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Items: 11

1.

Retinoblastoma

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. [from GeneReviews]

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
2.

Hereditary retinoblastoma

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities affecting the RB1 gene. Patients with the inherited form appear to be at increased risk for secondary non-ocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. [from NCI]

MedGen UID:
155869
Concept ID:
C0751483
Neoplastic Process
3.

Retinal neuroblastoma

A neuroblastoma arising from the retina. [from NCI]

MedGen UID:
1830429
Concept ID:
C5779888
Neoplastic Process
4.

Oligoastrocytoma

Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage. [from ORDO]

MedGen UID:
154285
Concept ID:
C0547065
Neoplastic Process
5.

Retina neoplasm

A tumor (abnormal growth of tissue) of the retina. [from HPO]

MedGen UID:
101180
Concept ID:
C0524801
Neoplastic Process
6.

Protoplasmic astrocytoma

A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) [from NCI]

MedGen UID:
87268
Concept ID:
C0334580
Neoplastic Process
7.

Glioblastoma

Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification). [from ORDO]

MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
8.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
9.

Neoplasm of the eye

A tumor (abnormal growth of tissue) of the eye. [from HPO]

MedGen UID:
5095
Concept ID:
C0015414
Neoplastic Process
10.

Astrocytoma

Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. [from HPO]

MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
11.

Proneural glioblastoma

A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. [from NCI]

MedGen UID:
821212
Concept ID:
C3828464
Neoplastic Process
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