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

Pleiotropy01:33

Pleiotropy

38.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
38.9K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

8.6K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.6K
Genetic Lingo01:11

Genetic Lingo

98.9K
Overview
98.9K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.3K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.4K
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...
11.4K

You might also read

Related Articles

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

Sort by
Same author

What Is New in Diagnostics and Management of Medullary Thyroid Carcinoma.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2025
Same author

Epidemiology, Clinical Presentation, and Diagnosis of Medullary Thyroid Carcinoma.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2025
Same author

Medullary Thyroid Carcinoma: Imaging.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2025
Same author

Long-Term Follow-Up in Medullary Thyroid Carcinoma Patients.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2025
Same author

The Long-Term Cure of Patients With Hereditary Medullary Thyroid Carcinoma: 40 Years of Follow-Up in a Single Center.

Deutsches Arzteblatt international·2024
Same author

Thyroid Dysfunction in Periand Postmenopausal Women-Cumulative Risks.

Deutsches Arzteblatt international·2023
Same journal

Future Challenges of Molecular Imaging in Oncology.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
Same journal

Clinical Applications of Theranostics.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
Same journal

Internal Radiation Therapy.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
Same journal

The Role of Molecular Imaging in Ion Beam Therapy.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
Same journal

Molecular Imaging in Photon Radiotherapy.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
Same journal

Advancements in Intraoperative Imaging for Enhanced Surgical Precision.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer·2026
See all related articles

Related Experiment Video

Updated: May 21, 2025

Establishment and Characterization of Patient-Derived Xenograft Models of Anaplastic Thyroid Carcinoma and Head and Neck Squamous Cell Carcinoma
06:08

Establishment and Characterization of Patient-Derived Xenograft Models of Anaplastic Thyroid Carcinoma and Head and Neck Squamous Cell Carcinoma

Published on: June 2, 2023

1.7K

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Karin Frank-Raue1,2, Friedhelm Raue3,4

  • 1Endocrine Practice, Heidelberg, Germany. karin.frank.raue@raue-endokrinologie.de.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer
|March 19, 2025
PubMed
Summary
This summary is machine-generated.

Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET gene mutations. Management now uses clinical data, like calcitonin levels, for personalized prophylactic thyroidectomy timing.

Keywords:
CalcitoninGenotype–phenotype correlationHereditary medullary thyroid carcinomaMultiple endocrine neoplasiaRET proto-oncogene

More Related Videos

Spontaneous Murine Model of Anaplastic Thyroid Cancer
05:39

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

1.6K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Related Experiment Videos

Last Updated: May 21, 2025

Establishment and Characterization of Patient-Derived Xenograft Models of Anaplastic Thyroid Carcinoma and Head and Neck Squamous Cell Carcinoma
06:08

Establishment and Characterization of Patient-Derived Xenograft Models of Anaplastic Thyroid Carcinoma and Head and Neck Squamous Cell Carcinoma

Published on: June 2, 2023

1.7K
Spontaneous Murine Model of Anaplastic Thyroid Cancer
05:39

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

1.6K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome.
  • It is caused by germline variants in the REarranged during Transfection (RET) proto-oncogene, leading to gain-of-function mutations.
  • MEN2 presents as MEN2A or MEN2B, with distinct associated conditions like medullary thyroid carcinoma (MTC) and pheochromocytoma.

Purpose of the Study:

  • To outline the genotype-phenotype correlations in MEN2.
  • To stratify RET mutations into risk levels for MTC.
  • To guide personalized management strategies for MEN2, including prophylactic thyroidectomy and biochemical screening.

Main Methods:

  • Analysis of genotype-phenotype correlations in MEN2 patients.
  • Stratification of RET mutations into highest, high, and moderate risk categories based on MTC onset and penetrance.
  • Integration of clinical data, particularly serum calcitonin (Ctn) levels, into management decisions.

Main Results:

  • Strong genotype-phenotype correlations exist for RET mutations, influencing disease presentation and course.
  • RET mutations are categorized into risk levels, dictating age-specific management for MTC.
  • Personalized prophylactic thyroidectomy timing is increasingly driven by serum Ctn levels, not solely genotype.

Conclusions:

  • Prophylactic thyroidectomy timing in MEN2 requires a personalized approach, integrating genetic risk with clinical markers like Ctn levels.
  • Biochemical screening for associated conditions such as pheochromocytoma and primary hyperparathyroidism should also be personalized.
  • Understanding genotype-phenotype correlations is crucial for optimizing the management of MEN2 syndrome.