Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

The Retinoblastoma Gene

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The Retinoblastoma Gene

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The Parathyroid Glands

The Parathyroid Glands

The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...

Cancer-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes I: Proto-oncogenes

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...

You might also read

Related Articles

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

Sort by

Same journal

The psychosocial impact of receiving a polygenic risk score informing risk of prostate cancer.

Hereditary cancer in clinical practice·2026

Same journal

BRCAShare: a video-based message can increase sharing of familial genetic test results.

Hereditary cancer in clinical practice·2026

Same journal

Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men.

Hereditary cancer in clinical practice·2026

Same journal

Are current Polish guidelines for prophylactic mastectomy sufficient?

Hereditary cancer in clinical practice·2026

Same journal

Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.

Hereditary cancer in clinical practice·2026

Same journal

Breast cancer specialists' experiences and attitudes towards mainstream genetic testing for patients with breast cancer.

Hereditary cancer in clinical practice·2026

Search research articles

Related Experiment Video

Updated: Jun 15, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Published on: May 17, 2024

Familial paragangliomas.

Cjm Lips¹, Egwm Lentjes, Jwm Höppener

¹Divisions of Internal Medicine and Endocrinology, Utrecht, The Netherlands. lips05@zonnet.nl.

Hereditary Cancer in Clinical Practice

|March 13, 2010

Summary

Paragangliomas, rare autonomic nervous system tumors, have sporadic and hereditary forms. Early diagnosis and resection are crucial to minimize morbidity associated with tumor size.

Area of Science:

Endocrinology
Oncology
Genetics

Background:

Paragangliomas are rare tumors of the autonomic nervous system, presenting as sporadic or hereditary forms.
While typically benign with low mortality, they cause significant morbidity due to mass effect.

Purpose of the Study:

To provide an overview of the current literature on paragangliomas.
To discuss the origins of different paraganglioma forms, diagnostic methods, and screening guidelines.

Main Methods:

Literature review of current research on paragangliomas.
Analysis of genetic predispositions, including familial tumor syndromes and specific gene mutations.
Review of diagnostic and screening approaches.

Main Results:

More Related Videos

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

Published on: March 7, 2017

Related Experiment Videos

Last Updated: Jun 15, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Published on: May 17, 2024

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

Published on: March 7, 2017

Familial paragangliomas often present earlier and multifocally compared to sporadic forms.
Morbidity is directly related to tumor size, emphasizing the need for early detection.
Genetic predisposition can arise from syndromes like MEN 2, VHL, NF-1, or specific paraganglioma-related gene mutations.

Conclusions:

Understanding the diverse origins of paragangliomas is key to effective management.
Early diagnosis and surgical resection are vital for reducing patient morbidity.
Established guidelines for DNA diagnosis, biochemical, and radiological screening aid in timely intervention.