Geetha Saroja Devi, Singh Ram, Shaham Meira, Cohen Ninette, Sticco Kristin
Department of Pathology and Laboratory Medicine, North Shore University Hospital and Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, 2200 Northern Blvd, Suite 104, Greenvale, NY 11548, United States.
Cytogenetics Laboratory, Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, United States.
Leuk Res Rep. 2023 Jul 20;20:100381. doi: 10.1016/j.lrr.2023.100381. eCollection 2023.
Transient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized by increased peripheral blasts and presence of mutation. The clinical spectrum ranges from jaundice and hepatosplenomegaly to multi-organ failure and death. Here we present a case of a premature baby with DS diagnosed to have TAM with extramedullary involvement at birth who had a fatal outcome.
A 30.3-week-old female fetus with DS had leukocytosis (WBC: 187.82 K/uL) with neutrophilia (ANC 27.65 K/uL), macrocytic anemia (RBC: 2.41 m/uL, Hb 8.8 g/dL, MCV 108.3, MCH 36.5, MCHC 33.7) and thrombocytosis (platelet count 361 K/uL) at birth. Liver panels demonstrated normal bilirubin levels with elevated liver enzymes (AST = 239 U/L, ALT = 216 U/L).
Peripheral smear showed marked leukocytosis with increased blasts (70%), nucleated RBCs, giant platelets, and megakaryocytic elements. Flow cytometry demonstrated two populations of cells: 20% myeloblasts and 26% dim CD45 CD34- cells. mutation was present. Based on these findings a diagnosis of TAM with extramedullary hematopoiesis was made. She received two cycles of cytarabine chemotherapy. Though her WBC levels reached a low of 18.93 K/uL, she developed multi-organ failure, eventually leading to death on day 45.
TAM is a transient condition resulting in disease resolution in around 80% of cases. Death is reported in 10% of cases. Risk factors associated with early death include prematurity, hyperleukocytosis, elevated bilirubin levels. Management of high-risk babies with chemotherapy is recommended to improve survival.
短暂性异常骨髓造血（TAM）是一种唐氏综合征（DS）婴儿特有的短暂性克隆性骨髓增殖性疾病。其特征为外周血原始细胞增多以及存在突变。临床症状范围从黄疸和肝脾肿大到多器官衰竭和死亡。在此，我们报告一例患有DS的早产儿，出生时被诊断为TAM并伴有髓外受累，最终死亡。
一名30.3周龄患有DS的女胎出生时白细胞增多（白细胞计数：187.82K/μL）伴中性粒细胞增多（中性粒细胞绝对值27.65K/μL）、大细胞性贫血（红细胞计数：2.41m/μL，血红蛋白8.8g/dL，平均红细胞体积108.3，平均红细胞血红蛋白含量36.5，平均红细胞血红蛋白浓度33.7）和血小板增多（血小板计数361K/μL）。肝功能检查显示胆红素水平正常但肝酶升高（谷草转氨酶=239U/L，谷丙转氨酶=216U/L）。
外周血涂片显示明显的白细胞增多，原始细胞增加（70%）、有核红细胞、巨大血小板和巨核细胞成分。流式细胞术显示有两类细胞群体：20%的原始粒细胞和26%的低表达CD45 CD34-细胞存在突变。基于这些发现，诊断为伴有髓外造血的TAM。她接受了两个周期的阿糖胞苷化疗。尽管她的白细胞水平降至最低18.93K/μL，但她仍发展为多器官衰竭，最终在第45天死亡。
TAM是一种短暂性疾病，约80%的病例病情会缓解。据报道，10%的病例会死亡。与早期死亡相关的危险因素包括早产、白细胞增多症、胆红素水平升高。建议对高危婴儿进行化疗以提高生存率。
