Heterogeneous distribution of EGFR mutation in NSCLC: Case report

被引：0

作者：

Boukansa, Sara ^{[1
,2
]}

Benbrahim, Zineb ^{[3
]}

Gamrani, Sanaa ^{[1
,2
]}

Mouhrach, Ismail ^{[4
]}

El Agy, Fatima ^{[1
,2
]}

El Bardai, Sanae ^{[2
]}

Bouguenouch, Laila ^{[4
]}

Serraj, Mounia ^{[5
]}

Amara, Bouchra ^{[5
]}

Ouadnouni, Yassine ^{[6
]}

Smahi, Mohamed ^{[6
]}

Alami, Badreeddine ^{[7
]}

Mellas, Nawfel ^{[3
]}

El Fatemi, Hinde ^{[1
,2
]}

机构：

[1] Sidi Mohamed Ben Abdellah Univ, Fac Med & Pharm, Lab Biomed & Translat Res, Fes, Morocco

[2] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Lab Anat Pathol & Mol Pathol, Fes, Morocco

[3] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Dept Oncol, Fes, Morocco

[4] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Unit Med Genet & Oncogenet, Fes, Morocco

[5] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Dept Pneumol, Fes, Morocco

[6] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Dept Thorac Surg, Fes, Morocco

[7] Sidi Mohamed Ben Abdellah Univ, Univ Hosp Hassan II, Dept Radiol, Fes, Morocco

来源：

RESPIRATORY MEDICINE CASE REPORTS | 2023年 / 44卷

关键词：

EGFR mutation; S768I; intratumoral heterogeneity; Real Time PCR; Pyrosequencing; CELL LUNG-CANCER; INTRATUMOR HETEROGENEITY; GEFITINIB; RARE; ADENOCARCINOMA; PATIENT;

D O I：

10.1016/j.rmcr.2023.101871

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Background: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation. Case report: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. The present report describes a case of minor histologic intratumoral heterogeneity with heterogeneous distribution of EGFR mutation. Conclusion: Both sensitivity and specificity of molecular methods can provide evidence of intratumoral heterogeneity, which may explain the mismatch between the validation of oncology biomarkers and predicting therapeutic response to targeted therapy.

引用

页数：4

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