Ozygała Aleksandra, Rokosz-Mierzwa Joanna, Widz Paulina, Skowera Paulina, Wiliński Mateusz, Styka Borys, Lejman Monika
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Department of Genetic Diagnostics, University Children's Hospital, 20-093 Lublin, Poland.
Cancers (Basel). 2024 Dec 8;16(23):4114. doi: 10.3390/cancers16234114.
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 , , and , 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 (, , ), DNA methylation (, , ), chromatin structure (, ), and splicing (, , ). 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.
骨髓增殖性肿瘤（MPNs）是一类克隆性造血系统癌症，其特征为髓系细胞过度增殖。这些克隆性骨髓疾病在儿科患者中极为罕见。据报道，MPN在成人中的发病率要高出100倍，因此研究主要集中在这一患者群体。目前，主要是基因检测等现代诊断技术有助于明确这些疾病的生物学特性。关键基因是 、 和 ，即驱动突变，大约90%疑似MPN患者中存在这些突变。此外，文献综述表明，还有20多种其他突变影响这些血液系统恶性肿瘤的发生发展。MPNs的致病机制表现为JAK/STAT信号通路（ 、 、 ）、DNA甲基化（ 、 、 ）、染色质结构（ ）和剪接（ 、 、 ）失调。尽管罕见，但骨髓增殖性肿瘤可累及年轻患者，给临床医生的诊断和治疗带来独特挑战。本文旨在综述儿科人群中MPNs的生物学标志物，这一特定患者群体因MPN诊断频率低而研究较少。
