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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Updated: Feb 16, 2026

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Lung Cancer with Concomitant Double Gene Mutation.

Tao Fan1, Xiu-Li Liu1, Jun Zhou1

  • 1Department of Oncology, Three Gorges University People's Hospital, the First People's Hospital of Yichang, Xiling District, Yichang City, Hubei-443000, China.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|January 2, 2018
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Summary
This summary is machine-generated.

A rare case of non-small cell lung cancer (NSCLC) with both epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) rearrangement was identified. The patient achieved partial response after initial chemotherapy.

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Area of Science:

  • Oncology
  • Genetics
  • Thoracic Surgery

Background:

  • Concomitant epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are rare in non-small cell lung cancer (NSCLC).
  • Accurate molecular profiling is crucial for guiding treatment decisions in NSCLC.

Purpose of the Study:

  • To report a rare case of NSCLC with co-occurring EGFR exon 19 deletion and ALK rearrangement.
  • To describe the clinical presentation, diagnostic process, and initial treatment outcome.

Main Methods:

  • Positron emission tomography-computed tomography (PET-CT) for staging.
  • Transbronchial lung biopsy (TBLB) for pathological diagnosis.
  • Next-generation sequencing or similar molecular testing for EGFR and ALK status.
  • Surgical resection (left lower lobectomy and lymph node dissection).
  • Chemotherapy (pemetrexed and carboplatin).

Main Results:

  • A 5.0 cm metabolically active mass in the left lower lobe (S6 segment) was detected via PET-CT.
  • Pathological diagnosis confirmed invasive adenocarcinoma.
  • Tumor molecular analysis revealed both EGFR (exon 19-del) mutation and ALK rearrangement.
  • Post-surgery, the patient received four cycles of pemetrexed and carboplatin chemotherapy.
  • Partial response (PR) was achieved following chemotherapy.

Conclusions:

  • This case highlights the importance of comprehensive molecular testing in NSCLC, even in rare genetic combinations.
  • The identification of both EGFR and ALK alterations in a single NSCLC patient presents unique therapeutic challenges and opportunities.
  • Initial chemotherapy demonstrated efficacy, suggesting potential treatment pathways for such complex cases.