• Lili Feng, Ying Li, Yujie Jiang, Na Wang, Dai Yuan, and Juan Fan.
• Department of Hematology, Provincial Hospital Affiliated to Shandong University Department of Diagnostics, Shandong University School of Medicine, Jinan, China.
• Medicine (Baltimore). 2018 Sep 1; 97 (36): e12214e12214.

RationaleAcute 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.Patient ConcernsAn 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.DiagnosesShe 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.InterventionsThe patient received Idarubicin (8 mg/m) injection intravenous drip for 3 days based on all-trans retinoic acid and arsenic trioxide induction therapy.OutcomesThe patient died from disseminated intravascular coagulation and multiple organ hemorrhage at 9 days after diagnosis.LessonsThis 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.

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