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Items: 14

1.

Peripheral Nerve Sheath Tumors

MedGen UID:
199711
Concept ID:
C0751689
Neoplastic Process
2.

Malignant peripheral nerve sheath tumor

A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. [from HPO]

MedGen UID:
155614
Concept ID:
C0751690
Neoplastic Process
3.

Neurofibroma

An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. [from NCI]

MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
4.

Neurofibromatosis-Noonan syndrome

A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. [from SNOMEDCT_US]

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
5.

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
6.

Perineurial Malignant Peripheral Nerve Sheath Tumor

A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. [from NCI]

MedGen UID:
220432
Concept ID:
C1266188
Neoplastic Process
7.

Plexiform neurofibroma

A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. [from HPO]

MedGen UID:
64640
Concept ID:
C0206728
Neoplastic Process
8.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
9.

Neurofibromas

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) [from MeSH]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
10.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GTR]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
11.

Perivascular spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [from HPO]

MedGen UID:
892388
Concept ID:
C4020719
Anatomical Abnormality
12.

Perivascular spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [from HPO]

MedGen UID:
342926
Concept ID:
C1853618
Finding
13.

Malignant Conversion

The transformation of a cell or cell population from a pre- or non-malignant condition to a malignant condition. (NCI) [from NCI]

MedGen UID:
276530
Concept ID:
C1518171
Neoplastic Process
14.

Diffuse Pattern

A morphologic architectural pattern in which a cellular population is distributed in a relatively uniform fashion throughout a specified tissue area; not focal. [from NCI]

MedGen UID:
232129
Concept ID:
C1333299
Finding
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