Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
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全外显子组测序检测急性早幼粒细胞白血病患者 CHST3 突变：病例报告。
DOI：
10.1097/md.0000000000012214
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发表时间：
2018-09
期刊：
影响因子：
1.6
通讯作者：
Fan J
中科院分区：
文献类型：
--
作者：
Feng L;Li Y;Li Y;Jiang Y;Wang N;Yuan D;Fan J
急性早幼粒细胞白血病（Acute promyelocytic leukemia，APL）是一种以PML/RARα融合基因存在为特征的急性髓系白血病。CHST 3的突变以前曾被报道与一种罕见的骨骼发育不良表型相关，称为脊椎骨骺发育不良。我们报告了1例伴有CHST 3突变的APL患者。一名18岁女孩因反复发热和皮肤出血的持续病史（10天）被转诊至血液科。这个女孩身材矮小，手指短。双甲床短，反甲畸形。根据MICM分析（骨髓形态学[M]、免疫表型[I]、细胞遗传学[C]和分子生物学[M]）后的2016年WHO分类，她被诊断为APL。全外显子组测序显示CHST 3上的复杂杂合突变。进一步的确认表明，1个突变（c.155T>G; p.Leu52Arg）来自她的父亲，另一个突变（c.1414G>A; p.Glu472Lys）来自她的母亲。患者在全反式维甲酸和三氧化二砷诱导治疗的基础上，接受艾达鲁肽（8 mg/m2）注射液静脉滴注3天。 患者于确诊后9天死于弥漫性血管内凝血和多器官出血。该病例描述了一例伴有CHST 3复杂杂合突变的APL患者。糖基磺基转移酶在肿瘤细胞的转移扩散中起重要作用。CHST 3基因突变状态与APL的发病及预后是否相关尚不清楚。
Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia. Here we reported 1 patient with APL with CHST3 mutations. An 18-year-old girl was referred to the Hematology Department because of a lasting history (10 days) of repeated fever and bleeding on skin. The girl was of short stature for age and with short fingers. Double nail beds were short with anti-nail deformity. She was diagnosed with APL according to the 2016 WHO classification after a MICM analysis (bone marrow morphology [M], immunophenotype [I], cytogenetics [C], and molecular biology [M]). Whole exome sequencing revealed complex heterozygous mutations on CHST3. Further confirmation showed that 1 mutation (c.155T>G; p.Leu52Arg) was from her father and the other mutation (c.1414G>A; p.Glu472Lys) was from her mother. The patient received Idarubicin (8 mg/m2) injection intravenous drip for 3 days based on all-trans retinoic acid and arsenic trioxide induction therapy. The patient died from disseminated intravascular coagulation and multiple organ hemorrhage at 9 days after diagnosis. This case describes a patient with APL with complex heterozygous mutations on CHST3. Carbohydrate sulfotransferases were found to play an important role in metastatic spread of tumor cells. Whether the mutation status of CHST3 gene has relationship with APL pathogenesis and prognosis is unknown.