Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report

作者全名："Guo, Yuxia; Liao, Xin; Zou, Pinli; Xiao, Jianwen"

作者地址："[Guo, Yuxia; Liao, Xin; Zou, Pinli; Xiao, Jianwen] Chongqing Med Univ, Childrens Hosp, Dept Hematol, Chongqing, Peoples R China; [Guo, Yuxia] Chongqing Key Lab Pediat, Chongqing, Peoples R China; [Liao, Xin; Zou, Pinli] Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China; [Xiao, Jianwen] China Int Sci & Technol Cooperat Ctr Child Dev &, Chongqing, Peoples R China"

通信作者："Xiao, JW (通讯作者)，136,Zhongshan 2nd Rd, Chongqing, Peoples R China."

来源：AME CASE REPORTS

ESI学科分类：　

WOS号：WOS:000798198600009

JCR分区：Q3

影响因子：0.6

年份：2021

卷号：5

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：Fanconi anemia (FA); acute myeloid leukemia (AML); acute lymphoblastic leukemia (ALL); children; case report

摘要："Fanconi anemia (FA) is the most common inherited bone marrow failure disorder, with a predisposition to neoplasia. While Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) are the most common hematologic malignancies seen in patients with FA, cases of acute lymphoblastic leukemia (ALL) have also been described in the literature but it is uncommon. In our case report, a 12 years 5 months old boy, who was detected with heterozygote mutation of FANCC gene and nonsynonymous single nucleotide variability (SNV) mutation of AKAP9 gene, presented with precursor T cell ALL (T-ALL) at onset, myelodysplasia or myeloid biomarkers were not found at initial diagnosis. He received chemotherapy and achieved complete remission (CR) after a course of remission induction, but severe cytopenia was presented, sepsis and Invasive fungal infection also arose. With following-up and continue chemotherapy, secondary AML arose 17 months later, the patient died of sepsis related to chemotherapy at AML status. FA patients usually presented with homozygous or bilateral heterozygosity mutation in literature reports, whereas heterozygosity gene mutation of FANCC and AKAP9 has not reported yet. AKAP9 protein which was encoded by AKAP9 gene is widely distributed in many kinds of cells, thus ensuring the specificity and accuracy of signal transduction. We speculate that AKAP9 protein may interfere with the normal signal transduction of heterozygous mutation expression of FANCC gene and result in the inactivation of FANCC gene function. Unfortunately, the patient died of sepsis and we don't have enough blood samples to explore the role of AKAP9 gene mutation in patients with heterozygosity FANCC gene mutation."

基金机构：National Natural Science Foundation of China [81900162]; Chongqing Science and Technology Commission of China PR [cstc2018jsyj-jsyjX0015]

基金资助正文：The study was supported by the National Natural Science Foundation of China (Project No. 81900162) and the Chongqing Science and Technology Commission of China PR (Project No. cstc2018jsyj-jsyjX0015).