Detection of EGFR Mutation of Pulmonary Adenocarcinoma in Sputum using Droplet Digital PCR

Abstract Background】It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected accurately on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer. 【Methods】Sputum was collected preoperatively from patients with primary lung cancer who were scheduled for complete resection of lung tumor at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21 mutation) and EGFR exon 19 deletion mutation (Ex19 mutation) in the sputum samples. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group.【Results】One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 mutation and two cases of Ex19 mutation. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation detection were 80.0%, 100%, and 92.3%, respectively. The sensitivity of EGFR mutation detection was 3.1% in sputum cytology negative cases. Logistic regression model analysis revealed that tumor size ≥ 29 mm determined using computed tomography (CT) was an independent potential predictive factor for positive sputum cytology (odds ratio = 10.6, 95% confidence interval: 1.85–61.0, p=0.008).【Conclusions】EGFR mutation of primary lung adenocarcinoma was accurately detected in sputum samples using ddPCR if the sputum cytology was positive. Sputum samples should be collected in patients with CT tumor size ≥ 29 mm for EGFR mutation analysis.

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Detection of EGFR Mutation of Pulmonary Adenocarcinoma in Sputum Using Droplet Digital PCR

10.21203/rs.3.rs-114911/v1 ◽

2020 ◽

Author(s):

Tetsuya Isaka ◽

Tomoyuki Yokose ◽

Hiroyuki Ito ◽

Haruhiko Nakayama ◽

Yohei Miyagi ◽

...

Keyword(s):

Lung Cancer ◽

Lung Adenocarcinoma ◽

Tumor Size ◽

Mutation Detection ◽

Egfr Mutation ◽

Lung Tumor ◽

Primary Lung Cancer ◽

Resected Specimen ◽

Sputum Cytology ◽

Primary Lung Adenocarcinoma

Abstract Background It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected accurately on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer. Methods Sputum was collected preoperatively from patients with primary lung cancer who were scheduled for complete resection of lung tumor at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21 mutation) and EGFR exon 19 deletion mutation (Ex19 mutation) in the sputum samples. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group.Results One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 mutation and two cases of Ex19 mutation. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation detection were 80.0%, 100%, and 92.3%, respectively. The sensitivity of EGFR mutation detection was 3.1% in sputum cytology negative cases. Logistic regression model analysis revealed that tumor size ≥ 29 mm determined using computed tomography (CT) was an independent potential predictive factor for positive sputum cytology (odds ratio = 10.6, 95% confidence interval: 1.85–61.0, p=0.008).Conclusions EGFR mutation of primary lung adenocarcinoma was accurately detected in sputum samples using ddPCR if the sputum cytology was positive. Sputum samples should be collected in patients with CT tumor size ≥ 29 mm for EGFR mutation analysis.

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Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01468-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Tetsuya Isaka ◽

Tomoyuki Yokose ◽

Hiroyuki Ito ◽

Haruhiko Nakayama ◽

Yohei Miyagi ◽

...

Keyword(s):

Lung Cancer ◽

Positive Predictive Value ◽

Lung Adenocarcinoma ◽

Predictive Value ◽

Egfr Mutation ◽

Egfr Mutations ◽

Resected Specimen ◽

Sputum Cytology ◽

Primary Lung Adenocarcinoma ◽

Sensitivity Specificity

Abstract Background It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer. Methods Sputum was prospectively collected from the patients before complete resection of the primary lung cancer at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21) and EGFR exon 19 deletion mutation (Ex19) in sputum samples from patients with lung adenocarcinoma. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group. Results One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 and two cases of Ex19 in sputum cytology positive cases. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 80.0%, 100%, and 100%, respectively, in sputum cytology positive cases. In contrast, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 3.1%, 100%, and 100%, respectively, in sputum cytology negative cases. Conclusions EGFR mutations in primary lung adenocarcinoma can be detected with high sensitivity in sputum samples if sputum cytology is positive.

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Metachronous Isolated Contralateral Lung Metastasis from Pulmonary Adenosquamous Carcinoma with EGFR Mutation

Acta Medica (Hradec Kralove Czech Republic) ◽

10.14712/18059694.2020.33 ◽

2020 ◽

Vol 63 (3) ◽

pp. 141-144

Author(s):

Hitomi Kawai ◽

Kesato Iguchi ◽

Norio Takayashiki ◽

Shinichiro Okauchi ◽

Hiroaki Satoh

Keyword(s):

Lung Metastasis ◽

Egfr Mutation ◽

Adenosquamous Carcinoma ◽

Lung Tumor ◽

Lung Nodule ◽

Left Lung ◽

Primary Lung Cancer ◽

Pathological Examination ◽

Resected Specimen ◽

Contralateral Lung

Lung metastasis and metachronous double primary lung cancer are both common and often present diagnostic challenges. We present a case of metachronous isolated contralateral lung metastasis from pulmonary adenosquamous carcinoma with EGFR mutation. A 75-yearold woman presented with left lung nodule on a routine follow-up chest radiograph. She had had surgery for pulmonary adenocarcinoma with EGFR Ex21 L858R mutation 6 years ago. She underwent surgical resection, and histologic findings revealed adenosquamous carcinoma with the same EGFR mutation. Re-assessment of the resected specimen of the primary tumor resected 6 years ago revealed the morphologically similarity to the left lung tumor. Based on morphological and genetic identity, final diagnosis was adenosquamous cell carcinoma and metachronous isolated contralateral lung metastasis. The diagnosis of metachronous isolated metastasis is difficult but important for appropriate management and prediction of prognosis. A careful pathological examination and evaluation of genetic abnormality are needed to make the correct diagnosis.

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Diagnosis and management of a metastatic mixed gestational trophoblastic neoplasia with synchronous primary lung cancer

BMJ Case Reports ◽

10.1136/bcr-2020-240606 ◽

2021 ◽

Vol 14 (5) ◽

pp. e240606

Author(s):

Varun Iyengar ◽

Hetal Mistry ◽

Catherine Hibbitt ◽

Alexei Shimanovsky

Keyword(s):

Lung Cancer ◽

Lung Adenocarcinoma ◽

Combination Chemotherapy ◽

Primary Lung Cancer ◽

Pulmonary Nodules ◽

Holistic Care ◽

Gestational Trophoblastic Neoplasia ◽

Primary Lung Adenocarcinoma ◽

Rare Tumours

Mixed gestational trophoblastic neoplasias (GTNs) are rare placental tumours that arise from abnormal fertilisation events. To date, only 34 patients with mixed GTNs have been reported in the literature. As such, the management of such cases remains challenging. This report presents a case of a mixed GTN that was further complicated by a synchronous primary lung adenocarcinoma. Our patient was initially treated with hysterectomy, with surveillance labwork showing persistence of her malignancy. She then began combination chemotherapy, at the end of which she appeared to be in remission clinically. Unfortunately, subsequent imaging showed the persistence of pulmonary nodules that were ultimately resected, demonstrating a new primary lung adenocarcinoma. At present, she remains free of both cancers 2 years after her initial diagnosis. The complexity of this case underscores the importance of patient-centred treatment for rare tumours and the role of a multidisciplinary team in the effort to provide holistic care.

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Secondary Primary Lung Cancer After Esophageal Cancer: A Population-Based Study of 44,172 Patients

10.21203/rs.3.rs-37461/v1 ◽

2020 ◽

Author(s):

Yadong Gao ◽

Jianwei Qiu ◽

Liugen Gu ◽

Yanmei Yang ◽

Haifeng Kang ◽

...

Keyword(s):

Lung Cancer ◽

Overall Survival ◽

Esophageal Cancer ◽

Lung Adenocarcinoma ◽

Primary Lung Cancer ◽

Squamous Carcinoma ◽

Primary Lung Adenocarcinoma ◽

Significant Difference ◽

History Of ◽

Lung Squamous Carcinoma

Abstract Background: The present study aimed to assess the incidence, characteristics, and survival of secondary primary lung cancer after primary esophageal cancer (EC-LC). Methods: The patients with esophageal cancer (EC) who developed SPLC and patients with first primary lung cancer (LC-1) were retrospectively reviewed in the Surveillance, Epidemiology, and End Results 18 registries covering 2000 to 2016. The risk of secondary primary lung cancer using standardized incidence ratio (SIR) was calculated among patients with EC. Overall survival and characteristics were compared between patients with EC-LC and patients with LC-1.Results: In comparison with the general population, the patients with EC had a higher risk for developing secondary primary lung cancer (SIR =1.86, 95% confidence interval (CI): 1.69-2.05). There was a significant difference with regard to the year of diagnosis, sex, grade and stage between the secondary primary lung squamous carcinoma after EC (EC-LUSC) and first primary lung squamous carcinoma (LUSC-1) patients. A statistically significant difference with respect to race, sex, age, year, grade and stage was found between the secondary primary lung adenocarcinoma after EC (EC-LUAD) and first primary lung adenocarcinoma (LUAD-1) patients. A history of EC was found to be an independent risk factor of death for lung squamous carcinoma and lung adenocarcinoma patients in localized stage based on multivariate Cox regression analysis, propensity score-matching analysis and multiple imputation.Conclusion: There is a significantly increased risk of secondary primary lung cancer in EC survivors and a history of EC adversely affects overall survival in individuals who subsequently develop localized EC-LUSC and EC-LUAD. Clinicians should moderately strengthen lung tissue protection during the management of EC patients.

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