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1.

Acute myeloid leukemia

CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and older than age 45 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones. [from GTR]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
2.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [from HPO]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
3.

Acute myeloid leukemia

A form of leukemia characterized by overproduction of an early myeloid cell. [from HPO]

MedGen UID:
505691
Concept ID:
CN004254
Finding
4.

Therapy-Related Acute Myeloid Leukemia

An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation. (WHO, 2001) [from NCI]

MedGen UID:
237008
Concept ID:
C1336735
Neoplastic Process
5.

Myeloid leukemia

A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. [from NCI]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
6.

Topoisomerase-II Inhibitor

Any substance that inhibits topoisomerase-II, a topoisomerase that relieves torsional stress in a DNA molecule by cutting both strands of the DNA double helix. A topoisomerase II inhibitor can either stabilize the DNA-protein complex or inhibit the catalytic activity of the enzyme. Inhibition of topoisomerase-II causes DNA damage, inhibition of DNA replication, and apoptosis. [from NCI]

MedGen UID:
275487
Concept ID:
C1519554
Pharmacologic Substance
7.

Rituximab

A murine-derived monoclonal antibody and ANTINEOPLASTIC AGENT that binds specifically to the CD20 ANTIGEN and is used in the treatment of LEUKEMIA; LYMPHOMA and RHEUMATOID ARTHRITIS. [from MeSH]

MedGen UID:
95963
Concept ID:
C0393022
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
8.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
9.

Fludarabine

A fluorinated nucleotide antimetabolite analog of the antiviral agent vidarabine (ara-A) with antineoplastic activity. Administered parenterally as a phosphate salt, fludarabine phosphate is rapidly dephosphorylated to 2-fluoro-ara-A and then phosphorylated intracellularly by deoxycytidine kinase to the active triphosphate, 2-fluoro-ara-ATP. This metabolite may inhibit DNA polymerase alpha, ribonucleotide reductase and DNA primase, thereby interrupting DNA synthesis and inhibiting tumor cell growth. (NCI04) [from NCI]

MedGen UID:
16329
Concept ID:
C0059985
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
10.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for "cancer." [from MeSH]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
11.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
12.

Acute lymphoblastic leukemia

A form of acute leukemia characterized by excess lympoblasts. [from HPO]

MedGen UID:
505958
Concept ID:
CN005851
Finding
13.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
505322
Concept ID:
CN002422
Finding
14.

Small Lymphocytic Lymphoma

A non-Hodgkin lymphoma composed of monomorphic small, round B-lymphocytes in the lymph nodes. When the lymphoid process predominantly involves the bone marrow and the peripheral blood it is called chronic lymphocytic leukemia. (WHO, 2001) [from NCI]

MedGen UID:
163602
Concept ID:
C0855095
Neoplastic Process
15.

Breast carcinoma

A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. [from NCI]

MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
16.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
17.

Chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559). [from GTR]

MedGen UID:
44120
Concept ID:
C0023434
Neoplastic Process
18.

Acute leukemia

A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). [from NCI]

MedGen UID:
43225
Concept ID:
C0085669
Neoplastic Process
19.

Acute lymphoid leukemia

Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009). Genetic Heterogeneity of Acute Lymphoblastic Leukemia A susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (613067), which has been mapped to chromosome 7p12.2; and ALL3 (615545), which is caused by mutation in the PAX5 gene (167414) on chromosome 9p. [from GTR]

MedGen UID:
7317
Concept ID:
C0023449
Neoplastic Process
20.

Adenoscan

MedGen UID:
810650
Concept ID:
C0718262
Organic Chemical; Pharmacologic Substance
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