Related Experiment Video
Updated: May 8, 2026
09:37
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Cancer problem in Peutz-Jeghers syndrome
Diana Taheri1, Noushin Afshar-Moghadam, Parvin Mahzoni
1Department of Pathology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Advanced Biomedical Research
|August 27, 2013
Summary
Peutz-Jeghers syndrome (PJS) patients have an increased risk of malignancies. This case highlights an incidental ovarian sex cord tumor with annular tubules diagnosis in a PJS patient, reinforcing the need for routine cancer screening.
Area of Science:
- Oncology
- Genetics
- Gynecology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
- PJS is characterized by hamartomatous polyps and mucocutaneous pigmentation.
- PJS increases the risk of various malignancies, including ovarian neoplasms.
Observation:
- A 42-year-old woman with a history of PJS and bilateral breast cancer presented with abnormal uterine bleeding.
- The patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy.
- An incidental diagnosis of ovarian sex cord tumor with annular tubules (SCTAT) was made.
Findings:
- SCTAT is associated with PJS in approximately one-third of cases.
- This case adds to the literature linking PJS with gynecological malignancies.
- The patient's presentation underscores the complexity of PJS-associated neoplasms.
Implications:
- Routine screening for malignancies is crucial for individuals with Peutz-Jeghers syndrome.
- Early detection of PJS-related cancers can improve patient outcomes.
- Further research into the specific cancer risks associated with PJS is warranted.
Related Concept Videos
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
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...
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...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
01:33Cancer-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...
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...
01:33Cancer-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...
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...
02:21Cancers Originate from Somatic Mutations in a Single Cell
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...
01:12Loss of Tumor Suppressor Gene Functions
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...