An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report

Journal of Medical Case Reports

Juan C. Baena¹  Juan C. Falla-Martinez¹  Angela R. Zambrano¹  Lisa X. Rodriguez²  Daniela Espinosa³  Luz F. Sua⁴ 

[1] grid.477264.4, Hematology-Oncology department, Fundacion Valle del Lili, Carrera 98 No. 18-49, Fundacion Valle del Lili, Cali, Colombia;grid.477264.4, Human Genetics department, Fundacion Valle del Lili, Carrera 98 No. 18-49, Cali, Colombia;grid.477264.4, Internal Medicine department, Fundacion Valle del Lili, Carrera 98 No. 18-49, Cali, Colombia;grid.477264.4, Pathology department, Fundacion Valle del Lili, Carrera 98 No. 18-49, Cali, Colombia;

关键词: Lung neoplasms;    EGFR protein;    Adenocarcinoma of the lung;    Compound mutation;   

DOI  :  10.1186/s13256-019-2075-y

来源: publisher

【 摘 要 】

BackgroundEndothelial growth factor receptor (EGFR) mutations are an essential driver of personalized therapy for patients with lung cancer and are detected in approximately 15% of Caucasian and 50% of Asian patients. EGFR tyrosine kinase inhibitors have been developed and used for this set of patients. T790M mutation in exon 20 is usually associated with secondary resistance to EGFR tyrosine kinase inhibitors therapy but is also present in treatment-naïve patients. The frequency for baseline T790M mutation varies from 4 to 35% according to the detection method used. Newer techniques have yielded higher rates, but concerns about false-positive results have been raised. Compound mutations account for 4–14% of all EGFR-mutated tumors, with no studies yet to provide a frequency rate for T790M + 19 deletion association due to the small number of cases. However, there are reports that pretreatment T790M + L858R association is significantly more frequent compared to T790M + exon 19 deletion mutations. Diagnostic challenges, current knowledge on the subject, and therapeutic decisions are discussed.Case presentationWe present the case of a 43-year-old Hispanic woman, a treatment-naïve patient, with metastasized lung cancer adenocarcinoma harboring a T790M deletion along with the classic 19 mutation. The initial symptoms were monoparesis of her left leg, associated with hyperreflexia, and hypoesthesia. In the absence of third-generation tyrosine kinase inhibitors, a platinum-based therapy was initiated with no response and she died 4 months after diagnosis.ConclusionsOsimertinib seems to be a suitable therapy for treatment-naïve patients with sensitizing and resistant compound EGFR mutations. More studies regarding the clinical characteristics of these patients and the appropriate management of this condition are needed to provide the highest standard of care.

【 授权许可】

CC BY