胸骨骨髓细胞形态学在染色体核型正常获得性低增生性骨髓衰竭综合征且患者中的诊断价值

OBJECTIVE: Diagnostic value assessment of sternal bone marrow cell morphology in patients with acquired hypocellular bone marrow failure syndromes（BMFS）characterized by normal cytogenetics. METHODS: A total of 194 eligible patients with an acquired hypocellular BMFS pre-sternum diagnosis in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College from June 2014 to January 2019 were reviewed. Sternal bone marrow evaluation was performed, and a post-sternum diagnosis was made. Clinical characteristics and overall survival（OS）were then compared among patients with different post-sternum diagnosis. Binary logistic regression was used to develop a predictive scoring system. RESULTS: In 152 patients with pre-sternum AA diagnosis, 29 patients with a pre-sternum idiopathic cytopenia of undetermined significance（ICUS）diagnosis, and 13 patients with a pre-sternum clonal cytopenia of undetermined significance（CCUS）diagnosis, sternal bone marrow evaluation resulted in a change of diagnosis to hypocellular myelodysplastic syndrome（hypo-MDS）in 42.8％（65/152）, 24.1％（7/29）, and 30.8％（4/13）, respectively. Patients with a post-sternum hypo-MDS diagnosis showed a significant difference in OS compared with patients with a post-sternum AA diagnosis（P＝0.005）. Patients with ICUS/CCUS showed no difference in OS compared with AA and hypo-MDS（P＝0.095 and P＝0.480, respectively）. A 4-item predictive scoring system to identify hypocellular BMFS patients that need sternal bone marrow evaluation was developed, including age > 60 years old（OR＝6.647, 95％ CI 1.954–22.611, P＝0.002, 2 points）, neutrophil alkaline phosphatase score ≤ 160（OR＝2.654, 95％ CI 1.214–5.804, P＝0.014, 1 point）, abnormal erythroid markers evaluated by flow cytometry on iliac bone marrow（OR＝6.200, 95％ CI 1.165–32.988, P＝0.032, 2 points）, and DAT（DNMT3A, ASXL1, TET2）genes mutation（OR＝4.809, 95％CI 1.587–14.572, P＝0.005, 1 point）. The Akaike information criterin（AIC）was 186.1. CONCLUSION: Patients with a pre-sternum acquired hypocellular BMFS diagnosis characterized by normal cytogenetics may not reach accurate diagnostic categorization without sternal bone marrow cell morphology evaluation, which could be considered a diagnostic tool for this patient population. A predictive scoring system was developed, and when the total score is ≥ 2 points, sternal bone marrow evaluation should be performed for accurate diagnostic categorization that is critical to optimal patient care.