Background Acute promyelocytic leukemia (APL) is characterized by fusion of PML/RARα genes as a result of t(15;17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapies based on all-trans retinoic acid (ATRA) and arsenic trioxide (ATX). Extramedullary (EM) relapse is a rare event in APL, ear involvement being even more infrequent, with only six cases so far described. About 30-35% of patients with newly diagnosed APL have additional cytogenetics abnormalities, whose prognostic significance is still controversial. The most common additional aberration is trisomy 8 or partial gain 8q. Case presentation We describe here a novel unbalanced translocation der(3)t(3;8)(q29;q23.3-q24.3) associated with 8q partial gain in a 41 year-old man affected by APL in molecular remission after first line treatment, who had a responsive EM relapse in the auditory canal. Conclusions EM relapse is a rare event in APL and ear involvement is even more infrequent. To our knowledge, this is the first reported case of APL with a new der(3)t(3;8)(q29;q23.3-q24.3) and 8q partial gain associated with t(15;17)(q24;q21). Despite the recurrence of the disease at EM level, the clinical outcome of this patients was favorable.

中文翻译：

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一例急性早幼粒细胞白血病变异，其衍生染色体 3 der(3)t(3;8) 与 8q 部分增益相关。

背景 急性早幼粒细胞白血病 (APL) 的特征是 PML/RARα 基因因 t(15;17)(q24;q21) 而融合。由于基于全反式维甲酸 (ATRA) 和三氧化二砷 (ATX) 的分子靶向疗法，APL 现在是可治愈的血液系统恶性肿瘤之一。髓外 (EM) 复发是 APL 中罕见的事件，耳部受累更为罕见，迄今为止仅描述了 6 例。大约 30-35% 的新诊断 APL 患者有额外的细胞遗传学异常，其预后意义仍有争议。最常见的附加畸变是 8 三体或部分增益 8q。案例介绍 我们在这里描述了一种新的不平衡易位 der(3)t(3;8)(q29;q23.3-q24。3) 与一名 41 岁男性在一线治疗后分子缓解中受 APL 影响的 8q 部分增益相关，该男性在耳道有反应性 EM 复发。结论 EM 复发是 APL 中罕见的事件，耳部受累更为罕见。据我们所知，这是首例报告的 APL 病例，新的 der(3)t(3;8)(q29;q23.3-q24.3) 和 8q 部分增益与 t(15;17)(q24 ;q21)。尽管该疾病在 EM 水平上复发，但该患者的临床结果是有利的。