Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm

Norman Abbou (1, 2) , Pauline Piazzola (3) , Jean Gabert (1, 2) , Vincent Ernest (4) , Robin Arcani (2, 5) , Anne-Laure Couderc (6) , Antoine Tichadou (3) , Pauline Roche (3) , Laure Farnault (3) , Julien Colle (2, 3) , L'Houcine Ouafik (7, 8) , Pierre Morange (2, 4) , Régis Costello (2, 3, 9) , Geoffroy Venton (2, 3, 9)

1 MARSEILLE - Biolo Moléculaire - Laboratoire de Biologie Moléculaire
2 C2VN - Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research
3 LA CONCEPTION - Hôpital de la Conception [CHU - APHM]
4 Laboratoire d'hématologie biologique [Hôpital de la Timone - Hôpital Nord - APHM]
5 TIMONE - Hôpital de la Timone [CHU - APHM]
6 Hôpitaux Sud - Hôpital Sainte-Marguerite [CHU - APHM]
7 INP - Institut de neurophysiopathologie
8 Service d'OncoBiologie
9 TAGC - Theories and Approaches of Genomic Complexity

BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are JAK2, CALR, and MPL, more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF.

Mots clés: myeloproliferative neoplasms; next-generation sequencing; driver mutations; additional somatic mutations

Domaines: Cancer

Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, et al.. Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm. Cells, 2023, 12 (1), pp.105. ⟨10.3390/cells12010105⟩. ⟨hal-03935016⟩