Molecular diagnostic criteria of myeloproliferative neoplasms

被引:2
作者
Andrews, Claire [1 ]
Conneally, Eibhlin [2 ]
Langabeer, Stephen E. [3 ]
机构
[1] St Vincents Univ Hosp, Dept Haematol, Dublin, Ireland
[2] St James Hosp, Dept Haematol, Dublin, Ireland
[3] St James Hosp, Canc Mol Diagnost, Dublin, Ireland
关键词
Myeloproliferative neoplasms; molecular diagnostics; next-generation sequencing; molecular scoring system; prognosis; INTERNATIONAL PROGNOSTIC SCORE; TYPE-2 CALRETICULIN MUTATIONS; JAK2; EXON-12; MUTATIONS; POST-POLYCYTHEMIA-VERA; TYROSINE KINASE JAK2; ESSENTIAL THROMBOCYTHEMIA; PRIMARY MYELOFIBROSIS; DRIVER-MUTATIONS; CLONAL HEMATOPOIESIS; SOMATIC MUTATIONS;
D O I
10.1080/14737159.2023.2277370
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
IntroductionMyeloproliferative neoplasms (MPN) are a heterogeneous group of clonal hematopoietic stem cell neoplasms characterized by the driver mutations JAK2, CALR, and MPL. These mutations cause constitutive activation of JAK-STAT signaling, which is central to pathogenesis of MPNs. Next-generation sequencing has further expanded the molecular landscape allowing for improved diagnostics, prognostication, and targeted therapy.Areas coveredThis review aims to address current understanding of the molecular diagnosis of MPN not only through improved awareness of the driver mutations but also the disease modifying mutations. In addition, other genetic factors such as clonal hematopoiesis of indeterminate potential (CHIP), order of mutation, and mutation co-occurrence are discussed and how these factors influence disease initiation and ultimately progression. How this molecular information is incorporated into risk stratification models allowing for earlier intervention and targeted therapy in the future will be addressed further.Expert opinionThe genomic landscape of the MPN has evolved in the last 15 years with integration of next-generation sequencing becoming the gold standard of MPN management. Although diagnostics and prognostication have become more personalized, additional studies are required to translate these molecular findings into targeted therapy therefore improving patient outcomes.
引用
收藏
页码:1077 / 1090
页数:14
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