scholarly journals Next-generation sequencing revealed synchronous double primary lung squamous carcinoma: a case report

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110185
Author(s):  
De-Song Yang ◽  
Kai Huang ◽  
Min Su ◽  
Ting-Ting Wang ◽  
Si-Si Liu ◽  
...  
Keyword(s):  
Rare Case ◽  
Therapeutic Strategy ◽  
Primary Lung Cancer ◽  
Squamous Carcinoma ◽  
Driver Mutations ◽  
Genetic Profiling ◽  
Multiple Primary ◽  
Lung Squamous Carcinoma ◽  
Optimal Therapeutic Strategy ◽  
Generation Sequencing

Synchronous double primary lung squamous carcinoma (sDPLSCC) is rare and difficult to distinguish from metastatic disease, histopathologically. Owing to the heterogeneity of cancer, it is also difficult to select the optimal therapeutic strategy for patients with multiple primary lung cancer (MPLC). The present study reports a rare case of a 61-year-old male patient with sDPLSCC diagnosed using histology and genetic profiling. LSCC-related driver mutations were detected in this patient, and we reported the TP53 c.475G>C mutation, which has been detected in both breast cancer and hepatocellular carcinoma, but not previously in lung squamous carcinoma. Our findings provide further evidence supporting the necessity of genetic testing for primary tumor diagnosis.

scholarly journals Molecular Identification and Genetic Characterization of Early-Stage Multiple Primary Lung Cancer by Large-Panel Next-Generation Sequencing Analysis

2021 ◽  
Vol 11 ◽  
Author(s):  
Guotian Pei ◽  
Mingwei Li ◽  
Xianjun Min ◽  
Qiang Liu ◽  
Dasheng Li ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Early Stage ◽  
Primary Lung Cancer ◽  
Advanced Stage ◽  
Next Generation ◽  
Molecular Method ◽  
Multiple Primary ◽  
Large Panel ◽  
Generation Sequencing

ObjectiveThe incidence of early stage multiple primary lung cancer (MPLC) has been increasing in recent years, while the ideal strategy for its diagnosis and treatment remains controversial. The present study conducted genomic analysis to identify a new molecular classification method for accurately predicting the diagnosis and therapy for patients with early stage MPLC.MethodsA total of 240 tissue samples from 203 patients with multiple-non-small-cell lung cancers (NSCLCs) (n = 30), early stage single-NSCLC (Group A, n = 94), and advanced-stage NSCLC (Group B, n = 79) were subjected to targeted multigene panel sequencing.ResultsThirty patients for whom next-generation sequencing was performed on >1 tumor were identified, yielding 45 tumor pairs. The frequencies of EGFR, TP53, RBM10, ERBB2, and CDKN2A mutations exhibited significant differences between early and advanced-stage NSCLCs. The prevalence of the EGFR L858R mutation in early stage NSCLC was remarkably higher than that in advanced-stage NSCLC (P = 0.047). The molecular method classified tumor pairs into 26 definite MPLC tumors and four intrapulmonary metastasis (IM) tumors. A high rate of discordance in driver genetic alterations was found in the different tumor lesions of MPLC patients. The prospective Martini histologic prediction of MPLC was discordant with the molecular method for three patients (16.7%), particularly in the prediction of IM (91.7% discordant).ConclusionsComprehensive molecular evaluation allows the unambiguous delineation of clonal relationships among tumors. In comparison, the Martini and Melamed criteria have notable limitations in the recognition of IM. Our results support the adoption of a large panel to supplement histology for strongly discriminating NSCLC clonal relationships in clinical practice.

scholarly journals A rare case of synchronous multiple primary lung cancer with different responses to gefitinib

2020 ◽  
Vol 31 ◽  
pp. 101270
Author(s):  
Che-Chi Liao ◽  
Yu-Sen Lin ◽  
Yu-Chao Lin ◽  
Chiao-Jen Cheng ◽  
Shuo-Chueh Chen
Keyword(s):  
Lung Cancer ◽  
Rare Case ◽  
Primary Lung Cancer ◽  
Multiple Primary

scholarly journals Case Report: A Rare Case of Metachronous Multiple Primary Lung Cancers in a Patient With Successful Management by Switching From Anti-PD-1 Therapy to Anti-PD-L1 Therapy

2021 ◽  
Vol 12 ◽  
Author(s):  
Xinqing Lin ◽  
Guihuan Qiu ◽  
Fang Li ◽  
Haiyi Deng ◽  
Yinyin Qin ◽  
...  
Keyword(s):  
Rare Case ◽  
Therapeutic Strategy ◽  
Sequence Data ◽  
Primary Adenocarcinoma ◽  
Successful Management ◽  
Lung Cancers ◽  
Multiple Primary ◽  
Clinical Benefits ◽  
Therapeutic Alternatives ◽  
Shed Light

Without global standard diagnostic criteria, distinguishing multiple primary lung cancers (MPLCs) from intrapulmonary metastasis or histologic transformation has been a big challenge in clinical practice. Here, we described a rare case of metachronous adenocarcinoma and small cell lung cancer (SCLC) in a patient who developed drug resistance to pembrolizumab. Both DNA-sequencing and RNA-sequencing were performed on primary adenocarcinoma and resistant lesions. Through the comparison of primary adenocarcinoma and novel lesion mutation profiles, along with bioinformatic estimation of immune proportion by using RNA sequence data, we revealed the origin and tumor microenvironment of the two lesions. No shared mutations were detected between lung adenocarcinoma (LUAD) and SCLC from the same patient, suggesting these two lesions might be from separate primary lung cancers. Compared to LUAD, SCLC showed a relatively cold microenvironment, including negative PD-L1. The patient obtained durable clinical benefits upon treatment with atezolizumab, without experiencing immune-related adverse events. Disease progression should be monitored with prompt re-biopsy and molecular profiling to spot a potential histologic change and to shed light on therapeutic alternatives. The use of atezolizumab, either alone or in combination with other agents, may be a potential therapeutic strategy for patients with both LUAD and SCLC.

scholarly journals A Rare Case Of Synchronous Multiple Primary Lung Cancer: Squamous Cell Cancer And Small Cell Lung Cancer

2019 ◽  
Vol Volume 12 ◽  
pp. 8801-8806
Author(s):  
Luxi Jiang ◽  
Xiangxin Zheng ◽  
Shengchang Wu ◽  
Jie Zhang ◽  
Guoqing Ru ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Small Cell Lung Cancer ◽  
Squamous Cell ◽  
Rare Case ◽  
Squamous Cell Cancer ◽  
Cell Cancer ◽  
Primary Lung Cancer ◽  
Small Cell ◽  
Small Cell Lung ◽  
Multiple Primary

scholarly journals Next-generation sequencing facilitates differentiating between multiple primary lung cancer and intrapulmonary metastasis: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Changjiang Liu ◽  
Chengang Liu ◽  
Xiao Zou ◽  
Lin Shao ◽  
Ying Sun ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Differential Diagnosis ◽  
Primary Lung Cancer ◽  
Invasive Adenocarcinoma ◽  
Free Survival ◽  
Multiple Primary ◽  
Minimally Invasive Adenocarcinoma ◽  
The Right ◽  
Generation Sequencing

Abstract Background In lung cancer management, differential diagnosis between multiple primary lung cancer (MPLC) and intrapulmonary metastasis (IMP) is a critical point that is of direct therapeutic and clinical importance. However, this process often suffers from absence of a gold standard, resulting in equivocal cases. Herein, we present a series of three cases, in which genomic alteration patterns revealed by next-generation sequencing (NGS) facilitated the differential diagnosis between MPLC and IMP. Case presentation Case 1 was a 57-year-old female with two separate lesions in the upper lobe and the lower lobe of left lung, which were both histopathologically determined as T2aN0M0 adenocarcinomas. NGS identified an EGFR L858R in one lesion and an EGFR 20 exon insertion in the other one, suggestive of double primary malignancies. The patient underwent wedge resections and received an adjuvant treatment of icotinib and chemotherapy. She had a disease-free survival (DFS) of 19 months and counting. Case 2 was a 55-year-old female with multiple small lesions in both lungs. Histopathological examinations of resected lesions from right upper lobe revealed three subtypes: atypical adenomatous hyperplasia of alveolar epithelium, adenocarcinomas in situ and minimally invasive adenocarcinoma. NGS identified two different BRAF driver mutations G466E and V600_K601delinsE in two lesions of adenocarcinoma in situ, and a BRAF K601E in a lesion of minimally invasive adenocarcinoma. Case 3, a 68-year-old male, had the right upper lobe lesion histophathologically classified as a stage T3NxM0 mixed adenoneuroendocrine carcinoma and the left upper lobe lesion as a stage T1aN0M0 adenocarcinoma. NGS performed with different loci of surgical tissues revealed a rare sensitizing EGFR mutation G719A shared by the right upper lobe lesion and lymph node, and two EGFR mutations L861Q and G719S in left upper lobe lesion. The patient received icotinib treatment postoperatively and achieved a stable disease with a progression-free survival of 5 months. Conclusion Our cases provide evidence for utility of NGS in facilitating diagnosis and treatment decisions.

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

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.

scholarly journals Myelodysplastic Syndromes in the Postgenomic Era and Future Perspectives for Precision Medicine

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3296
Author(s):  
Ioannis Chanias ◽  
Kristina Stojkov ◽  
Gregor Stehle ◽  
Michael Daskalakis ◽  
Helena Simeunovic ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Myelodysplastic Syndromes ◽  
Clonal Evolution ◽  
Driver Mutations ◽  
Future Perspectives ◽  
Hematopoietic Stem ◽  
Secondary Acute Myeloid Leukemia ◽  
Stem And Progenitor Cells ◽  
Unfit Patients ◽  
Generation Sequencing

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal disorders caused by sequential accumulation of somatic driver mutations in hematopoietic stem and progenitor cells (HSPCs). MDS is characterized by ineffective hematopoiesis with cytopenia, dysplasia, inflammation, and a variable risk of transformation into secondary acute myeloid leukemia. The advent of next-generation sequencing has revolutionized our understanding of the genetic basis of the disease. Nevertheless, the biology of clonal evolution remains poorly understood, and the stochastic genetic drift with sequential accumulation of genetic hits in HSPCs is individual, highly dynamic and hardly predictable. These continuously moving genetic targets pose substantial challenges for the implementation of precision medicine, which aims to maximize efficacy with minimal toxicity of treatments. In the current postgenomic era, allogeneic hematopoietic stem cell transplantation remains the only curative option for younger and fit MDS patients. For all unfit patients, regeneration of HSPCs stays out of reach and all available therapies remain palliative, which will eventually lead to refractoriness and progression. In this review, we summarize the recent advances in our understanding of MDS pathophysiology and its impact on diagnosis, risk-assessment and disease monitoring. Moreover, we present ongoing clinical trials with targeting compounds and highlight future perspectives for precision medicine.

scholarly journals A rare case of eight multiple primary malignant neoplasms in a female patient: A case report and review of the literature

2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Rare Case ◽  
Malignant Neoplasms ◽  
Review Of The Literature ◽  
Multiple Primary

Does histological assessment accurately distinguish separate primary lung adenocarcinomas from intrapulmonary metastases? A study of paired resected lung nodules in 32 patients using a routine next-generation sequencing panel for driver mutations

2021 ◽  
pp. jclinpath-2021-207421
Author(s):  
Frido K Bruehl ◽  
Erika E Doxtader ◽  
Yu-Wei Cheng ◽  
Daniel H Farkas ◽  
Carol Farver ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Analysis ◽  
Low Frequency ◽  
Driver Mutations ◽  
Lung Nodules ◽  
Driver Gene ◽  
Next Generation ◽  
Histological Assessment ◽  
Lung Adenocarcinomas ◽  
Generation Sequencing

AimVarious approaches have been reported for distinguishing separate primary lung adenocarcinomas from intrapulmonary metastases in patients with two lung nodules. The aim of this study was to determine whether histological assessment is reliable and accurate in distinguishing separate primary lung adenocarcinomas from intrapulmonary metastases using routine molecular findings as an adjunct.MethodsWe studied resected tumour pairs from 32 patients with lung adenocarcinomas in different lobes. In 15 of 32 tumour pairs, next-generation sequencing (NGS) for common driver mutations was performed on both nodules. The remainder of tumour pairs underwent limited NGS, or EGFR genotyping. Tumour pairs with different drivers (or one driver/one wild-type) were classified as molecularly unrelated, while those with identical low-frequency drivers were classified as related. Three pathologists independently and blinded to the molecular results categorised tumour pairs as related or unrelated based on histological assessment.ResultsOf 32 pairs, 15 were classified as related by histological assessment, and 17 as unrelated. Of 15 classified as related by histology, 6 were classified as related by molecular analysis, 4 were unrelated and 5 were indeterminate. Of 17 classified as unrelated by histology, 14 were classified as unrelated by molecular analysis, none was related and 3 were indeterminate. Histological assessment of relatedness was inaccurate in 4/32 (12.5%) tumour pairs.ConclusionsA small but significant subset of two-nodule adenocarcinoma pairs is inaccurately judged as related by histological assessment, and can be proven to be unrelated by molecular analysis (driver gene mutations), leading to significant downstaging.

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