Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults

被引:0
作者
Ozygala, Aleksandra [1 ]
Rokosz-Mierzwa, Joanna [2 ]
Widz, Paulina [3 ]
Skowera, Paulina [1 ]
Wilinski, Mateusz [2 ]
Styka, Borys [1 ]
Lejman, Monika [1 ]
机构
[1] Med Univ Lublin, Independent Lab Genet Diagnost, PL-20093 Lublin, Poland
[2] Univ Childrens Hosp, Dept Genet Diagnost, PL-20093 Lublin, Poland
[3] Med Univ Lublin, Student Sci Soc Independent Lab Genet Diagnost, PL-20059 Lublin, Poland
关键词
myeloproliferative neoplasm; children; chronic myeloid leukemia (CML); polycythemia vera (PV); essential thrombocythemia (ET); primary myelofibrosis (PMF); chronic neutrophilic leukemia (CNL); chronic eosinophilic leukemia (CEL); juvenile myelomonocytic leukemia (JMML); JUVENILE MYELOMONOCYTIC LEUKEMIA; CHRONIC MYELOID-LEUKEMIA; CHRONIC NEUTROPHILIC LEUKEMIA; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; SOMATIC MUTATIONS; CALR MUTATIONS; JAK2; RISK; TET2;
D O I
10.3390/cancers16234114
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group. At present, modern diagnostic techniques, primarily genetic, facilitate the identification of the biology of these diseases. The key genes are JAK2, MPL, and CALR, namely, driver mutations, which are present in approximately 90% of patients with suspected MPN. Moreover, there are more than 20 other mutations that affect the development of these hematological malignancies, as evidenced by a review of the literature. The pathogenic mechanism of MPNs is characterized by the dysregulation of the JAK/STAT signaling pathway (JAK2, MPL, CALR), DNA methylation (TET2, DNMT3A, IDH1/2), chromatin structure (ASXL1, EZH2), and splicing (SF3B1, U2AF2, SRSF2). Although rare, myeloproliferative neoplasms can involve young patients and pose unique challenges for clinicians in diagnosis and therapy. The paper aims to review the biological markers of MPNs in pediatric populations-a particular group of patients that has been poorly studied due to the low frequency of MPN diagnosis.
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