朗格汉斯细胞组织细胞增多症的基因组改变。

IF 2.5 3区医学 Q2 HEMATOLOGY

Hematology-Oncology Clinics of North America Pub Date : 2025-03-24 DOI:10.1016/j.hoc.2025.02.001

Nitya Gulati, Erin Peckham-Gregory, D Williams Parsons, Carl E Allen

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引用次数: 0

摘要

朗格汉斯细胞组织细胞增多症（LCH）是一种髓系肿瘤疾病，以克隆性组织细胞的炎症病变为特征。LCH是通过激活丝裂原活化蛋白激酶（MAPK）途径突变来驱动的。BRAFV600E是最常见的突变，在发病时与更广泛的疾病以及一线治疗失败、肝脏疾病和lch相关神经变性的风险相关。遗传血统影响LCH，在西班牙裔人群中发病率最高。MAPK抑制剂是有效的，但在大多数情况下不能治愈。基于体细胞突变和/或外周血可检测突变的前瞻性风险分层临床试验可能改善LCH患者的预后。

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Genomic Alterations in Langerhans Cell Histiocytosis.

Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder characterized by inflammatory lesions with clonal histiocytes. LCH is driven by activating mitogen-activated protein kinase (MAPK) pathway mutations. BRAF^V600E is the most common mutation and is associated with more extensive disease at presentation and risks of front-line treatment failure, liver disease, and LCH-associated neurodegeneration. Genetic ancestry influences LCH with highest incidence in Hispanic populations. MAPK inhibitors are effective, but do not achieve cure in most cases. Clinical trials prospectively testing risk-stratification based on somatic mutation and/or detectable mutation in peripheral blood may improve outcomes for LCH patients.

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来源期刊

Hematology-Oncology Clinics of North America 医学-血液学

CiteScore

4.10

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Hematology/Oncology Clinics updates you on the latest trends in patient management, keeps you up to date on the newest advances, and provides a sound basis for choosing treatment options. Under the direction of an experienced guest editor, each issue focuses on a single topic in hematology and oncology, including hemostasis and thrombosis, molecular and cellular basis of hematology, coagulation disorders, and cancers—bone, gastrointestinal, head and neck, lymphomas, neuroendocrine, breast, renal cell, melanoma, and more.