一例 Ph+ 急性淋巴细胞白血病和表皮生长因子受体突变型肺腺癌同步重叠病例:一种 TKI 药物能否解决两种疾病?

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2024-07-08 DOI:10.1186/s12920-024-01955-y
Qi Zhang, Jing-Dong Zhou, Hao Ding, Lei Yang, Chao Lu, Ming-Qiang Chu, Jun Qian, Ting-Juan Zhang
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引用次数: 0

摘要

背景:费城染色体阳性(Ph+)急性淋巴细胞白血病(ALL)是指具有t(9;22)细胞遗传学异常的ALL患者,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,表皮生长因子受体(EGFR)发生突变的病例约占45%。Ph+ ALL和表皮生长因子受体(EGFR)突变的LUAD都涉及酪氨酸激酶通路异常激活的发病机制。虽然实体瘤治疗后的第二原发性血液恶性肿瘤在临床上很常见,但血液恶性肿瘤与实体瘤重叠的同步多原发性恶性肿瘤并不多见,甚至两种肿瘤均参与酪氨酸激酶通路异常激活的发病机制也极为罕见:一名 84 岁的男性患者因乏力和头晕被诊断为 Ph+ ALL。同时,胸部 CT 显示患者右下腹出现以空洞为特征的占位性病变,并伴有纵隔淋巴结肿大和右胸腔积液。几周后,患者被诊断为表皮生长因子受体 19 外显子突变的 LUAD。患者同时使用了酪氨酸激酶抑制剂(TKI)(氟马替尼)和表皮生长因子受体-TKI(奥克替尼),最终两种疾病都得到了控制:据我们所知,我们首次报道了一例 Ph+ ALL 和表皮生长因子受体突变型 LUAD 同步重叠病例,其发病机制与酪氨酸激酶异常激活有关。该患者成功接受了两种不同的TKIs治疗,未出现严重不良反应。
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A case of Ph+ acute lymphoblastic leukemia and EGFR mutant lung adenocarcinoma synchronous overlap: may one TKI drug solve two diseases?

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.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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