期刊
BMC MEDICAL GENOMICS
卷 14, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12920-021-01147-y
关键词
Myelodysplastic syndromes; Non-small cell lung cancer; Next-generation sequencing; Copy number variations; Case report
This case report describes a non-small cell lung cancer (NSCLC) patient who developed secondary myelodysplastic syndrome (MDS) due to long-term exposure to chemicals, diagnosed through next-generation sequencing (NGS) analysis. The NGS analysis may serve as supplementary for the diagnosis of secondary MDS and provide useful information for treatment.
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.
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