Publications by authors named "M Pertesi"
Mosaic chromosomal alterations (mCAs) in hematopoietic cells increase mortality and risk of hematological cancers and infections. We investigated the landscape of mCAs and their clinical consequences in 976 patients with multiple myeloma undergoing high-dose chemotherapy and autologous stem cell support (ASCT) with median 6.4 years of follow-up.
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- Multiple myeloma (MM) is a type of cancer affecting plasma cells, with a significant genetic component that is not fully understood.
- A large genome-wide study identified 35 risk loci related to MM, including 12 new ones, and revealed two main inherited risk factors: longer telomeres and higher levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in the blood.
- The genetic variant rs34562254-A increases the risk of MM by enhancing B-cell responses, contrasting with loss-of-function variants in TNFRSF13B that lead to B-cell immunodeficiency.
Hematopoietic stem cells (HSCs) enable hematopoietic stem cell transplantation (HCT) through their ability to replenish the entire blood system. Proliferation of HSCs is linked to decreased reconstitution potential, and a precise regulation of actively dividing HSCs is thus essential to ensure long-term functionality. This regulation becomes important in the transplantation setting where HSCs undergo proliferation followed by a gradual transition to quiescence and homeostasis.
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