Dey Biswajit, Dutta Anirban
North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Department of Pathology, Shillong, Meghalaya, India.
University of Hawaii John A. Burns School of Medicine, Department of Pediatrics, Honolulu, Hawaii, United States of America.
Autops Case Rep. 2023 Apr 13;13:e2023426. doi: 10.4322/acr.2023.426. eCollection 2023.
Chronic myeloid leukemia (CML) accounts for 2-3% of childhood leukemias. About 5% of cases present in a blastic phase of CML which clinically and morphologically mimics more common acute leukemias of childhood. We report a case of a 3-year-old male who presented with gradual onset swelling of the abdomen and extremities along with generalized weakness. Examination revealed massive splenomegaly, pallor, and pedal edema. Initial workup showed anemia, thrombocytopenia, and leukocytosis (120,000/uL) with a blast percentage of 35%. Blasts were positive for CD13, CD33, CD117, CD34 and HLA-DR, and stained negative for Myeloperoxidase and Periodic Acid Schiff. Fluorescence in situ hybridization was positive for b3a2/e14a2 junction BCR-ABL1 transcript and negative for RUNX1-RUNX1T1/t(8;21), clinching the diagnosis of CML in myeloid blast crisis. The patient expired within 17 days of diagnosis and initiation of therapy.
慢性髓系白血病（CML）占儿童白血病的2%-3%。约5%的病例表现为CML的急变期，在临床和形态学上类似于更常见的儿童急性白血病。我们报告一例3岁男性患者，其表现为腹部和四肢逐渐肿胀并伴有全身无力。检查发现脾脏肿大、面色苍白和足部水肿。初步检查显示贫血、血小板减少和白细胞增多（120,000/μL），原始细胞百分比为35%。原始细胞CD13、CD33、CD117、CD34和HLA-DR呈阳性，髓过氧化物酶和过碘酸希夫染色呈阴性。荧光原位杂交检测b3a2/e14a2连接BCR-ABL1转录本呈阳性，RUNX1-RUNX1T1/t(8;21)呈阴性，确诊为髓系原始细胞危象期的CML。患者在诊断和开始治疗后17天内死亡。
