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1.

Malignant melanoma

A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) [from MeSH]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
2.

Melanoma

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

MedGen UID:
505377
Concept ID:
CN002586
Finding
3.

Nevus

A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin. [from MeSH]

MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
4.

Melanocytic nevus

A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. [from NCI]

MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
5.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
6.

Hyperplasia

An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. [from NCI]

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
7.

Frequency

MedGen UID:
1381421
Concept ID:
C4321352
Intellectual Product
8.

Melanocytic hyperplasia

MedGen UID:
569508
Concept ID:
C0334011
Pathologic Function
9.

Cutaneous malignant melanoma 1

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003). [from GTR]

MedGen UID:
320506
Concept ID:
C1835047
Finding
10.

Transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
11.

Sun Exposure

The exposure to incident light from the sun. [from NCI]

MedGen UID:
264140
Concept ID:
C1456711
Finding
12.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
13.

Superficial spreading melanoma

A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. [from HPO]

MedGen UID:
87242
Concept ID:
C0334438
Neoplastic Process
14.

Mitogen

A soluble substance, usually a protein, that induces mitosis in resting cells, thereby causing cell proliferation. [from NCI]

MedGen UID:
7665
Concept ID:
C0026249
Pharmacologic Substance
15.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
16.

Neuroendocrine neoplasm

A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma. [from NCI]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
17.

Nevi and Melanomas

A collective term for the various types of nevi and melanomas. [from MeSH]

MedGen UID:
61679
Concept ID:
C0206769
Neoplastic Process
18.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
19.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
20.

Embryonal neoplasm

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 [from NCI]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
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