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

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.