46, XX male syndrome is a rare disorder of sex development. One-tenth of 46, XX male syndrome is sex-determining region Y (SRY)-negative. We used whole-exome sequencing (WES) analysis associated genes to investigate the underlying genetic etiology of 46, XX male syndrome patients with bone marrow failure with a typical male phenotype. WES reveals SRY and SRY-box family genes were negative. Simultaneously, gene variants were detected in female pathway, testis development, and steroid receptor genes. There are undefined gene variants associated with congenital bone marrow failure. WES proved an efficient diagnostic method toward 46, XX male syndrome patients with hematological disorder.

Background: Deletion of cyclin-dependent kinase inhibitor 2A (CDKN2A) is prevalent in pediatric acute lymphoblastic leukemia (ALL) and the prognostic importance of CDKN2A deletion is still controversial. Procedure: A total of newly diagnosed 655 pediatric ALL cases were treated with Chinese Children’s Leukemia Group-acute lymphoblastic leukemia 2015 (CCLG-ALL 2015) protocol[1]. We investigated the difference among B-ALL and T-ALL patients with CDKN2A deletion for clinical characteristics at diagnosis, immunophenotype, risk stratification, cytogenetic risk group, and early treatment responses.We also analyzed the prognostic markers for event-free survival(EFS) in CDKN2A-deleted patients. Result: The incidence of CDKN2A gene deletion was presented in 14.6% (87/595) of B-ALL subgroup and 40.0% (24/60) of T-ALL subgroup. T-ALL subgroup was characterized by a higher male/female ratio, a higher proportion of older children (>10 years old) and WBC counts of greater than 50x109/L compared to B-ALL(P<0.05). In the univariate analysis, CNS 2, cytogenetic risk groups, prednisone poor responders (PPR), poor early response (PER), and MRD≥0.01% at day 46 (P<0.05) were associated with a poor event-free survival. Multivariable analysis revealed that PPR and MRD≥0.01% at day 46 were independent inferior prognostic factors for event-free survival(P<0.05). Conclusions: The incidence of CDKN2A deletion was more prevalent in T-ALL. CDKN2A deletion was significantly more prevalent in older (>10 years old) boys with leukocyte counts of greater than 50x109/L among T-ALL. PPR and MRD≥0.01% at day 46 were an independent prognostic factor for EFS in pediatric CDKN2A-deleted ALL.