DTA

Corso Ordinario Ciclo Unico 6 Anni

MANZATO, ENRICA

etd-11042021-220451

Single nucleotide polymorphisms as prognostic and predictive factors in multiple myeloma patients

Cl. Sc. Sperimentali - Medicina

SCIENZE MEDICHE - SCIENZE MEDICHE

relatore Prof. PASSINO, CLAUDIO
Relatore Prof. Gabriele Buda
Membro Prof. EMDIN, MICHELE
Membro Prof. LIONETTI, VINCENZO
Membro Prof. RECCHIA, FABIO ANASTASIO
Membro Prof. COCEANI, FLAVIO
Membro Prof.ssa ANGELONI, DEBORA
Membro Dott.ssa CASIERI, VALENTINA
Membro Prof. GIANNONI, ALBERTO

• ABCB1
• bortezomib
• multiple myeloma
• single nucleotide polymorphisms
• thalidomide

20/12/2021;

parziale

Multiple myeloma (MM) represents the second most common hematological tumor and, while still incurable, benefits from a certain wealth of therapeutic options, with various novel drugs being approved in the last twenty years (e.g., proteasome inhibitors, immunomodulatory agents, monoclonal anti-CD38 antibodies). However, this leads to the need to identify more precise prognostic and predictive factors to better tailor treatment to each patient, and single nucleotide polymorphisms (SNPs) are being extensively studied in this regard. This work intends to contribute to this line of research by focusing on the role of ATP-binding cassette subfamily B member 1 (ABCB1) in newly diagnosed transplant-eligible MM patients treated with the standard front-line therapy of bortezomib, thalidomide and dexamethasone. More specifically, the three most important SNPs (rs1045642, rs1128503 and rs2032582) have been analyzed and their correlation with response to treatment, progression free survival (PFS) and overall survival (OS) evaluated, finding some interesting trends for the impact of rs1045642 on the latter two. However, further studies are needed to confirm these results and better understand the mechanisms behind these outcomes.

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