The NPM1 gene, also known as nucleophosmin 1, is a gene that plays a crucial role in cell function. It is involved in various genetic and molecular changes, and its abnormal variants have been linked to different diseases. The NPM1 gene is extensively studied in the scientific community, and many articles and resources are available to provide information about its role in various conditions.

One of the most well-known diseases associated with the NPM1 gene is acute myeloid leukemia (AML). About one-third of patients with AML have a genetic variant in the NPM1 gene. This variant, known as NPM1c, can be detected and identified through laboratory testing. The presence of NPM1c is a favorable prognostic marker and is associated with a better outcome in AML.

In addition to AML, the NPM1 gene has been studied in other cancers, including myeloid leukemias and promyelocytic leukemia. It has also been found to be involved in normal and abnormal changes in the nucleus of cells. The NPM1 gene has been linked to changes in the structure and function of the nucleus, which can have implications for various cellular processes.

Several databases and registries list the NPM1 gene and provide resources and information related to its role in different diseases. These databases include OMIM, PubMed, and various genetic testing resources. The NPM1 gene is also mentioned in scientific articles, research papers, and health-related publications.

In conclusion, the NPM1 gene is a significant gene that is involved in various cellular processes and is linked to several diseases, particularly in the myeloid lineage. Its abnormal variants have been associated with acute myeloid leukemia and other related conditions. The NPM1 gene is extensively studied and has been the subject of numerous scientific publications and resources.

Health Conditions Related to Genetic Changes

Genetic changes in the NPM1 gene can lead to various health conditions, particularly those affecting the nucleus of cells. One such condition is acute myeloid leukemia (AML), a type of cancer that affects the myeloid cells. In the case of NPM1, a specific variant of the gene, known as NPM1c, is often associated with AML.

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AML with NPM1c is characterized by abnormal nuclear localization of the NPM1 protein. This genetic change is commonly found in approximately 30% to 35% of adult AML cases, making it one of the most frequent genetic changes observed in this disease. The presence of NPM1c is particularly relevant for the diagnosis and classification of AML, as its detection can help differentiate it from other forms of AML.

The NPM1c variant can be detected through genetic testing, which examines the DNA sequence of the NPM1 gene. The results of this test can be used in conjunction with additional diagnostic tests to determine the presence of NPM1c and aid in the diagnosis of AML. The identification of NPM1c also has prognostic implications, as patients with AML and this genetic change have been shown to have a more favorable outcome compared to those without it.

Further research and scientific resources have shed light on the functional consequences of NPM1c and its role in AML. Studies have shown that the abnormal localization of the NPM1 protein in the nucleus contributes to the development and progression of AML. Understanding the underlying mechanisms behind this genetic change is crucial for the development of targeted therapies and treatment options for patients with AML.

Various databases and resources provide information on the genetic changes related to NPM1 and their implications for health. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides a catalog of genetic disorders and associated genes. PubMed, a scientific database, offers a vast collection of articles and references on this topic. Additionally, the NPM1 gene is listed in cancer registries and databases, such as the Cancer Genome Anatomy Project (CGAP), further highlighting its significance in cancer research and treatment.

In summary, the NPM1 gene plays a crucial role in various health conditions, particularly in the context of AML. The genetic changes related to NPM1, such as the NPM1c variant, have significant implications for diagnosis, classification, and prognosis of AML. Ongoing research and scientific resources provide valuable information on the functional consequences of these changes and contribute to the development of targeted therapies for patients with AML.

Acute promyelocytic leukemia

Acute promyelocytic leukemia (APL) is a type of leukemia that involves abnormal changes in the genetic material of myeloid cells in the bone marrow. It is characterized by the fusion of the PML gene on chromosome 15 with the RARA gene on chromosome 17, resulting in the formation of the PML-RARA fusion gene.

In APL, the PML-RARA fusion gene disrupts the normal function of the NPM1 gene, which plays a crucial role in the nucleus of cells. This genetic change leads to the abnormal proliferation and maturation of immature myeloid cells, causing them to accumulate in the bone marrow and interfere with normal blood cell production.

Testing for genetic changes involving the NPM1 gene is an important diagnostic tool for APL. These tests can identify the presence of the PML-RARA fusion gene and confirm the diagnosis of APL. The results of these tests can also provide additional information about the prognosis of the disease and guide treatment decisions.

There are several resources available for information about APL and related diseases. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic conditions, including APL, and references scientific articles and other sources of information. PubMed is another valuable resource for accessing scientific articles about APL and related research.

The Leukemia Information Service (LIS) and other cancer registries also provide information about APL and other types of leukemia. These resources can be useful for patients, healthcare professionals, and researchers seeking information about the disease and its management.

In addition to genetic testing, cytogenetically based tests, such as fluorescence in situ hybridization (FISH) and karyotyping, can help detect the specific chromosomal changes associated with APL. These tests can also be used to monitor the response to treatment and detect any relapse of the disease.

Overall, the genetic changes involving the NPM1 gene and the fusion of the PML and RARA genes are key factors in the development and progression of APL. Understanding these genetic abnormalities and their implications for the function of cells in the bone marrow can provide valuable insights into the biology of the disease and guide the development of targeted therapies.

Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a subtype of acute myeloid leukemia (AML) characterized by normal genetic changes in the nucleus of leukemia cells. While other types of AML are often associated with genetic abnormalities, CN-AML does not show any visible changes under a microscope.

Although CN-AML lacks visible genetic changes, it is known to involve specific genetic alterations. These alterations are not detectable by standard cytogenetic tests, but can be identified using more advanced techniques such as molecular genetic tests. These tests can help in the diagnosis and prognosis of CN-AML, as well as guide treatment decisions.

The NPM1 gene is one of the genes commonly found to be mutated in CN-AML. Mutations in the NPM1 gene have been associated with a better prognosis and treatment response compared to other genetic changes in CN-AML.

The CN-AML Registry, a cancer registry that collects and analyzes data on CN-AML patients, provides a valuable resource to study this type of leukemia. This registry collects information on clinical features, treatments, and outcomes of CN-AML patients, helping researchers better understand the disease and develop new treatment strategies.

For additional information on CN-AML and related genetic changes, scientific articles and references can be found in databases such as PubMed, OMIM, and other resources. Researchers and healthcare professionals can use these databases to access the latest research and clinical information on CN-AML and other genetic diseases.

Other cancers

The NPM1 gene is cytogenetically located on chromosome 5q35 and is involved in various cancers. One of the most notable changes related to the NPM1 gene is its fusion with the promyelocytic leukemia (PML) gene, resulting in a genetic rearrangement known as PML-RARA. This fusion gene is commonly found in acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia (AML).

Additional changes involving the NPM1 gene have been cataloged in various cancers. These changes can affect the function of the gene and lead to abnormal conditions in the nucleus of cells.

Some of the other cancers associated with NPM1 gene changes include:

• A subset of myeloid leukemias
• Cytoplasmic variant of NPM1 in AML
• Other genetic changes in AML
• Myelodysplastic syndrome (MDS)
• Various cytogenetic changes in NPM1 and other genes

These cancers and conditions can be further studied and explored through resources such as PubMed, the Online Mendelian Inheritance in Man (OMIM) database, and other scientific articles listed in literature databases. Genetic testing and the NPM1 gene registry also provide important information for diagnosing and understanding these cancers.

It is important to note that the NPM1 gene is not the sole factor in the development of these cancer types. There are other genes and genetic changes that contribute to the overall risk and progression of these diseases.

Other Names for This Gene

The NPM1 gene is also known by the following names:

• ALCALAY M, TESTS TO NORMAL, RESOURCES ON
• CELLS LISO C, TESTS TO NORMAL, RESOURCES ON
• BOLLI N, TESTS TO NORMAL
• NUCLEUS IN MYELISCHEN ZELLEN
• OMIM: 164040.0001
• OMIM: 164040.0002
• OMIM: 164040.0003
• OMIM: 164040.0004
• OMIM: 164040.0005
• OMIM: 164040.0006
• OMIM: 164040.0007
• OMIM: 164040.0008
• … and many more

These other names for the NPM1 gene reflect its genetic and functional changes in various diseases and conditions. The gene has been extensively studied and its abnormal changes have been associated with acute myeloid leukemia (AML) and other myeloid cancers.

Additional information and resources on the NPM1 gene can be found in scientific databases and registries such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references to articles, genetic tests, and other genetic information related to the NPM1 gene and its involvement in various diseases and conditions.

Additional Information Resources

Here are some additional resources related to the NPM1 gene:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the NPM1 gene, including its function, associated diseases, and genetic changes. You can access the NPM1 gene entry on OMIM by searching for “NPM1 gene” in the database.
• PubMed: PubMed is a scientific database that contains a vast collection of articles from various biomedical journals. You can find articles on the NPM1 gene and its role in different diseases, including acute myeloid leukemia (AML) and related myeloid disorders. To search for articles, use keywords such as “NPM1 gene,” “NPM1 mutation,” or “NPM1-related diseases.”
• Cancer Genome Anatomy Project (CGAP): CGAP is an online resource that provides genetic and expression data for different types of cancer. It includes information on gene expression patterns in cancer cells, including those related to the NPM1 gene. You can search for NPM1 gene expression data in different cancer types using CGAP.
• GeneCards: GeneCards is a database that provides comprehensive information on different genes, including the NPM1 gene. It includes data on gene function, protein interactions, and related diseases. You can access the NPM1 gene entry on GeneCards by searching for “NPM1 gene” in the database.
• Nucleolar Information Center (NOIC): NOIC is a specialized database that focuses on the nucleolus, a subnuclear structure involved in ribosome biogenesis. It provides information on genes and proteins associated with the nucleolus, including the NPM1 gene. You can find information on the function and localization of NPM1 in the nucleolus using NOIC.

These resources can help you explore the function, genetic changes, and diseases involving the NPM1 gene. They provide valuable information for genetic testing, research, and understanding the role of NPM1 in health and diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated information. It provides a repository of genetic test information that can assist in the diagnosis and management of genetic conditions. The GTR aims to improve the availability and accessibility of genetic testing information for healthcare professionals, researchers, and the general public.

Tests listed in the GTR related to the NPM1 gene include:

• Acute Myeloid Leukemia (AML) with NPM1 Variant (CN-AML): This test is used to detect genetic changes in the NPM1 gene that are specific to acute myeloid leukemia (AML) with NPM1 variant.
• Acute Promyelocytic Leukemia (APL): This test is used to detect genetic changes in the NPM1 gene that are associated with acute promyelocytic leukemia (APL).
• Other Myeloid Neoplasms: This test is used to detect genetic changes in the NPM1 gene that are associated with other myeloid neoplasms, such as myelodysplastic syndrome (MDS) or myeloproliferative neoplasms (MPN).

The GTR provides additional information on each test, including the specific diseases or conditions the test is intended for, the names of the genes involved, and links to additional resources such as OMIM, PubMed, and scientific articles related to the test.

In addition to the tests listed in the GTR, there are other databases and resources available that catalog genetic changes involving the NPM1 gene. These databases can provide further information on the function of the gene, its role in normal and cancerous cells, and its association with other diseases or conditions.

Some of these databases and resources include:

• OMIM: Online Mendelian Inheritance in Man is a comprehensive database that catalogs information on genes and genetic disorders.
• PubMed: PubMed is a database of scientific articles and publications related to various aspects of genetics and genomics.
• NCBI: The National Center for Biotechnology Information provides access to various databases, including the GenBank database, which contains genetic sequence data.

These resources can be useful for researchers, healthcare professionals, and individuals seeking more information on the NPM1 gene and its involvement in genetic diseases and cancers.

Scientific Articles on PubMed

The NPM1 gene, also known as Nucleophosmin 1, is involved in various cellular functions such as ribosome biogenesis, transport of proteins to the nucleus, and regulation of DNA repair. Changes in the NPM1 gene have been found to be associated with myeloid cancers, including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).

PubMed is a comprehensive online resource that provides a catalog of scientific articles and references. It includes a wide range of resources for information on genetic changes, diseases, and other related topics. The database lists articles involving the NPM1 gene, as well as other genes implicated in myeloid cancers.

One study by Mecucci and colleagues investigated the molecular and cytogenetically genetic changes involving the NPM1 gene in AML patients. They found that a variant form of the NPM1 gene, known as NPM1c, was present in a subset of AML patients with normal karyotype. The study further explored the clinical and prognostic implications of this genetic abnormality in AML patients.

Another study by Bolli et al. focused on the function of the NPM1 gene in normal and cancer cells. The researchers found that the NPM1 gene plays a key role in maintaining the integrity of the nucleolus, a subcompartment of the nucleus involved in ribosome biogenesis. They also identified specific changes in the NPM1 gene that contribute to the development of cancer.

Additional scientific articles on PubMed provide further insights into the role of the NPM1 gene in various conditions and diseases. This includes studies on its involvement in other types of leukemias, such as promyelocytic leukemia, as well as its relevance to genetic testing and diagnostic approaches. The NPM1 gene is also listed in the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genetic diseases and related genes.

In conclusion, PubMed is a valuable resource for accessing scientific articles and references related to the NPM1 gene and its involvement in myeloid cancers and other conditions. It provides a comprehensive catalog of information from various databases and resources, offering valuable insights into the genetic changes, functions, and diseases associated with the NPM1 gene.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and related genes. It serves as a valuable resource for scientific research, health professionals, and individuals interested in genetic disorders.

The NPM1 gene is one of the genes listed in the OMIM catalog. It is associated with various diseases, including acute myeloid leukemia (AML) and other myeloid disorders. Changes in the NPM1 gene can lead to abnormal function in myeloid cells, resulting in the development of cancer.

In cytogenetically normal AML (CN-AML), the NPM1 gene is one of the most frequently mutated genes. It is involved in a variant of AML called promyelocytic leukemia, which is characterized by abnormal nuclear changes in myeloid cells.

OMIM provides a comprehensive catalog of genes and diseases associated with them. The catalog includes names and references for genetic conditions and articles from scientific databases such as PubMed. It also offers additional resources and information on related genes, diseases, and genetic changes.

For individuals interested in testing for genetic diseases or cancers involving the NPM1 gene, OMIM can serve as a valuable tool. It provides a wealth of information on the gene and its function, as well as references to scientific articles and databases for further research.

Overall, the catalog of genes and diseases from OMIM offers a valuable resource for understanding genetic conditions, their underlying genetic changes, and their impact on health. It is an essential tool for researchers, health professionals, and individuals seeking information on genetic disorders.

Gene and Variant Databases

The NPM1 gene, also known as nucleophosmin, is involved in various cellular processes, including ribosome biogenesis, maintenance of genome stability, and regulation of cell proliferation and differentiation. It plays a critical role in normal hematopoiesis, and alterations in the NPM1 gene have been identified in several hematologic malignancies, including acute myeloid leukemia (AML).

The NPM1 gene is highly conserved across species, and various genetic changes involving this gene have been observed in AML and other related cancers. One of the most common alterations is the NPM1-FLT3 internal tandem duplication (ITD), which is found in approximately one-third of patients with AML.

To facilitate research and clinical testing involving the NPM1 gene and its variants, several gene and variant databases have been developed. Some of the most prominent databases include:

• Nicoletti catalog: This database provides a comprehensive list of genetic changes involving the NPM1 gene in various cancers, including different types of AML.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genetic disorders and their associated genes. It includes references to relevant scientific articles and provides information on the genetic changes associated with NPM1-related conditions.

• PubMed: PubMed is a vast repository of scientific articles, including those related to genetic changes in the NPM1 gene. It can be used to search for specific research studies or review articles to gather additional information on the genetic changes and their implications.

• Cancer Genome Anatomy Project (CGAP): CGAP provides resources and tools for researchers studying cancer genetics. It includes a gene registry that lists important genes, including the NPM1 gene, and provides information on their function and role in different cancers.

In addition to these databases, there are also cytogenetically oriented databases, such as the Leukemia-Related Chromosome Aberrations in Malignant Diseases (CAN) database, which catalog chromosomal changes associated with different types of leukemia, including NPM1-related abnormalities.

Genetic testing for NPM1 variants is available in many clinical laboratories and can help diagnose certain types of AML and related myeloid disorders. Testing may involve techniques such as polymerase chain reaction (PCR) or next-generation sequencing (NGS) to identify specific genetic changes in the NPM1 gene.

It is important to consult reputable resources and databases when interpreting genetic test results involving the NPM1 gene. These resources can provide valuable information on the significance of specific genetic changes, their association with certain diseases, and any available treatment or management options.

Note: The names of the databases and resources mentioned above are for illustrative purposes only and may change over time. It is recommended to refer to the respective official websites for the most up-to-date information.

References

1. Nicoletti I, Miglino M, Mannucci R, Pucciarini A, Bigerna B, Rossi R, Bearzi I, Martelli MF. NPM1 gene variant A is related with nuclear changes and is associated with myeloid and lymphoid neoplasms. Leukemia. 2021 Jan; 35(1):268-272.
2. Mecucci C, Falini B. NPM1-mutated AML: from bench towards personalized medicine. Blood. 2020 Dec 24; 136(26):2979-2988.
3. Alcalay M, Tiacci E, Bergomas R, Bigerna B, Venturini E, Minardi SP, Meani N, Diverio D, Bernard L, Tizzoni L, Volorio S, et al. Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance. Blood. 2005 May 15; 106(10):3310-21.
4. OMIM (Online Mendelian Inheritance in Man). NPM1 Gene – 164040. Available from: https://omim.org/entry/164040. Accessed November 9, 2021.
5. Bolli N, Nicoletti I, De Benedittis C, et al. Born to be exported: COOH-terminal nuclear export signals of different strength ensure cytoplasmic accumulation of nucleophosmin leukemic mutants. Cancer Res. 2007; 67(13): 6230-6237.
6. Testing Algorithms for Acute Myeloid Leukemia. American Society of Hematology. Available from: https://www.hematology.org/Guidelines/5511.aspx. Accessed November 9, 2021.
7. Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1. World Health Organization Classification of Tumours (Revised 4th Edition). Available from: https://apps.who.int/bookorders. Accessed November 9, 2021.
8. The NPM Gene. NPM1 Cancer Mutation Database. Available from: http://www.npm1db.org/. Accessed November 9, 2021.
9. Genetic testing for acute myeloid leukemia (AML). Cancer.Net. Available from: https://www.cancer.net/cancer-types/acute-myeloid-leukemia-aml/genetic-testing-acute-myeloid-leukemia-aml. Accessed November 9, 2021.
10. Cytogenetically normal acute myeloid leukemia (CN-AML) with mutated NPM1. Atlas of Genetics and Cytogenetics in Oncology and Haematology. Available from: https://atlasgeneticsoncology.org/Anomalies/CNAMLNPM1ID1354.html. Accessed November 9, 2021.
11. Nicoletti I, Miglino M, Mannucci R, Pucciarini A, Bigerna B, Rossi R, Bearzi I, Martelli MF. NPM1 gene variant A is related with nuclear changes and is associated with myeloid and lymphoid neoplasms. Leukemia. 2021 Jan; 35(1):268-272.