Objective This study aimed to analyze the relationship between the mutations in epidermal growth factor receptor(EGFR)and anaplastic lymphoma kinase(ALK)and their impact on the prognosis and treatment of lung adenocar...Objective This study aimed to analyze the relationship between the mutations in epidermal growth factor receptor(EGFR)and anaplastic lymphoma kinase(ALK)and their impact on the prognosis and treatment of lung adenocarcinoma.Methods A total of 158 cases of lung adenocarcinoma reported between January 2007 and January 2014 were retrospectively analyzed.These tumors were resected using radical pneumonectomy and underwent pathology-based diagnosis at our institution(Inner Mongolia People’s Hospital,Hohhot,China).The tissue sections were evaluated using the updated World Health Organization classification of lung adenocarcinomas(2015 version),with each histological component recorded in 5%increments.The histological subtypes were classified,and any surviving cases were followed up.The reverse transcription-polymerase chain reaction(RT-PCR)and direct DNA sequencing were used to evaluate mutations in exons 18,19,20,and 21 in the EGFR gene,and the echinoderm microtubule-associated protein-like 4 gene-ALK variant(EML4-ALK)fusions were detected using sequencing.Results Our cohort included 25 patients with pre-invasive adenocarcinoma,13 patients with lepidic,66 patients with acinar,13 patients with papillary,and 25 patients with solid infiltrative adenocarcinoma with the remaining cases presenting with a variety of pathological subtypes.The prognosis of each histological subtype was different with the 5-year disease-free survival and 5-year overall survival(OS)of pre-invasion adenocarcinoma at 100%;the 5-year OS of lepidic,acinar,and papillary adenocarcinoma patients was only 84.6%,72.7%,and 76.9%,respectively.The 5-year OS of solid and mucinous adenocarcinomas were 32.0%and 36.4%,respectively.EGFR mutation was detected in 69 cases with a mutation rate of 43.7%and majority of these mutations were found in exons 19(50.6%)and 21(37.9%),with women and non-smokers shown to experience a higher mutation rate(P<0.05).However,histological subtype analysis showed that EGFR mutations were primarily found in adenocarcinomas.Most of these mutations were found in lepidic(53.8%)or acinar adenocarcinomas(50.0%),whereas these mutations were rare in both solid(28.0%)and mucinous adenocarcinoma(27.2%).The fusion mutation rate in the EML4-ALK gene was 5.69%,and was most common in young,nonsmoking patients(P<0.05).Conclusion The prognosis of patients in each lung adenocarcinoma subtype is different,and these outcomes are likely related to mutations in the EGFR and EML4-ALK genes.EGFR mutation rates are higher in lepidic and acinar adenocarcinomas,whereas EML4-ALK gene fusion mutations are more common in solid and mucinous adenocarcinoma.EGFR mutations are more common in female and non-smoking patients,whereas EML4-ALK fusions are more common in young,non-smoking patients.展开更多
Objective The aim of the study was to investigate the efficacy of immunocytochemistry and related gene detection using cell block for the diagnosis and individualized treatment of advanced lung cancer.Methods Sixty-fi...Objective The aim of the study was to investigate the efficacy of immunocytochemistry and related gene detection using cell block for the diagnosis and individualized treatment of advanced lung cancer.Methods Sixty-five malignant pleural effusion specimens were collected to make cell blocks, which were used for hematoxylin and eosin(H&E) staining, immunocytochemical studies, and gene sequencing of the tumors to guide the individualized diagnoses and treatment of the given tumors. Results The tumor cells in the cell block sections were abundant in number with high quality cellular structures, and the histological morphological characteristics were partially maintained. Immunocytochemical staining was helpful in identifying the cell origin and tumor classification, and amplification refractory mutation system(ARMS) was used to determine the mutation status of epidermal growth factor receptor(EGFR). Of the 65 samples, 50 had a diagnosis of adenocarcinoma, 7 were pulmonary squamous cells, 6 were small cell carcinoma of the lung, and 2 were mesothelioma. The morphological features of the tumors were as follows: acinar formation, papillary and single cells for adenocarcinoma;intercellular bridges for squamous cell carcinoma;and morphology of the small cells is similar to that of the smear. Correlating with the results of immunocytochemical staining and clinical data analysis, 40 cases were confirmed as pulmonary adenocarcinoma, with an additional 4 cases of breast cancer, 3 cases of ovarian adenocarcinoma, and 3 cases of colorectal adenocarcinoma. Of the 47 non-small cell lung carcinoma(NSCLC) patients, EGFR mutations were detected in 26 cases(55.3%) by ARMS, with four mutation types: exon 19 deletion(13 cases, 50.0%), exon 2l point mutations L858R(11 cases, 42.3%) and L861Q(1 case, 3.8%), and exon 18 point mutation G719X(1 case, 3.8%). Conclusion Malignant pleural effusion cell blocks combined with immunocytochemical markers and molecular pathology are helpful for the diagnosis of advanced tumors, the identification of tumor properties and histological tumor origin, and the selection of individualized treatment for advanced lung cancer.展开更多
基金Supported by a grant from the Sciences Foundation of Health Commission of Inner Mongolia Autonomous Region(No.201701008).
文摘Objective This study aimed to analyze the relationship between the mutations in epidermal growth factor receptor(EGFR)and anaplastic lymphoma kinase(ALK)and their impact on the prognosis and treatment of lung adenocarcinoma.Methods A total of 158 cases of lung adenocarcinoma reported between January 2007 and January 2014 were retrospectively analyzed.These tumors were resected using radical pneumonectomy and underwent pathology-based diagnosis at our institution(Inner Mongolia People’s Hospital,Hohhot,China).The tissue sections were evaluated using the updated World Health Organization classification of lung adenocarcinomas(2015 version),with each histological component recorded in 5%increments.The histological subtypes were classified,and any surviving cases were followed up.The reverse transcription-polymerase chain reaction(RT-PCR)and direct DNA sequencing were used to evaluate mutations in exons 18,19,20,and 21 in the EGFR gene,and the echinoderm microtubule-associated protein-like 4 gene-ALK variant(EML4-ALK)fusions were detected using sequencing.Results Our cohort included 25 patients with pre-invasive adenocarcinoma,13 patients with lepidic,66 patients with acinar,13 patients with papillary,and 25 patients with solid infiltrative adenocarcinoma with the remaining cases presenting with a variety of pathological subtypes.The prognosis of each histological subtype was different with the 5-year disease-free survival and 5-year overall survival(OS)of pre-invasion adenocarcinoma at 100%;the 5-year OS of lepidic,acinar,and papillary adenocarcinoma patients was only 84.6%,72.7%,and 76.9%,respectively.The 5-year OS of solid and mucinous adenocarcinomas were 32.0%and 36.4%,respectively.EGFR mutation was detected in 69 cases with a mutation rate of 43.7%and majority of these mutations were found in exons 19(50.6%)and 21(37.9%),with women and non-smokers shown to experience a higher mutation rate(P<0.05).However,histological subtype analysis showed that EGFR mutations were primarily found in adenocarcinomas.Most of these mutations were found in lepidic(53.8%)or acinar adenocarcinomas(50.0%),whereas these mutations were rare in both solid(28.0%)and mucinous adenocarcinoma(27.2%).The fusion mutation rate in the EML4-ALK gene was 5.69%,and was most common in young,nonsmoking patients(P<0.05).Conclusion The prognosis of patients in each lung adenocarcinoma subtype is different,and these outcomes are likely related to mutations in the EGFR and EML4-ALK genes.EGFR mutation rates are higher in lepidic and acinar adenocarcinomas,whereas EML4-ALK gene fusion mutations are more common in solid and mucinous adenocarcinoma.EGFR mutations are more common in female and non-smoking patients,whereas EML4-ALK fusions are more common in young,non-smoking patients.
基金Supported by a grant from the Natural Sciences Foundation of Inner Mongolia(No.2017MS08147)
文摘Objective The aim of the study was to investigate the efficacy of immunocytochemistry and related gene detection using cell block for the diagnosis and individualized treatment of advanced lung cancer.Methods Sixty-five malignant pleural effusion specimens were collected to make cell blocks, which were used for hematoxylin and eosin(H&E) staining, immunocytochemical studies, and gene sequencing of the tumors to guide the individualized diagnoses and treatment of the given tumors. Results The tumor cells in the cell block sections were abundant in number with high quality cellular structures, and the histological morphological characteristics were partially maintained. Immunocytochemical staining was helpful in identifying the cell origin and tumor classification, and amplification refractory mutation system(ARMS) was used to determine the mutation status of epidermal growth factor receptor(EGFR). Of the 65 samples, 50 had a diagnosis of adenocarcinoma, 7 were pulmonary squamous cells, 6 were small cell carcinoma of the lung, and 2 were mesothelioma. The morphological features of the tumors were as follows: acinar formation, papillary and single cells for adenocarcinoma;intercellular bridges for squamous cell carcinoma;and morphology of the small cells is similar to that of the smear. Correlating with the results of immunocytochemical staining and clinical data analysis, 40 cases were confirmed as pulmonary adenocarcinoma, with an additional 4 cases of breast cancer, 3 cases of ovarian adenocarcinoma, and 3 cases of colorectal adenocarcinoma. Of the 47 non-small cell lung carcinoma(NSCLC) patients, EGFR mutations were detected in 26 cases(55.3%) by ARMS, with four mutation types: exon 19 deletion(13 cases, 50.0%), exon 2l point mutations L858R(11 cases, 42.3%) and L861Q(1 case, 3.8%), and exon 18 point mutation G719X(1 case, 3.8%). Conclusion Malignant pleural effusion cell blocks combined with immunocytochemical markers and molecular pathology are helpful for the diagnosis of advanced tumors, the identification of tumor properties and histological tumor origin, and the selection of individualized treatment for advanced lung cancer.
