Related Experiment Video
Updated: Mar 24, 2026
08:57
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
2.8K
Myeloid Neoplasms with Germline Predisposition: A New Provisional Entity Within the World Health Organization
David R Czuchlewski1, LoAnn C Peterson2
1Department of Pathology, University of New Mexico, 1001 Woodward Place NE, Albuquerque, NM 87102, USA.
Surgical Pathology Clinics
|March 5, 2016
Summary
A new World Health Organization (WHO) classification will recognize myeloid neoplasms with germline predisposition. This impacts diagnosing acute myeloid leukemia and myelodysplastic syndromes in genetically susceptible patients.
Area of Science:
- Hematology
- Oncology
- Clinical Genetics
Background:
- The World Health Organization (WHO) classification of hematopoietic neoplasms is evolving.
- Germline mutations can predispose individuals to myeloid malignancies.
- Distinguishing these from sporadic myeloid neoplasms is clinically significant.
Purpose of the Study:
- To review the new provisional diagnostic entity: Myeloid Neoplasms with Germline Predisposition.
- To outline the implications for diagnostic pathology.
- To provide strategies for clinical practice and diagnosis.
Main Methods:
- Review of current literature and forthcoming WHO classification updates.
- Analysis of diagnostic criteria for myeloid neoplasms.
- Integration of clinical genetics and molecular pathology findings.
Main Results:
- Introduction of "Myeloid Neoplasms with Germline Predisposition" as a new provisional entity.
- Identification of specific constitutional mutations associated with increased risk.
- Recognition of acute myeloid leukemia and myelodysplastic syndromes within this category.
Conclusions:
- Diagnostic pathologists require enhanced knowledge of clinical genetics and molecular techniques.
- Accurate identification of germline predisposition is crucial for patient management.
- This review offers practical guidance for integrating this new classification into practice.
Keywords:
Acute myeloid leukemiaFamilial cancerGermline predisposition mutationMyelodysplastic syndromeMore Related Videos
Related Concept Videos
01:15Differentiation of Common Myeloid Progenitor Cells
4.2K
Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...
4.2K
02:21Cancers Originate from Somatic Mutations in a Single Cell
15.4K
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...
15.4K
02:21Cancers Originate from Somatic Mutations in a Single Cell
3.2K
3.2K
01:20The Retinoblastoma Gene
4.9K
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 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,...
4.9K
02:23Abnormal Proliferation
5.4K
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...
5.4K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
10.0K
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...
10.0K