在有症状的瓦尔登斯特伦巨球蛋白血症患者中通过染色体带分析检测到的染色体畸变的影响。

IF 3 3区 医学 Q2 HEMATOLOGY Annals of Hematology Pub Date : 2024-10-16 DOI:10.1007/s00277-024-06041-y
Kenichi Ito, Tomoko Kitagawa, Kunihiko Harada, Kazuhiko Hirano, Naohiro Sekiguchi
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引用次数: 0

摘要

MYD88 L265P(MYDL265P)和CXCR4突变(CXCR4Mut)的临床病理特征和对预后的影响已有大量报道,但通过染色体条带分析(CBA)发现的染色体畸变(CA)对无症状瓦尔登斯特伦巨球蛋白血症(sWM)的影响却鲜为人知。因此,我们研究了经 CBA 鉴定出 CA 的 sWM 的临床病理特征及其对预后的影响。我们通过液滴数字 PCR、荧光原位杂交(FISH)和使用 G 带法的 CBA,回顾性分析了 2010 年 4 月至 2024 年 3 月期间在我院收集的 sWM 患者骨髓样本的临床病理结果和基因组改变。评估了CAs与临床病理特征之间的关系以及下一次治疗的时间(TTNT)。共有 35 名患者入组。中位年龄为 71 岁,中位血红蛋白水平为 10.1 g/dL。血清 IgM 和 M 蛋白水平的中位数分别为 3,009 mg/dL 和 2.95 g/dL。在 30/35 例患者中发现了 MYDL265P(85.7%),而在 3/35 例患者中发现了 CXCR4Mut(8.6%)。5/18 例患者(28%)通过 FISH 鉴定出 6q 缺失,9/34 例患者(26%)通过 CBA 鉴定出 CAs,其中 4/34 例(12%)为复杂核型。中位随访时间为 73 个月,有 CA 和无 CA 患者的中位 TTNT 分别为 27 个月和 68 个月。带有CBA的CA可能与sWM的临床侵袭性和较短的TTNT有关。
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Impact of chromosomal aberrations detected by chromosome banding analysis in symptomatic Waldenström's macroglobulinemia.

The clinicopathologic features and prognostic impact of MYD88 L265P (MYDL265P) and CXCR4 mutations (CXCR4Mut) have been well reported, although little is known regarding the impact of chromosomal aberrations (CA) detected by chromosome banding analysis (CBA) in symptomatic Waldenström's macroglobulinemia (sWM). Thus, we investigated the clinicopathologic features and prognostic impact in sWM with CAs identified by CBA. We retrospectively analyzed the clinicopathologic results and genomic alterations by droplet digital PCR, fluorescence in situ hybridization (FISH), and CBA using the G-banding method in bone marrow samples from sWM patients collected between April 2010 and March 2024 at our institute. The relationship between CAs and clinicopathologic features was evaluated, as well as the time to next treatment (TTNT). Thirty-five patients were enrolled. The median age was 71 years, and the median hemoglobin level was 10.1 g/dL. The median serum IgM and M-protein levels were 3,009 mg/dL and 2.95 g/dL, respectively. MYDL265P was found in 30/35 patients (85.7%), whereas CXCR4Mut was found in 3/35 patients (8.6%). Deletion 6q identified by FISH in 5/18 patients (28%), and CAs using CBA in 9/34 patients (26%), including 4/34 (12%) complex karyotypes. sWM with CAs had more anemia (p = 0.04) and hypoalbuminemia (p = 0.007), in addition to higher serum M-protein and IgM levels (p = 0.03). With a median follow-up of 73 months, the median TTNT in patients with and without CAs was 27 and 68 months, respectively. CAs with CBA may be associated with clinical aggressiveness and shorter TTNT in sWM.

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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
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