Nozza Filomena, Vona Gabriella, Trino Stefania, D'Auria Fiorella, La Rocca Francesco, Grieco Vitina, Possidente Luciana, De Luca Luciana, Musto Pellegrino
Laboratory of Clinical Research and Advanced Diagnostics, IRCCS-CROB, Referral Cancer Center of Basilicata, Via Padre Pio 1, 85028 Rionero in Vulture, PZ Italy.
Laboratory of Preclinical and Translational Research, IRCCS-CROB, Referral Cancer Center of Basilicata, Via Padre Pio 1, 85028 Rionero in Vulture, PZ Italy.
Mol Cytogenet. 2019 Jul 5;12:32. doi: 10.1186/s13039-019-0445-1. eCollection 2019.
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.
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.
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.
急性早幼粒细胞白血病（APL）的特征是由于t(15;17)(q24;q21)导致PML/RARα基因融合。由于基于全反式维甲酸（ATRA）和三氧化二砷（ATX）的分子靶向治疗，APL现在是可治愈的血液系统恶性肿瘤之一。髓外（EM）复发在APL中是罕见事件，耳部受累更为罕见，迄今为止仅报道过6例。约30%-35%新诊断的APL患者存在其他细胞遗传学异常，其预后意义仍存在争议。最常见的额外畸变是8号染色体三体或8q部分增益。
我们在此描述一名41岁男性，患有APL，一线治疗后处于分子缓解期，发生了耳道的反应性EM复发，其存在一种新的不平衡易位der(3)t(3;8)(q29;q23.3-q24.3)，伴有8q部分增益。
EM复发在APL中是罕见事件，耳部受累更为罕见。据我们所知，这是首例报道的伴有新的der(3)t(3;8)(q29;q23.3-q24.3)和与t(15;17)(q24;q21)相关的8q部分增益的APL病例。尽管该疾病在EM水平复发，但该患者的临床结局良好。
