背景:急性早幼粒细胞白血病(APL)是一种急性髓系白血病,其特征在于存在PML/RARα融合基因。先前已报道CHST3的突变与骨骼发育不良的罕见表型有关,被称为脊椎骨发育不良。在这里,我们报告了1例CHST3突变的APL患者。
方法:一名18岁女孩因反复发烧和皮肤出血的长期病史(10天)而被转诊至血液科。这个女孩因年龄而身材矮小,手指短。双甲床短,具有抗指甲畸形。
方法:根据MICM分析后的2016年WHO分类,她被诊断为APL(骨髓形态学[M],免疫表型[I],细胞遗传学[C],和分子生物学[M])。全外显子组测序显示CHST3上的复杂杂合突变。进一步证实显示1个突变(c.155T>G;p.Leu52Arg)来自她的父亲,而另一个突变(c.1414G>A;p.Glu472Lys)来自她的母亲。
方法:患者在全反式维甲酸和三氧化二砷诱导治疗的基础上,接受伊达比星(8mg/m)注射液静脉滴注3天。
结果:患者在诊断后9天死于弥散性血管内凝血和多器官出血。
结论:本病例描述了一名CHST3上具有复杂杂合突变的APL患者。发现碳水化合物磺基转移酶在肿瘤细胞的转移扩散中起重要作用。CHST3基因的突变状态是否与APL的发病及预后有关尚不清楚。
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: The patient received Idarubicin (8 mg/m) injection intravenous drip for 3 days based on all-trans retinoic acid and arsenic trioxide induction therapy.
RESULTS: The patient died from disseminated intravascular coagulation and multiple organ hemorrhage at 9 days after diagnosis.
CONCLUSIONS: 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.