Mixed phenotype acute leukaemia with t(9,22), BCR-ABL1: A case report.

免疫分型 医学 末端脱氧核苷酸转移酶 无症状的 髓样 川地34 人口 罕见病 免疫学 病理 疾病 干细胞 流式细胞术 生物 遗传学 免疫组织化学 标记法 环境卫生
作者
Wenjing Yong,N Yusof,Azlin Ithnin,Shuwahida Shuib,Rafeah Tumian,Ruqaya Yousuf,Suria Abdul Aziz
标识
摘要

Introduction Mixed phenotype acute leukaemia (MPAL) is a rare entity of acute leukaemia. Case report Here we report a case of a 39-year-old lady, with an incidental finding of hyperleukocytosis (white blood cells count: 139.2 x 109/L). Her peripheral blood film revealed 36% of blasts and a bone marrow aspiration showed 53% of blasts. Immunophenotyping showed a population of blasts exhibiting positivity of two lineages, myeloid lineage and B-lymphoid lineage with strong positivity of CD34 and terminal deoxynucleotidyl transferase (Tdt). A conventional karyotyping revealed the presence of Philadelphia chromosome. She was diagnosed with MPAL with t(9,22), BCR ABL1, which carried a poor prognosis. She was treated with acute lymphoblastic leukaemia (ALL) chemotherapy protocol coupled with a tyrosine kinase inhibitor and was planned for an allogeneic stem cells transplant. Conclusion This MPAL case was diagnosed incidentally in an asymptomatic patient during medical check-up. We highlight this rare case report to raise the awareness about this rare disease. Understanding the pathogenesis of the disease with the underlying genes responsible for triggering the disease, uniform protocols for diagnosis and targeted treatment will help for proper management of these patients.

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