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急性淋巴细胞白血病和 EGFR 突变肺腺癌同步重叠 1 例:一种 TKI 药物能否解决两种疾病?

A case of Ph acute lymphoblastic leukemia and EGFR mutant lung adenocarcinoma synchronous overlap: may one TKI drug solve two diseases?

机构信息

Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.

Department of Respiratory Disease, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.

出版信息

BMC Med Genomics. 2024 Jul 8;17(1):182. doi: 10.1186/s12920-024-01955-y.

Abstract

BACKGROUND

Philadelphia chromosome positive (Ph) acute lymphoblastic leukemia (ALL) refers to ALL patients with t(9;22) cytogenetic abnormalities, accounting for about 25% of ALL. Lung adenocarcinoma (LUAD) is the most common pathological type of non-small-cell lung cancer, which has a frequency of approximately 45% cases with mutations in EGFR. Both Ph ALL and EGFR mutant LUAD are involved in the pathogenesis of the abnormal activation of the tyrosine kinase pathway. Although the second primary hematological malignancy after the treatment of solid tumors is common in clinics, the synchronous multiple primary malignant tumors of hematological malignancy overlap solid tumors are uncommon, even both tumors involved in the pathogenesis of the abnormal activation of the tyrosine kinase pathway are extremely rare.

CASE PRESENTATION

An 84-year-old man with fatigue and dizziness was diagnosed with Ph ALL. Meanwhile, a chest CT indicated a space-occupying lesions, characterized by the presence of void, in the right lower lope with the enlargement of mediastinal lymph node and right pleural effusion. After a few weeks, the patient was diagnosed with LUAD with EGFR exon 19 mutation. Both tyrosine kinase inhibitors (TKI) (Flumatinib) and EGFR-TKI (Oxertinib) was used for the patients, and finally have controlled both diseases.

CONCLUSION

As far as we know, we for the first time reported a case of Ph ALL and EGFR mutant LUAD synchronous overlap, of which pathogenesis is related to abnormal tyrosine kinase activation. This patient was successfully treated with two different TKIs without serious adverse events.

摘要

背景

费城染色体阳性(Ph)急性淋巴细胞白血病(ALL)是指 ALL 患者存在 t(9;22)细胞遗传学异常,约占 ALL 的 25%。肺腺癌(LUAD)是非小细胞肺癌中最常见的病理类型,约有 45%的病例存在 EGFR 基因突变。Ph ALL 和 EGFR 突变型 LUAD 均涉及酪氨酸激酶途径异常激活的发病机制。尽管实体瘤治疗后发生第二原发性血液恶性肿瘤在临床上很常见,但血液恶性肿瘤重叠实体瘤的同步多发性原发性恶性肿瘤并不常见,甚至两种肿瘤均涉及酪氨酸激酶途径异常激活的发病机制极为罕见。

病例介绍

一名 84 岁男性因疲劳和头晕被诊断为 Ph ALL。同时,胸部 CT 显示右下肺叶有空腔占位病变,纵隔淋巴结肿大,右侧胸腔积液。几周后,患者被诊断为 EGFR 外显子 19 突变型 LUAD。患者接受了两种酪氨酸激酶抑制剂(TKI)(Flumatinib)和 EGFR-TKI(Oxertinib)治疗,最终两种疾病均得到控制。

结论

据我们所知,我们首次报道了一例 Ph ALL 和 EGFR 突变型 LUAD 同步重叠的病例,其发病机制与异常的酪氨酸激酶激活有关。该患者使用两种不同的 TKI 治疗取得了成功,且无严重不良事件发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b191/11232208/8e9ad1407867/12920_2024_1955_Fig1_HTML.jpg

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