1例伴衍生染色体3 der(3)t(3;8)及8q部分获得的急性早幼粒细胞白血病变异型病例。
A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain.
作者信息
Nozza Filomena, Vona Gabriella, Trino Stefania, D'Auria Fiorella, La Rocca Francesco, Grieco Vitina, Possidente Luciana, De Luca Luciana, Musto Pellegrino
机构信息
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.
出版信息
Mol Cytogenet. 2019 Jul 5;12:32. doi: 10.1186/s13039-019-0445-1. eCollection 2019.
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.
背景
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。
病例报告
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。
结论
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。
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