Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
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Pearson 综合征中 7 号单体的获得和 RUNX1 突变
DOI：
10.1002/pbc.28799
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发表时间：
2020
影响因子：
3.2
通讯作者：
Manabe Atsushi
中科院分区：
文献类型：
--
作者：
Nishimura Akira;Hirabayashi Shinsuke;Hasegawa Daisuke;Yoshida Kenichi;Shiraishi Yuichi;Ashiarai Miho;Hosoya Yosuke;Fujiwara Tohru;Harigae Hideo;Miyano Satoru;Ogawa Seishi;Manabe Atsushi
皮尔逊综合征（PS）是一种非常罕见且通常致命的多系统疾病，由线粒体DNA缺失引起，导致铁粒幼细胞性贫血、骨髓前体空泡化和胰腺功能障碍。贫血的自然恢复通常在诊断后几年内观察到。我们介绍了一例4个月大的男性，诊断为PS，在7号单体出现之前经历了长期严重的全血细胞减少症。全外显子组测序确定了两个体细胞突变，包括先前报道的与骨髓恶性肿瘤相关的RUNX1p.S100F。与PS相关的分子缺陷可能具有进展为晚期骨髓增生异常综合征的潜力。
Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4‐month‐old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole‐exome sequencing identified two somatic mutations, includingRUNX1p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .