Labour Management of a Woman with Carnitine Palmitoyl Transferase Type 2 Deficiency

Pm, Slater; Grivell, Rosalie M; Cyna, Allan M

doi:10.1177/0310057x0903700211

Cited by 15 publications

(12 citation statements)

References 10 publications

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“…The sequence data were aligned to the human reference genome (National Center for Biotechnology Information build 37) using Burrows-Wheeler Aligner. 24 GATK 4.0 was used to sort the aligned sequences and remove PCR duplication. 25 Somatic mutation calling was performed using Mutect1, Mutect2, 25 and VarDict.…”

Section: Next-generation Sequencingmentioning

confidence: 99%

Concomitant EGFR Mutation and EML4-ALK Rearrangement in Lung Adenocarcinoma Is More Frequent in Multifocal Lesions

Fan

Dai

Wang

et al. 2019

Clinical Lung Cancer

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We retrospectively investigated the intertumoral heterogeneity of pathologic and genetic characteristics of multifocal lung adenocarcinomas (LUAC) with epidermal growth factor receptor (EGFR)/anaplastic lymphoma kinase (ALK) co-alterations. The prevalence of EGFR/ALK co-alterations was higher in the multifocal LUAC than in the unifocal LUAC. To determine appropriate treatment strategies, extensive molecular profiling could give us more information to distinguish primary lesions from metastatic lesions. Background: The coexistence of epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) rearrangement in patients with multifocal lung adenocarcinomas (LUAC) constitutes a rare molecular subtype of lung cancer. We aimed to investigate the intertumoral heterogeneity of pathologic and genetic characteristics of multifocal LUAC with EGFR/ALK co-alterations. Patients and Methods: A total of 1059 LUAC patients who underwent resection were investigated to screen for EGFR or ALK alterations using amplification refractory mutation system polymerase chain reaction and immunohistochemistry/fluorescence in situ hybridization. Molecular testing was extensively performed in patients with synchronous multifocal LUAC. Clonal evolution analysis was implemented using next-generation sequencing. Results: A total of 97 multiple synchronous lesions were observed among 1059 LUAC patients. Patients with at least 1 sample harboring EGFR mutation or ALK rearrangement were 62.89% (61/97) and 14.43% (14/97), respectively. Patients with concomitant EGFR and ALK alterations were 4.71% (4/97). Comparatively, patients with unifocal LUAC harboring EGFR mutation, ALK rearrangement, and EGFR/ALK coalterations were 58.25% (570/962), 6.44% (62/962), and 0.83% (8/962), respectively. The prevalence of EGFR/ALK co-alterations in the multifocal LUAC was significantly higher than that in the unifocal LUAC (4.71% (4/97) vs. 0.83% (8/962)). Furthermore, we present 4 cases of EGFR/ALK co-altered multifocal LUAC with different morphological and molecular patterns. In addition to radiographic, pathological, and molecular testing results, clonal evolutional analysis could also be used to distinguish intertumoral heterogeneity. Conclusion: The results highlight the importance of distinguishing synchronous primary tumors from intrapulmonary metastases, and of assessing the relative abundance of EGFR mutation and ALK rearrangement in patients with multifocal adenocarcinomas with EGFR/ALK co-alterations.

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Section: Next-generation Sequencingmentioning

confidence: 99%

Concomitant EGFR Mutation and EML4-ALK Rearrangement in Lung Adenocarcinoma Is More Frequent in Multifocal Lesions

Fan

Dai

Wang

et al. 2019

Clinical Lung Cancer

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“…The sequencing data were firstly tested for quality control using fastqc. Next, the data were aligned to the human reference genome (NCBI build 37) using BWA (17), then sorted and removed PCR duplication using GATK 4.0 (18). Somatic mutation calling was performed using Mutect2 (18), VarDict (19), and Strelka2 (20).…”

Section: Bioinformatic Analysismentioning

confidence: 99%

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report

et al. 2019

Front. Oncol.

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Hepatoid adenocarcinoma of lung (HAL) is a rare and aggressive tumor. The current study reported a new HAL case in the right lower lung with high serum α-fetoprotein (AFP) level in a 71-year-old male patient. After the confirmation of morphology and immunohistochemistry, the patient was diagnosed clinically with HAL and treated with radio-frequency ablation. However, the patient whose disease progressed eventually died 4 months after diagnosis. Whole genome sequencing analysis identified a driver gene mutation in the FAT atypical cadherin 1 gene (FAT1) and the copy number loss. The tumor was microsatellite-stable and tumor mutation burden (TMB) was 1.69 mutations/Mb. PD-L1 expression was negative by IHC. Our finding provide further clues for the molecular basis of HAL and the efficacy of immunotherapy needs to be explored.

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“…Sequencing data were aligned to the UCSC hg19 genome using Burrows-Wheeler Aligner (BWA) (15). The BAMs were sorted and removed PCR duplications with sambamba (16).…”

Section: Somatic Mutations Copy Number Alteration (Cna) and Tumor's Clonal Composition Detectionmentioning

confidence: 99%

Distinct patterns of somatic genomic alterations and mutational signatures in central and peripheral-type small-cell lung cancer

Wang

Wang²,

et al. 2021

Transl Lung Cancer Res

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Background: Generally, small-cell lung cancer (SCLC) can be classified into central and peripheral-type.Genomic landscape and genetic heterogeneity between central and peripheral-type SCLCs is scarce.Methods: We conducted whole-exome sequencing (WES) of 41 tumor/control pairs of SCLC samples.In all cases, 8,186 genes with non-synonymous mutations were identified, as well as significantly mutated genes (SMGs), tumor mutation burden (TMB), weighted genome instability index (wGII) and somatic copy number alteration (SCNA), the driver recurrent SCNA, and mutational signatures between central and peripheral-type SCLCs.Results: TMB of peripheral-type SCLCs were higher than central-type. Smoking patients had significantly higher wGII and CNA burden than the non-smokers in SCLCs, these alterations were more obviously in central-types. Furthermore, the driver SCNA regions of central and peripheral-type SCLCs were different.Central and peripheral-type SCLCs had no common recurrent amplification (AMP) cytobands or genes, but had collective recurrent deletion (DEL) including four cytobands and five genes. Interestingly, the AMP 12q24.31 was negative correlated with overall survival (OS) in central but not peripheral-type SCLCs. Moreover, a de novo mutational signature A was found significantly higher in peripheral than central-type SCLCs. In parallel, signature D was predictive of poor outcome, which was mainly in peripheral SCLC patients. COSMIC signatures analysis revealed that the association with signature D and OS was similar to the positive relationship between signature 13 and outcome.Conclusions: Central and peripheral-type SCLCs were different in immunotherapy response, genome instability, the driver SCNAs and mutational signatures, which leaded to differences of prognosis.

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Labour Management of a Woman with Carnitine Palmitoyl Transferase Type 2 Deficiency

Cited by 15 publications

References 10 publications

Concomitant EGFR Mutation and EML4-ALK Rearrangement in Lung Adenocarcinoma Is More Frequent in Multifocal Lesions

Concomitant EGFR Mutation and EML4-ALK Rearrangement in Lung Adenocarcinoma Is More Frequent in Multifocal Lesions

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report

Distinct patterns of somatic genomic alterations and mutational signatures in central and peripheral-type small-cell lung cancer

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