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Items: 10

1.

Leukemia

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

MedGen UID:
505002
Concept ID:
CN001727
Finding
2.

Myeloid leukemia

A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [from HPO]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
3.

Myeloproliferative syndrome, transient

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. [from NCI]

MedGen UID:
331782
Concept ID:
C1834582
Finding; Neoplastic Process
4.

Desquamative interstitial pneumonia

Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). See also usual interstitial pneumonitis (UIP; see 178500), which is associated with pulmonary fibrosis. Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001). With the advent of molecular genetic analysis, some cases of familial early-onset respiratory insufficiency associated with a pathologic diagnosis of DIP have been shown to result from congenital dysfunction of surfactant metabolism (see, e.g., SMDP1, 265120) due to mutations in genes involved in surfactant metabolism (Nogee et al., 2001; Whitsett and Weaver, 2002). [from OMIM]

MedGen UID:
65962
Concept ID:
C0238378
Disease or Syndrome
5.

Malignant lymphoma, large B-cell, diffuse

A type of B-cell non-Hodgkin lymphoma (cancer of the immune system) that is usually aggressive (fast-growing). It is the most common type of non-Hodgkin lymphoma, and is marked by rapidly growing tumors in the lymph nodes, spleen, liver, bone marrow, or other organs. Other symptoms include fever, night sweats, and weight loss. There are several subtypes of diffuse large B-cell lymphoma. [from NCI]

MedGen UID:
86954
Concept ID:
C0079744
Neoplastic Process
6.

Lymphoma

Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
7.

Myeloproliferative disorder

Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. [from HPO]

MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
8.

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 GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
9.

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
10.

Malignant lymphoma, non-Hodgkin

A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. [from HPO]

MedGen UID:
6160
Concept ID:
C0024305
Neoplastic Process
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