Litcius/Paper detail

Inferring the initiation and development of myeloproliferative neoplasms

Gurvan Hermange, Alicia Rakotonirainy, Mahmoud Bentriou, Amandine Tisserand, Mira El-Khoury, François Girodon, Christophe Marzac, William Vainchenker, Isabelle Plo, Paul-Henry Cournède

2022Proceedings of the National Academy of Sciences26 citationsDOIOpen Access PDF

Abstract

The developmental history of blood cancer begins with mutation acquisition and the resulting malignant clone expansion. The two most prevalent driver mutations found in myeloproliferative neoplasms— JAK2 V617F and CALR m —occur in hematopoietic stem cells, which are highly complex to observe in vivo. To circumvent this difficulty, we propose a method relying on mathematical modeling and statistical inference to determine disease initiation and dynamics. Our findings suggest that CALR m mutations tend to occur later in life than JAK2 V617F . Our results confirm the higher proliferative advantage of the CALR m malignant clone compared to JAK2 V617F . Furthermore, we illustrate how mathematical modeling and Bayesian inference can be used for setting up early screening strategies.

Topics & Concepts

JAK2 V617Fclone (Java method)HaematopoiesisMyeloproliferative DisordersBiologyPolycythemia veraMutationLeukemiaStem cellCancer researchComputational biologyBioinformaticsGeneticsGeneImmunologyMyeloproliferative Neoplasms: Diagnosis and TreatmentKruppel-like factors researchAcute Myeloid Leukemia Research