Lee Hyun Gyung, Baek Hee Jo, Kim Ho Sung, Park Soo Min, Hwang Tai Ju, Kook Hoon
Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea.
Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun, Korea.
Blood Res. 2019 Mar;54(1):63-73. doi: 10.5045/br.2019.54.1.63. Epub 2019 Mar 21.
Acute leukemia (AL), not clearly assigned to myeloid, B-lymphoid, or T-lymphoid lineage, is classified as either biphenotypic acute leukemia (BAL) based on the European Group for Immunological Classification of Leukemias (EGIL) or acute leukemia of ambiguous lineage (ALAL) encompassing acute undifferentiated leukemia (AUL) and mixed-phenotype acute leukemia (MPAL) based on the World Health Organization (WHO) criteria.
Medical records of children newly diagnosed with BAL or ALAL, based on the EGIL or the 2008/2016 WHO criteria, respectively, admitted at Chonnam National University Hospital in 2001-2017 were retrospectively reviewed.
Twelve (3.2%) of 377 AL patients satisfied the BAL or ALAL definitions based on the EGIL or the WHO criteria, respectively. Among 12 patients including 11 with BAL and another with undefined case based on the EGIL criteria, 7 (1.9%) had ALAL based on more stringent 2016 WHO criteria (AUL, 2; MPAL, 5). One patient had MPAL with t(9;22)(q34;q11.2), +, and two had gene abnormality. ALL-directed regimen was associated with better complete remission rate compared with AML-directed regimen (100.0% vs. 16.7%; =0.015). The 5-year overall survival (OS) and event-free survival (EFS) were 51.1±15.8% and 51.9±15.7%, respectively. AUL was associated with poor OS and EFS compared with MPAL (0.0% vs. 75.0±21.7%; =0.008).
Due to the rarity of the cases, future multicenter, prospective studies incorporating large number of cases are urgently warranted to identify the clinical, biologic, and molecular markers for the prediction of prognosis and determine the best tailored therapy for each patient.
急性白血病（AL）若不能明确归为髓系、B淋巴细胞系或T淋巴细胞系，则根据欧洲白血病免疫分类小组（EGIL）标准被分类为双表型急性白血病（BAL），或根据世界卫生组织（WHO）标准被分类为谱系不明确的急性白血病（ALAL），后者包括急性未分化白血病（AUL）和混合表型急性白血病（MPAL）。
回顾性分析2001年至2017年在全南国立大学医院收治的、分别根据EGIL或2008/2016 WHO标准新诊断为BAL或ALAL的儿童的病历。
377例AL患者中，分别有12例（3.2%）符合基于EGIL或WHO标准的BAL或ALAL定义。在这12例患者中，包括11例根据EGIL标准诊断为BAL的患者和1例未明确分类的患者，根据更严格的2016 WHO标准，7例（1.9%）为ALAL（2例AUL，5例MPAL）。1例患者为伴有t(9;22)(q34;q11.2)、+的MPAL，2例患者存在基因异常。与AML导向方案相比，ALL导向方案的完全缓解率更高（100.0%对16.7%；P = 0.015）。5年总生存率（OS）和无事件生存率（EFS）分别为51.1±15.8%和51.9±15.7%。与MPAL相比，AUL的OS和EFS较差（0.0%对75.0±21.7%；P = 0.008）。
由于病例罕见，迫切需要开展未来多中心、前瞻性研究纳入大量病例，以确定预测预后的临床、生物学和分子标志物，并为每位患者确定最佳的个体化治疗方案。
