核型为 5q- 的非加速性 MDS/MPN-U 患者的临床特征和诊断。

IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2024-10-01 DOI:10.7754/Clin.Lab.2024.240506
Ling Xu, Ruimin Li, Pengcheng Yang
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引用次数: 0

摘要

研究背景该研究旨在提高对5q核型非加速性骨髓增生异常/骨髓增生性肿瘤(MDS/MPN-U)的临床认知,避免误诊或延误诊断:方法:分析一名5q核型非加速性MDS/MPN-U患者的临床表现和实验室结果,并回顾相关文献:患者主要因胸闷、气短入院,病情加重4天。入院后,结合临床表现、骨髓细胞形态学、免疫学、多参数流式细胞术、细胞遗传学和分子生物学等,最终诊断为MDS-MPN-U:结论:MPN-U与5q缺失MDS之间的相关性仍有待研究。在临床上,MPN-U 合并 MDS 容易被误诊。在诊断 MPN-U 患者时,不仅要完成常规和免疫学检查,还要考虑临床表现和实验室结果。关键是要警惕并发疾病尤其是癌症的可能性,及时选择有针对性的检查,避免漏诊或误诊。
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Clinical Characteristics and Diagnosis of Nonaccelerating MDS/MPN-U Patient with 5q- Karyotype.

Background: The aim of the study was to improve the clinical cognition of nonaccelerating myelodysplastic/myeloproliferative neoplasms-unclassifiable (MDS/MPN-U) with 5q- karyotype and to avoid misdiagnosis or delayed diagnosis.

Methods: The clinical manifestations and laboratory results of a patient with nonaccelerating MDS/MPN-U with 5q- karyotype were analyzed, and related literature was reviewed.

Results: The patient was admitted to hospital mainly due to chest tightness and shortness of breath, aggravated for 4 days. After admission, combined with clinical manifestations, bone marrow cell morphology, immunology, multiparameter flow cytometry, cytogenetics and molecular biology, etc., the final diagnosis was MDS-MPN-U.

Conclusions: Research on the correlation between MPN-U and MDS with 5q deletion is still needed. Clinically, MPN-U combined with MDS is prone to misdiagnosis. In diagnosing MPN-U patients, it is essential to not only complete routine and immunological tests but also consider clinical manifestations and laboratory results. It is crucial to be vigilant about the possibility of concurrent diseases, especially cancer, and to choose targeted examinations in a timely manner to avoid missed or incorrect diagnoses.

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来源期刊
Clinical laboratory
Clinical laboratory 医学-医学实验技术
CiteScore
1.50
自引率
0.00%
发文量
494
审稿时长
3 months
期刊介绍: Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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