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1.

Leukemia

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
2.

Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive

An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). [from NCI]

MedGen UID:
2281
Concept ID:
C0005699
Neoplastic Process
3.

Error occurred: cannot get document summary

ID:
1463801

4.

Error occurred: cannot get document summary

ID:
1463763

5.

Error occurred: cannot get document summary

ID:
1461842

6.

Crisis

MedGen UID:
533658
Concept ID:
C0231224
Finding
7.

Chronic myelogenous leukemia

MedGen UID:
505815
Concept ID:
CN004875
Finding
8.

Chronic myeloid leukemia

Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets.Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason.The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.
[from GHR]

MedGen UID:
7321
Concept ID:
C0023473
Neoplastic Process
9.

Myeloid leukemia

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
10.

Clonal Evolution

The process by which a normal cell accumulates genetic changes that allow it to become a tumor-causing cell and furthers its development to more malignant states. [from NCI]

MedGen UID:
273181
Concept ID:
C1516669
Neoplastic Process
11.

Acute megakaryoblastic leukemia

MedGen UID:
44124
Concept ID:
C0023462
Neoplastic Process
12.

Acute myeloid leukemia

CEBPA- associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germlineCEBPApathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadicCEBPA-associated AML is defined as AML in which aCEBPApathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals withCEBPA-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 ofCEBPA-associated familial AML appears to be favorable compared with sporadicCEBPA-associated AML. Individuals withCEBPA-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 GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
13.

Error occurred: cannot get document summary

ID:
1463755

14.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
15.

Abnormality of blood and blood-forming tissues

MedGen UID:
893091
Concept ID:
C4020864
16.

Extramedullary Involvement

A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm. [from NCI]

MedGen UID:
887364
Concept ID:
C4055047
Finding
17.

Undiagnosed pathologic process

MedGen UID:
810824
Concept ID:
C1408353
Finding
18.

Acute megakaryocytic leukemia

MedGen UID:
505962
Concept ID:
CN005861
Finding
19.

Acute myeloid leukemia

MedGen UID:
505691
Concept ID:
CN004254
Finding
20.

Complex Karyotype

Karyotype with at least three chromosomal aberrations. [from NCI]

MedGen UID:
474886
Concept ID:
C3273253
Cell or Molecular Dysfunction
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