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二代测序发现的非小细胞肺癌患者继发骨髓增生异常综合征。

Secondary myelodysplastic syndromes identified via next-generation sequencing in a non-small cell lung cancer patient.

机构信息

The First Hospital of Jiaxing, Jiaxing, China.

Shaoxing People's Hospital, Shaoxing, China.

出版信息

BMC Med Genomics. 2021 Dec 20;14(1):299. doi: 10.1186/s12920-021-01147-y.

Abstract

BACKGROUND

Myelodysplastic syndrome (MDS) is a group of clonal disorders characterized by ineffective and dysplastic hematopoiesis in the bone marrow with a high risk of progression to leukemia. Many studies have demonstrated that chemo-radiotherapy for cancer patients and exposure to certain chemicals may increase the risk of secondary MDS, which is characterized by specific chromosomal abnormalities and genomic alterations. Since next-generation sequencing (NGS) has been widely used for the diagnosis of cancer patients, advanced analysis of the sequencing data may provide supplementary information for secondary MDS.

CASE PRESENTATION

A male patient with non-small cell lung cancer (NSCLC) and bone metastases has presented distal obstructive inflammation, the enlargement of the left hilar, mediastinal lymph node metastases, and multiple bone metastases. This patient has undergone long-term exposures to certain chemicals. Moreover, the deletion of chromosome 7 and 5q is detected in his peripheral blood sequencing, indicating secondary MDS, subsequently confirmed by bone marrow examination.

CONCLUSION

In this case, an NSCLC patient was diagnosed with secondary MDS via NGS analysis, indicating that the NGS analysis may serve as supplementary for diagnosis of secondary MDS and provide useful information of therapeutic regimens for subsequent-line treatment of EGFR-mutated lung cancer. To the best of our knowledge, this is the first report of acquired MDS in a lung adenocarcinoma patient.

摘要

背景

骨髓增生异常综合征(MDS)是一组克隆性疾病,其特征为骨髓中无效造血和病态造血,具有向白血病转化的高风险。许多研究表明,癌症患者的化疗和放疗以及接触某些化学物质可能会增加继发性 MDS 的风险,其特征为特定的染色体异常和基因组改变。由于下一代测序(NGS)已广泛用于癌症患者的诊断,对测序数据的高级分析可能为继发性 MDS 提供补充信息。

病例介绍

一名患有非小细胞肺癌(NSCLC)和骨转移的男性患者出现远端阻塞性炎症、左肺门增大、纵隔淋巴结转移和多处骨转移。该患者长期接触某些化学物质。此外,其外周血测序中检测到 7 号和 5q 染色体缺失,提示继发性 MDS,随后通过骨髓检查得到证实。

结论

在本例中,通过 NGS 分析诊断出 NSCLC 患者患有继发性 MDS,表明 NGS 分析可能有助于继发性 MDS 的诊断,并为后续 EGFR 突变型肺癌的治疗方案提供有用信息。据我们所知,这是首例肺腺癌患者获得性 MDS 的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/954a/8691080/9256d062fd12/12920_2021_1147_Fig1_HTML.jpg

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