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Related Concept Videos

Unusual Results01:16

Unusual Results

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Unusual results are those that have a very low chance of occurring. Unusual results can be identified using probabilities and the range rule of thumb. In problems involving probability, unusual results can be observed in 2 instances – an unusually high number of successes or an unusually low number of successes.
According to the range rule of thumb, any value above or below two standard deviations, 2σ  from the mean, μ  is considered unusual.
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Magnetic bacteria exhibit a directed movement called magnetotaxis, driven by structures called magnetosomes. These magnetosomes consist of chains of magnetic particles made of either magnetite (Fe₃O₄) or greigite (Fe₃S₄) and are organized in a linear conformation by a protein scaffold within invaginations of the cell membrane. The bacteria align along the north–south magnetic field lines, much like a compass needle. They are typically microaerophilic or anaerobic...
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RACE - Rapid Amplification of cDNA Ends02:35

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Rapid Amplification of cDNA Ends, or RACE, is one of the most effective methods to obtain a full-length cDNA from an mRNA sequence between a known internal region to the unknown sequence at the 5’ or 3’ end. The unknown region is cloned in the cDNA by a gene-specific primer that binds the known end, and a hybrid primer that attaches a predefined anchor sequence to the unknown end of the cDNA. The sequence in between is amplified by PCR with an anchor primer and a gene-specific...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Random Error01:04

Random Error

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Random or indeterminate errors originate from various uncontrollable variables, such as variations in environmental conditions, instrument imperfections, or the inherent variability of the phenomena being measured. Usually, these errors cannot be predicted, estimated, or characterized because their direction and magnitude often vary in magnitude and direction even during consecutive measurements. As a result, they are difficult to eliminate. However, the aggregate effect of these errors can be...
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The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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Rare

Kien Hung Do1,2, Tai Van Nguyen1,2,3, Tu Anh Do1

  • 1Vietnam National Cancer Hospital-K Hospital Hanoi Vietnam.

Respirology Case Reports
|June 5, 2023
PubMed
Summary
This summary is machine-generated.

This study reports a rare T263P epidermal growth factor receptor (EGFR) mutation in advanced lung adenocarcinoma. The patient responded to afatinib therapy, but the overall prognosis remains poor, necessitating further research.

Keywords:
NSCLCT263P mutationextracellular EGFR mutation

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Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Epidermal growth factor receptor (EGFR) mutations are key drivers in non-small cell lung cancer (NSCLC).
  • The T263P mutation is a rare EGFR alteration in the extracellular domain, not extensively studied in lung cancer.
  • Targeted therapies, like tyrosine kinase inhibitors (TKIs), have revolutionized NSCLC treatment.

Observation:

  • A case of advanced lung adenocarcinoma with a unique T263P EGFR mutation is presented.
  • The patient, located in Vietnam, received first-line afatinib, a tyrosine kinase inhibitor.
  • A partial response was observed, with a time-to-treatment failure of 5 months.

Findings:

  • The T263P EGFR mutation, though rare, demonstrated sensitivity to afatinib in this NSCLC patient.
  • Despite initial response, the patient experienced disease progression and received subsequent chemotherapy.
  • The overall survival was 17 months, indicating a poor prognosis associated with this specific mutation.

Implications:

  • This case highlights the potential, albeit limited, benefit of afatinib for NSCLC patients with the T263P EGFR mutation.
  • Further clinical studies are crucial to evaluate the efficacy of various targeted therapies in this rare mutation subgroup.
  • Understanding the treatment landscape for rare EGFR mutations is vital for improving outcomes in NSCLC.