PS1562 IDENTIFYING RELATIONSHIP BETWEEN HEREDITARY PREDISPOSITION GENE AND COMPLICATIONS AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION IN ACUTE LEUKEMIA
Authors: Z. Li, T. WU, X. WEN, Y. zhao, Y. song, F. yang, Q. wen, L. feng
Journal: HemaSphere (2019)

Background: Hereditary predisposition gene in hematological Malignancies are being discovered increasingly in patients, and their identification is essential for proper medical management to yield positive health outcomes for patients and their families. There needs to be a greater appreciation of hereditary predisposition genes driving the development of hematologic malignancies. In particular, the primary haemophagocytic lymphohistiocytosis related genes that can play an important role in the functionnal of cytotoxic, Fanconi anemia related genes that can play an important role in DNA damage response and repair mechanisms,and Immunedeficiency related genes affected the production of inflammatory cytokine and antibody generated. Characterization of hereditary predisposition genes on the development of hematological malignancies is ongoing by utilization of next generation sequencing data and prognostic panels. Aims: In current study, the relationship between hereditary predisposition gene and complications such as infection, Graft versus host disease and recurrence after hematopoietic stem cell transplantation in acute leukemia were investigated. Methods: NGS sequencing technology was used to target and capture the DNA of patients before HSCT to detect hereditary predisposition gene related to hematological and immune system diseases. Between January 2018 and January 2019, consecutive 66 patients with media ages of 26 years (range: 2–45 years) of acute leukemia followed by allogeneic HSCT in our hospital were analyzed, which including 21 cases of Acute myeloid leukemia, 45 cases of acute lymphoblastic leukemia. 21 patients achieved CR1, 37patients achieved CR2, 2 patients achieved PR and 6 patients NR before HSCT. 56 patients were transplanted from HLA‐haploidentical family donors, 4 from HLA‐identical sibling donors, and 6 from a matched unrelated. Conditioning regimen include TBI and Non‐TBI. Results: Of the 66 patients, 24 patients are carried with HLH related gene accounting for 36.4%, 1 or 2 genes have been identified among carriers; 30 patients are carried with fanconi anemia related genea ccounting for 45.5%, 1 or 2 genes have been identified among carriers; 63 patients are carried with immunedeficiency related gene accounting for 95.5%, 1 to7 genes have been identified among carriers. For 66 patients, who occurred aGVHD in 41 patients carry with HLH related gene was significantly higher than that of none occurred aGVHD carry with HLH related gene ( p &lt;0.05), who occurred aGVHD carry with Fanconi anemia related gene was significantly higher than that of none occurred aGVHD carry with HLH related gene ( p &lt;0.05). 2 patients died, because of 1 with toxicity of conditioning regimen and 1 with cerebral hemorrhage. Of 64 with engraftment, 4 patients recurrence within 3 months,who carry with immunedeficiency related gene was significantly higher than that of none recurrence carry with immunedeficiency related gene ( p &lt;0.05). Summary/Conclusion: Hereditary predisposition gene in acute leukemia are closely related to the complications after hematopoietic stem cell transplantation. It may be related to the function of genes. Sample analysis needs to be further expanded. In addition, Hereditary predisposition gene play an important role in complication treatment and donor selection