Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

10.1K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.

Cancers·2025
Same author

Analytical Validation of a Pan-Cancer Next-Generation Sequencing Assay for In-House Liquid Biopsy Testing: An International Multicenter Study.

The Journal of molecular diagnostics : JMD·2025
Same author

Yield of next-generation sequencing in diagnostic work up of suspicious biliary strictures.

Endoscopy international open·2025
Same author

Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

medRxiv : the preprint server for health sciences·2025
Same author

Utilizing ctDNA to discover mechanisms of resistance to targeted therapies in patients with metastatic NSCLC: towards more informative trials.

Nature reviews. Clinical oncology·2025
Same author

A Response to the Letter to the Editor: Comment on "Clinical Utility of Circulating Tumor DNA in Patients With Advanced KRAS(G12C)-Mutated NSCLC Treated With Sotorasib".

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer·2024

Related Experiment Video

Updated: Apr 5, 2026

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

3.4K

Mitochondrial D310 mutation as clonal marker for solid tumors.

Willemina R R Geurts-Giele1, Gerard H G K Gathier2,3, Peggy N Atmodimedjo2

  • 1Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands. w.geurts-giele@erasmusmc.nl.

Virchows Archiv : an International Journal of Pathology
|August 16, 2015
PubMed
Summary
This summary is machine-generated.

Mitochondrial D310 mutation analysis helps determine tumor clonality in patients with multiple tumors. This method aids in distinguishing metastatic disease from independent primary tumors, improving diagnosis and treatment strategies.

Keywords:
Metachronous tumorsMitochondrial DNASynchronous tumorsTumor clonality

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.4K

Related Experiment Videos

Last Updated: Apr 5, 2026

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

3.4K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.4K

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Distinguishing between metastatic disease and multiple independent primary tumors in patients with synchronous or metachronous tumors is diagnostically challenging using standard clinical and histological criteria.
  • Accurate tumor clonality assessment is crucial for determining patient prognosis and guiding appropriate treatment strategies.

Purpose of the Study:

  • To evaluate the diagnostic utility of mitochondrial D310 mutation analysis for assessing tumor clonality across a broad spectrum of tumor types.
  • To determine if D310 mutation analysis can aid in differentiating metastatic disease from multiple primary tumors.

Main Methods:

  • Sanger sequencing of the mitochondrial D310 mononucleotide repeat was performed on DNA from 857 tumors across 382 patients.
  • Tumor samples were analyzed for D310 mutations and compared with routine molecular analyses of genomic DNA.

Main Results:

  • Somatic D310 mutations were frequently observed (17%) in various tumor types, including breast, head and neck, gynecological, lung, colorectal, and skin cancers.
  • D310 mutation analysis identified clonal relationships in 26% of patients with multiple tumors.
  • Clonality assessments using mitochondrial DNA (mtDNA) and genomic DNA were concordant in 71% of cases.

Conclusions:

  • Mitochondrial D310 mutation status is a valuable marker for assessing tumor clonality in clinically complex cases of synchronous or metachronous tumors.
  • Complementing next-generation sequencing genomic DNA assays with mtDNA markers like the D310 repeat can enhance diagnostic accuracy for tumor clonality.