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首页> 外文期刊>Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society >Hematogones in the Peripheral Blood of a 51/2-Month-Old Boy with Cyclic Neutropenia Due to Heterozygous, Novel ELANE Gene Mutation p.Q97P, c.290 A>C
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Hematogones in the Peripheral Blood of a 51/2-Month-Old Boy with Cyclic Neutropenia Due to Heterozygous, Novel ELANE Gene Mutation p.Q97P, c.290 A>C

机译：51/2个月大男孩因杂合症而导致周期性中性粒细胞减少的外周血中的血红素，新型ELANE基因突变p.Q97P，c.290 A> C

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摘要

We have identified a novel point mutation in the ELANE gene of a 5.5-month-old boy with severe cyclic neutropenia, and we are reporting for the first time, to our knowledge, the presence of hematogones in the peripheral blood of an infant. The novel point mutation occurred at base number 290 in codon 97, where adenine was replaced with cytosine. The mutation caused the replacement of amino acid glutamine with amino acid proline in the activation domain of the elastase 2 enzyme. The heterozygous mutation generated severe cyclic neutropenia, granulocytic maturation arrest, an increased number of hematogones (26% of marrow cells) in the bone marrow, an absence of neutrophils, and the presence of stage 3 (mature) hematogones in the peripheral blood. The percentage of hematogones in the peripheral blood was inversely proportional to the absolute number of neutrophils. Leukemic number of blast-like cells (hematogones) in the bone marrow, blast-like cells in the peripheral blood, marked neutropenia, and the arrest of granulopoiesis might suggest an acute leukemia. However, the finding of characteristic flow cytometric features of hematogones should help to avoid a wrong diagnosis.
机译：我们在一个5.5个月大的严重中性粒细胞减少症男孩的ELANE基因中发现了一个新的点突变，据我们所知，这是我们首次报道婴儿外周血中存在血红素。新的点突变发生在密码子97的第290位碱基处，腺嘌呤被胞嘧啶取代。该突变导致在弹性蛋白酶2酶的激活结构域中用氨基酸脯氨酸置换了谷氨酰胺。杂合突变产生严重的循环中性粒细胞减少症，粒细胞成熟停滞，骨髓中血红素数量增加（占骨髓细胞的26％），中性粒细胞不存在以及外周血中存在3期（成熟）血红素。外周血中血红素的百分比与中性粒细胞的绝对数量成反比。骨髓中的胚泡样细胞（hematogones）的白血病数量，外周血中的胚泡样细胞的白血病数量，明显的中性粒细胞减少和粒细胞生成的停滞可能提示急性白血病。然而，血红素特征性流式细胞仪特征的发现应有助于避免错误的诊断。

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