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Mutations

Mutations

Mutations

Mutations

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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

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...

PCR

PCR

Muscles that Move the Arm

Muscles that Move the Arm

Nine muscles are involved in arm movements. Two of these, the pectoralis major and latissimus dorsi, originate from the axial skeleton and are called axial muscles. The other seven originate from the scapula and are called the scapular muscles.
The pectoralis major has two origins. Its clavicular head originates on the medial half of the clavicle. In contrast, the sternocostal head originates on the costal cartilages of ribs 1-6, the sternum, and the aponeurosis of the external oblique of the...

The Thyroid Gland

The Thyroid Gland

The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...

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Related Experiment Video

Updated: Jan 20, 2026

A Swin Transformer-Based Model for Thyroid Nodule Detection in Ultrasound Images

A Swin Transformer-Based Model for Thyroid Nodule Detection in Ultrasound Images

Published on: April 21, 2023

BRAF mutation analysis by ARMS-PCR refines thyroid nodule management.

Xinyang Li¹, Enling Li², Jing Du³

¹Department of Head and Neck Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.

Clinical Endocrinology

|August 24, 2019

Summary

The BRAF V600E mutation test aids in diagnosing thyroid nodules, especially indeterminate ones. Combining this test with cytopathology improves diagnostic accuracy for papillary thyroid carcinoma (PTC).

Keywords:

BRAF ARMS-PCR clinicopathological features fine-needle aspiration papillary thyroid carcinoma

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Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

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Published on: January 10, 2025

Area of Science:

Endocrinology
Oncology
Molecular Diagnostics

Background:

Fine-needle aspiration (FNA) of thyroid nodules frequently results in indeterminate diagnoses (nearly 25%).
The BRAF V600E mutation is a known predictor of papillary thyroid carcinoma (PTC).
Limited data exist on the clinical validity of preoperative BRAF V600E mutation testing in large cohorts.

Purpose of the Study:

To investigate the clinical significance of BRAF V600E mutation analysis in preoperative FNA samples.
To evaluate its impact on the diagnosis and decision-making for thyroid nodules in a large Chinese cohort.

Main Methods:

Prospective study involving 2640 FNA samples from 2307 patients.
BRAF V600E mutation analysis performed using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).

Main Results:

High BRAF V600E mutation rate (86.7%) observed in PTC cases.
For indeterminate nodules (Bethesda III/IV), BRAF V600E positivity significantly increased malignancy rates (87.8%-88.2%).
A combined diagnostic model (BSRTC grading + BRAF V600E status) achieved 82.9% sensitivity and 85.4% specificity.

Conclusions:

Combined analysis of cytopathology and BRAF V600E mutation testing is recommended in high-prevalence regions like China.
Prophylactic central neck dissection may be considered for selected patients irrespective of BRAF mutation status.