Related Experiment Video
Updated: Feb 15, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
8.1K
Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.
Clothaire P E Spoto1, Irene Gullo2, Fatima Carneiro2
1Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands.
Seminars in Diagnostic Pathology
|February 5, 2018
Summary
Pathologists are vital for identifying hereditary gastrointestinal cancers. This review covers key hereditary gastric and colorectal cancer syndromes, including diagnostic clues and genetic testing guidance.
Area of Science:
- Gastroenterology and Pathology
- Oncology
- Genetics
Background:
- Hereditary gastrointestinal cancers significantly impact patients and families.
- Accurate recognition is crucial for timely diagnosis and management.
- Pathologists play a pivotal role in identifying potential hereditary cancer cases.
Purpose of the Study:
- To review clinical, pathological, and molecular features of hereditary gastric and colorectal cancers.
- To highlight histopathological clues for recognizing hereditary gastrointestinal cancer syndromes.
- To discuss ancillary studies and genetic testing strategies for these conditions.
Main Methods:
- Comprehensive literature review of hereditary gastrointestinal cancer syndromes.
- Synthesis of clinical, pathological, and molecular data.
- Analysis of diagnostic criteria and histopathological findings.
Main Results:
- Detailed overview of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach.
- Recapitulation of Lynch syndrome and gastrointestinal polyposis syndromes (FAP, PJS, JPS).
- Identification of key histopathological features suggestive of hereditary cancer.
Conclusions:
- Early recognition of hereditary gastrointestinal cancer is critical.
- Histopathological examination provides essential clues for syndrome diagnosis.
- Ancillary studies and genetic testing are key to confirming hereditary cancer and guiding management.
Keywords:
Colon cancerColorectal cancerCowden syndromeFamilial adenomatous polyposisGastric adenocarcinoma and proximal polyposis of the stomachGastric cancerHereditary cancer syndromeHereditary diffuse gastric cancerHereditary nonpolyposis colorectal cancerJuvenile polyposis syndromeLynch syndromePeutz-Jeghers syndromeRectal cancerSerrated polyposis syndrome
Related Concept Videos
01:26Anatomy of the Gastrointestinal System
2.9K
The human digestive system is an intricate and essential network for nutrient absorption and waste elimination. It encompasses the gastrointestinal (GI) tract and several accessory organs.
Here's a detailed walkthrough of this complex system:
Here's a detailed walkthrough of this complex system:
2.9K
01:12Trial and Error and Algorithm
435
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
435
01:20Gastrointestinal Motility Disorders
1.3K
Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
1.3K
01:20Histology of the Gastrointestinal (GI) Tract
3.6K
The GI tract, from beginning to end, is made up of four continuous tissue layers that adjust their structure according to their specific roles. These layers, from innermost to outermost, are known as the mucosa, submucosa, muscularis, and serosa, which are continuous with the mesentery.
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...
3.6K
02:16Genetics of Speciation
22.0K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
22.0K
01:25What is Population Genetics?
65.0K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
65.0K