__ $$0(orcid)0000-0001-6623-780X$$aCaballero, Gonzalo
000168451 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000168451 773__ $$g105, 59 (2026), 6$$pAnn. hematol.$$tANNALS OF HEMATOLOGY$$x0939-5555
000168451 8564_ $$s850089$$uhttps://zaguan.unizar.es/record/168451/files/texto_completo.pdf$$yVersión publicada
000168451 8564_ $$s2328672$$uhttps://zaguan.unizar.es/record/168451/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000168451 909CO $$ooai:zaguan.unizar.es:168451$$particulos$$pdriver
000168451 951__ $$a2026-02-05-14:36:51
000168451 980__ $$aARTICLE