新诊断浆细胞骨髓瘤风险分层中传统核型、间期荧光原位杂交与免疫表型之间的相关性：一项观察性研究
Correlation between conventional karyotype, interphase FISH and immunophenotype in risk stratification of newly diagnosed plasma cell myeloma: An observational study.
作者信息
Singhal Paresh, Kaur Gurpreet, Mutreja Deepti, Sen Arijit, Bhatia J K
机构信息
Associate Professor (Lab Sciences & Molecular Medicine), Army Hospital (R&R), Delhi Cantt, India.
Associate Professor, Department of Pathology, Armed Forces Medical College, Pune, India.
出版信息
Med J Armed Forces India. 2024 Dec;80(Suppl 1):S192-S203. doi: 10.1016/j.mjafi.2023.05.001. Epub 2023 Jun 27.
BACKGROUND
Plasma cell myeloma (PCM) is a common adult hematological neoplasm of terminally differentiated B-cells resulting in accumulation of monoclonal plasma cells. PCM is heterogeneous disease with survival time varies from months to years, determined by age, stage, cytogenetics abnormalities, and treatment response. There is conflicting evidence in role of immunophenotype as a prognostic indicator. This study identified frequency of cytogenetics abnormalities and established correlation between cytogenetics and immunophenotyping in risk stratification in newly diagnosed PCM.
METHODS
Pilot study was undertaken on 30 newly diagnosed PCM over 4 years. Apart from extensive myeloma laboratory and imaging profile, multicolor flow cytometry using panel of CD138, CD38, CD45, CD56, CD19, CD20, CD28, CD200, CD117, κ, and λ light-chains. Karyotyping was done using GTG banding and interphase fluorescence in situ hybridization analysis on magnetically sorted plasma cells for t(4;14), t(11;14), del(13)q, and del(17)p probes.
RESULTS
Of 30 myeloma patients, 16(53.3%) were men with mean age 57.23 ± 11.90 years. The del(13)q was commonest cytogenetics abnormality. CD56-positive cases were strongly associated with presence of del(17)p and stage III of disease (p < 0.05). Negative expression of CD117 was seen in advanced stage of disease and high-risk genetic factor, t(4;14) (p = 0.049). Absent CD28 expression was associated with higher albumin levels, lower levels of β2MG, and lack of high-risk genetic abnormalities. Advanced clinical stages were associated with expression of CD56, CD28, and absent expression of CD45 and CD117.
CONCLUSION
Immunophenotypic antigens positive and negative expressions are associated with high-risk genetic abnormalities and advanced clinical stages of PCM.
INSTITUTION ETHIC COMMITTEE REFERENCE NUMBER
IEC/2017/230, AFMC, Pune.
背景
浆细胞骨髓瘤（PCM）是一种常见的成人血液系统肿瘤，由终末分化的B细胞产生，导致单克隆浆细胞积聚。PCM是一种异质性疾病，生存时间从数月到数年不等，取决于年龄、分期、细胞遗传学异常和治疗反应。关于免疫表型作为预后指标的作用，证据存在冲突。本研究确定了新诊断PCM患者细胞遗传学异常的频率，并在风险分层中建立了细胞遗传学与免疫表型之间的相关性。
方法
在4年期间对30例新诊断的PCM患者进行了初步研究。除了广泛的骨髓瘤实验室和影像学检查外，还使用CD138、CD38、CD45、CD56、CD19、CD20、CD28、CD200、CD117、κ和λ轻链进行多色流式细胞术检测。使用GTG显带法进行核型分析，并对磁珠分选的浆细胞进行间期荧光原位杂交分析，检测t(4;14)、t(11;14)、del(13)q和del(17)p探针。
结果
30例骨髓瘤患者中，16例（53.3%）为男性，平均年龄57.23±11.90岁。del(13)q是最常见的细胞遗传学异常。CD56阳性病例与del(17)p的存在和疾病III期密切相关（p<0.05）。在疾病晚期和高危遗传因素t(4;14)中可见CD117阴性表达（p=0.049）。CD28表达缺失与较高的白蛋白水平、较低的β2微球蛋白水平以及缺乏高危遗传异常有关。临床晚期与CD56、CD28的表达以及CD45和CD117的缺失表达有关。
结论
免疫表型抗原的阳性和阴性表达与PCM患者的高危遗传异常和临床晚期有关。
机构伦理委员会参考编号
IEC/2017/230，浦那武装部队医学院。
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