Abstract：
Acute promyelocytic leukemia (APL) represents 5%-10% of childhood acute myeloid leukemia (AML) and is the most curable subtype of AML. Fanconi anemia (FA) is one of the most common inherited bone marrow failure syndromes caused by biallelic pathogenic variants (PV) in specific DNA-repair genes. Biallelic PVs in FANCD1/BRCA2 (FA-D1) account for 3% of FA and are associated with early-onset leukemia and a high risk of solid tumors. We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL. This child had café-au-lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in FANCD1/BRCA2 confirming a diagnosis of FA-D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all-trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL/FA, with a total of three patients with FA-D1. This raises the possibility of an association between such rare disorders. Practical management of APL in the setting of FA-D1 is discussed with an overview of current evidence and knowledge gaps.
摘要：
急性早幼粒细胞白血病（APL）占儿童急性髓性白血病（AML）的5％-10％，是AML中最可治愈的亚型。范可尼贫血（FA）是由特定DNA修复基因中的双等位基因致病变异（PV）引起的最常见的遗传性骨髓衰竭综合征之一。FANCD1/BRCA2双等位基因PVs(FA-D1)占FA的3%，与早发性白血病和实体瘤的高风险相关。我们报告了一名4岁男孩，该男孩来自非近亲父母，被诊断患有标准风险APL。这个孩子有咖啡色斑点和多余的拇指残留物。基因组测序显示FANCD1/BRCA2中有两个PV，证实了FA-D1的诊断。染色体断裂研究与FA相容。每个父母携带一个变体，没有个人癌症史。用全反式视黄酸和三氧化二砷实现形态然后分子缓解。该患者接受了单倍体干细胞移植。除了我们的病人,文献检索显示另外四名APL/FA患者，共有3例FA-D1患者。这增加了这种罕见疾病之间关联的可能性。讨论了在FA-D1设置中APL的实际管理，并概述了当前的证据和知识差距。
