Related Experiment Video
Updated: Jul 1, 2025
12:04
Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
Published on: March 10, 2023
3.6K
Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series
Jiwon Yun1, Dong Soon Lee2, Sungyoung Lee3
1Department of Laboratory Medicine, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Korea.
Annals of Laboratory Medicine
|March 7, 2024
Summary
Multiple primary (MP) cancers combined with hematologic malignancies are rare. This study found germline variants in 40% of patients, suggesting germline testing is crucial for stem cell transplantation decisions.
Area of Science:
- Oncology
- Hematology
- Genetics
Background:
- Multiple primary (MP) cancers involve more than one distinct cancer in a single patient.
- The co-occurrence of MP cancers with hematologic malignancies is infrequent.
- Understanding the genetic underpinnings of these complex cases is critical.
Purpose of the Study:
- To investigate the clinical characteristics, cytogenetics, and germline/somatic variants in patients with MP cancers and hematologic malignancies.
- To assess the prevalence of pathogenic germline variants in this patient cohort.
- To inform clinical management, particularly regarding stem cell transplantation.
Main Methods:
- Retrospective analysis of five patients with MP cancers and hematologic malignancies.
- Comprehensive evaluation of clinical data, cytogenetic profiles, and germline and somatic genetic variants.
- Germline variant testing for cancer predisposition genes.
Main Results:
- Two patients had initial solid tumors, and three had initial hematologic cancers.
- All second primary cancers were hematologic malignancies, not meeting therapy-related myeloid neoplasm criteria.
- Two out of five patients (40%) presented with pathogenic or presumed germline variants in cancer predisposition genes.
Conclusions:
- The presence of germline variants in a significant portion of patients highlights the importance of genetic evaluation.
- Germline variant testing should be considered in MP cancer patients with hematologic malignancies.
- This is particularly relevant when evaluating candidates for related donor stem cell transplantation.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
11.9K
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...
11.9K
02:59Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K
02:50Combination Therapies and Personalized Medicine
4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K