LIMITATIONS OF NEXT-GENERATION SEQUENCING IN DETECTING LOW-ALLELE BURDEN JAK2 V617F MUTATION: IMPLICATIONS FOR DIAGNOSIS AND MOLECULAR MONITORING IN 3,888 PATIENTS (SIE 2026) - Oct 6, 2026 - Abstract #C035; Pres time: Sep 21, 2026; 03:40 PM - 05:10 PM; Location: HALL 3; "A combined qPCR-NGS approach is therefore essential for accurate diag- nosis. Particularly in view of potential treatment discontinua- tion or in the evaluation of response to therapies such as ruxolitinib and interferon, VAF represents an increasingly important parameter for disease monitoring and clinical de- cision-making, especially at very low levels where it enables a more precise quantification of minimal residual disease and molecular response."
Biomarker • Clinical • Next-generation sequencing • Myelodysplastic Syndrome • Myeloproliferative Neoplasm • JAK2
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C. Barbato1; T. Femiano1; A. Zanniti1; S. Errichiello1; A. Galdiero1; R. Visconti1; A. Potenza1; C. Del Prete1; G. Esposito1; M. Capone1; G. Pennacchio1; V. Pallotta1; R. Farina1; A. Siniscalchi1; F. Grimaldi2; N. Pugliese2; F. Quarantelli1; B. Izzo1,3
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