Pediatric acute myeloid leukemia patients with i(17)(q10)mimicking acute promyelocytic leukemia:Two case reports  

作　　者：Hong-Xia Yan Wei-Hua Zhang Jin-Quan Wen Yan-He Liu Bao-Juan Zhang A-Duo Ji 

机构地区：[1]Department of Healthcare,Rainbow Hospital of Xianyang,Xianyang 721000,Shaanxi Province,China [2]Department of Pediatric Intensive Care Unit,Rainbow Hospital of Xianyang,Xianyang 721000,Shaanxi Province,China [3]Department of Pediatric Hematology/Oncology,Rainbow Hospital of Xianyang,Xianyang 721000,Shaanxi Province,China [4]Department of Pediatric Hemato-logy/Oncology,Rainbow Hospital of Xianyang,Xianyang 721000,Shaanxi Province,China

出　　处：《World Journal of Clinical Cases》2022年第16期5446-5455,共10页世界临床病例杂志

基　　金：Supported by Shaanxi Natural Science Foundation,No.2020SF-004.

摘　　要：BACKGROUND Chromosome i(17)(q10)abnormality is mainly associated with chronic myeloid leukemia(CML),myelodysplastic syndrome/myeloproliferative tumors(MDS/MPD),and acute myeloid leukemia(AML).The role of i(17)(q10)in AML is still unknown,the differences between AML and acute promyelocytic leukemia(APL)-like AML with i(17)(q10)need more research.This study aimed to investigate the clinical characteristics and laboratory evidence of 2 AML cases with i(17)(q10),similar to APL phenotype.CASE SUMMARY Both pediatric patients were males;case 1 had newly diagnosed AML,and case 2 showed relapsed tumor after 1 year of drug withdrawal.Bone marrow cell morphology,chromosome karyotype analysis,Fully-instrumented submersible housing test,immunological assays,molecular biological methods,and blood tumor panoramic gene test were performed.All-trans retinoic acid(ATRA)combined with arsenic acid(As2O3)were used in the first course of treatment.Bone marrow was dominated by abnormal promyelocytic granulocytes.Karyotype test revealed i(17)(q10)isochromosome.Immunological phenotype mainly included positive expressions of CD9,CD13,CD33,and CD38.Case 1 suffered intracranial hemorrhage after re-chemotherapy and died on D162.For case 2,on D145 and D265,bone marrow promyelocytic granulocytes accounted for 2%.Flow cytometric residual lesion detection showed no abnormal immunophenotype cells.The copy number of WT1 gene in two cases were 1087 and 1010,respectively,and the expression rates were 55.29% and 59.5%,respectively.CONCLUSION ATRA,As2O3,and chemotherapy may be ineffective in treating APL-like AML with i(17)(q10)but without t(15;17)and PML-RARA fusion gene.

关 键 词：CHROMOSOME i(17)(q10) Gene mutations Acute promyelocytic leukemia Acute myeloid leukemia Case report 

分 类 号：R733.71[医药卫生—肿瘤]