Related Experiment Videos
Lynch syndrome in a 15-year-old boy
A Bodas1, P Pérez-Segura, C Maluenda
1Department of Pediatrics, Hospital Clínico San Carlos, Madrid, Spain. andresbpinedo@yahoo.es
European Journal of Pediatrics
|January 10, 2008
Summary
Lynch syndrome, a hereditary cancer condition, was diagnosed in a 15-year-old boy due to a family history and MSH2 gene mutation. Early genetic testing is crucial for young patients with a family history of colorectal cancer.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, is an autosomal dominant disorder.
- It arises from germline mutations in DNA mismatch repair (MMR) genes, increasing cancer risk.
- Colorectal cancer is typically diagnosed in adults but can occur in younger individuals.
Observation:
- A 15-year-old boy was diagnosed with Lynch syndrome.
- His father and grandmother had a history of the same cancer.
- The patient exhibited microsatellite instability, prompting genetic analysis.
Findings:
- Germline mutations in MLH1, MSH2, MSH6, and PMS2 genes were investigated.
- Immunohistochemical staining, genomic sequencing, and deletion studies were performed.
- An MSH2 axonal deletion was identified as the cause of the syndrome.
Implications:
- This case highlights the importance of considering Lynch syndrome in pediatric patients with a family history of colorectal cancer.
- Early suspicion and genetic testing are vital for timely diagnosis and management.
- Identifying MMR gene mutations, such as MSH2 deletion, enables proactive cancer surveillance and potential prevention strategies.
Related Concept Videos
01:28Conduct Disorder
Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...
01:16Psychosexual Stages of Personality: Latency
Following the phallic stage in Freud's theory of psychosexual development, children enter a phase called the latency period, which lasts from approximately six to twelve years of age. Unlike earlier stages, where sexual impulses played a central role, Freud believed these impulses are repressed during the latency period, becoming part of the unconscious. This stage is often described as a time of psychological calm after the turbulence of the phallic stage.
The latency period is not considered...
The latency period is not considered...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...