非典型慢性髓性白血病中的突变：两例报告

mutations in atypical chronic myeloid leukemia: a report of two cases.

作者信息

Iaquinta Giovanni, Scalzulli Emilia, Angeloni Silvia, Carmosino Ida, Costa Alessandro, Ielo Claudia, Passucci Mauro, Masucci Chiara, Martelli Maurizio, Grammatico Paola, Breccia Massimo

机构信息

U.O.C. Medical Genetics Laboratory, Department of Experimental Medicine, San Camillo-Forlanini Hospital - Sapienza University, Rome, Italy.

Department of Translational and Precision Medicine, Az. Policlinico Umberto I-Sapienza University, Rome, Italy.

出版信息

Leuk Lymphoma. 2023 Oct;64(10):1730-1732. doi: 10.1080/10428194.2023.2232495. Epub 2023 Jul 12.

DOI:10.1080/10428194.2023.2232495

PMID:37435984

Abstract

Atypical chronic myeloid leukemia (aCML) is a rare MDS/MPN disease characterized by the absence of BCR::ABL1 rearrangement and well known typical mutations associated with myeloproliferative disorders. Mutational landscape associated with this disease was recently described with frequent involvement of SETBP1 and ETNK1 mutations. CCND2 mutations have not been frequently detected in MPN or MDS/MPN patients. We describe two cases of aCML with two CCND2 mutations in 280 and 281 codons which rapidly develop progressive characteristics, and we reviewed the literature about this unfavorable association, suggesting a role as a new possible marker of aggressive disease.

摘要

非典型慢性髓性白血病（aCML）是一种罕见的骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN）疾病，其特征是不存在BCR::ABL1重排以及与骨髓增殖性疾病相关的众所周知的典型突变。最近描述了与该疾病相关的突变图谱，其中SETBP1和ETNK1突变频繁出现。CCND2突变在MPN或MDS/MPN患者中尚未被频繁检测到。我们描述了2例aCML病例，其CCND2基因的280和281密码子发生突变，疾病迅速呈现进展性特征，并且我们回顾了关于这种不良关联的文献，提示其可能作为侵袭性疾病的一种新的潜在标志物。