Molecular Factors Discussed

Molecular Factor

Chromosomal Location

Definition/Alternative Names

Chapters

β-catenin (see CTNNB1)

1, loss of

Prolactinoma

10, loss of

Ganglion Cell Tumors; Glioblastoma; Meningioma; Papillary Tumor of the Pineal Region

10q, gain of

Central Neurocytoma

10q, loss of

Ependymoma; Glioblastoma; Medulloblastoma

11, loss of

Prolactinoma

11q, gain of

Central Neurocytoma

11q13

Adipositic Neoplasms; Pituitary Adenoma

11q22

BCR

Soft Tissue Perineurioma

12, gain of

Ganglion Cell Tumors; Papillary Tumor of the Pineal Region

12p, gain of

Other Germ Cell Tumors; Ependymoma; Meningioma

12q, loss of

Central Neurocytoma

12q13-15, alterations of

Adipositic Neoplasms

13, loss of

Prolactinoma

13q, loss of

Ependymoma

14q, gain of

Pituitary Carcinoma

14q, loss of

Meningioma; Solitary Fibrous Tumor, Hemangiopericytoma Type

15q, gain of

Meningioma

16p, loss of

Ependymoma

16q, alterations of

Adipositic Neoplasms

17, loss of

Ependymoma

17p, loss of

Central Neurocytoma; Medulloblastoma

17q, gain of

Medulloblastoma; Meningioma

17q, loss of

Central Neurocytoma

17q, rearrangements of

Pituitary Adenoma

17q11.2

NF1

Plexiform Neurofibroma

18q, gain of

Central Neurocytoma

18q, loss of

Meningioma

19, gain of

Astroblastoma

19p, gain of

CNS Primitive Neuroectodermal Tumor

19q13.41 microRNA polycistron

CNS Primitive Neuroectodermal Tumor

19q13.42

Embryonal Tumor with Abundant Neuropil and True Rosettes

1p, loss of

Central Neurocytoma; Ependymoma; Meningioma; Solitary Fibrous Tumor, Hemangiopericytoma Type

1p/19q

Anaplastic Astrocytoma; Anaplastic Oligodendroglioma; CNS Primitive Neuroectodermal Tumor; Diffuse Astrocytoma; Dysembryoplastic Neuroepithelial Tumor; Extraventricular Neurocytoma; Ganglion Cell Tumors; Glioblastoma; Gliomatosis Cerebri; Lymphomatosis Cerebri; Metastatic Neoplasms, Intraparenchymal, Brain and Spinal Cord; Mixed Oligoastrocytoma; Oligodendroglioma; Papillary Glioneuronal Tumor; Pilocytic Astrocytoma; Rosette-Forming Glioneuronal Tumor of the 4th Ventricle

1q, gain of

CNS Primitive Neuroectodermal Tumor; Ependymoma; Meningioma

2, loss of

Prolactinoma

20, gain of

Ependymoma

20p, loss of

Central Neurocytoma

20q, gain of

Astroblastoma; Meningioma

20q13.2

Pituitary Adenoma

21, loss of

Ependymoma

22, loss of

Ganglion Cell Tumors

22q, loss of

Ependymoma; Papillary Tumor of the Pineal Region; Solitary Fibrous Tumor, Hemangiopericytoma Type

22q11

Intraneural Perineurioma

2p, gain of

Central Neurocytoma; CNS Primitive Neuroectodermal Tumor

2p16

Pituitary Adenoma

3, gain of

Papillary Tumor of the Pineal Region

3, loss of

Ependymoma

4, gain of

Papillary Tumor of the Pineal Region

4q, gain of

Ependymoma; Prolactinoma

5, gain of

Ependymoma; Ganglion Cell Tumors; Pituitary Carcinoma

5q, gain of

Prolactinoma

6, gain of

Pineal Anlage Tumor

6, loss of

Medulloblastoma

6q, loss of

Central Neurocytoma; Ependymoma; Meningioma

6q27

Osteocartilaginous Neoplasms

7, gain of

Diffuse Astrocytoma; Ependymoma; Ganglion Cell Tumors; Glioblastoma; Mixed Oligoastrocytoma; Papillary Glioneuronal Tumor

7, loss of

Ependymoma

7p, gain of

Pituitary Carcinoma

7p, loss of

Meningioma

8, gain of

Ependymoma; Ganglion Cell Tumors; Papillary Tumor of the Pineal Region

8q, alterations of

Adipositic Neoplasms

9, gain of

Ependymoma; Papillary Tumor of the Pineal Region

9, loss of

Ganglion Cell Tumors

9p, loss of

Ependymoma

9q, gain of

Meningioma

ALK

2p23

anaplastic lymphoma receptor tyrosine kinase; CD246

Inflammatory Pseudotumors

APC

5q21

adenomatosis polyposis coli

Cerebellar Liponeurocytoma; Medulloblastoma; Turcot Syndrome

AXIN1/2

16p13.3/17q23-q24

axin 1/2

Medulloblastoma

BRAF

7q34

v-raf murine sarcoma viral oncogene homolog B1

Ganglion Cell Tumors; Pilocytic Astrocytoma; Pilomyxoid Astrocytoma

CCM2

7p13

cerebral cavernous malformation 2; MGC4607

Cavernous Angioma

CD99

Xp22.32 and Yp11.3

MIC2

CNS Primitive Neuroectodermal Tumor; Osteocartilaginous Neoplasms

CDKN1B

12p13.1-p12

cyclin-dependent kinase inhibitor 1B; P27

Pituitary Adenoma

CDKN2A

9p21

cyclin-dependent kinase inhibitor 2A; P16; P16INK4

CNS Primitive Neuroectodermal Tumor; Pituitary Adenoma

CDKN2C

1p32

cyclin-dependent kinase inhibitor 2C; P18; P18INK4C

Pituitary Adenoma

c-MYC (see MYC)

CTNNB1

3p21

catenin (cadherin-associated protein), beta 1; β-catenin; beta-catenin

Adamantinomatous Craniopharyngioma; Medulloblastoma; Cerebellar Liponeurocytoma

der(1;19)(q10;p10)

Oligodendroglioma

der(13;21)(q10;q10)

Osteocartilaginous Neoplasms

DICER1

14q32.13

dicer 1, ribonuclease type III

Pituitary Blastoma

E1AF (see ETV4)

EGFR

7p12

epidermal growth factor receptor; ERBB1; HER1

Central Neurocytoma; Glioblastoma; Gliosarcoma; Metastatic Neoplasms, Intracranial and Intraspinal Meninges; Papillary Glioneuronal Tumor

ETV1

7p21.3

ets variant 1

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

ETV4

17q21

ets variant 4

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

EWS (see EWSR1)

EWS/FLI1

t(11;22)(q24;q12)

Osteocartilaginous Neoplasms

EWS-ERG

t(21;22)(q22.3;q12.2)

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

EWS-FLI1

t(11;22)(q24;q12)

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

EWSR1

22q12

Ewing sarcoma breakpoint region 1

CNS Primitive Neuroectodermal Tumor; Osteocartilaginous Neoplasms; Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

EWS-WT1

t(11;22) (p13;q12)

Osteocartilaginous Neoplasms

FAM129A

1q25

family with sequence similarity 129, member A

CNS Primitive Neuroectodermal Tumor

FEV

2q36

FEV (ETS oncogene family)

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

GH

17q24.2

growth hormone 1;GH1

Somatotroph Adenoma

GLI

12q13.2-q13.3

GLI family zinc finger 1

Medulloblastoma

HGF

7q21.1

hepatocyte growth factor; hepapoietin A; scatter factor

Primary Melanocytic Neoplasms

HMGA2

12q15

high mobility group AT-hook 2

Lipoma of the 8th Cranial Nerve

HOXB13

17q21.2

homeobox B13

Myxopapillary Ependymoma

HRAS

11p15.5

v-Ha-ras Harvey rat sarcoma viral oncogene homolog

Pituitary Carcinoma

i(12p)

isochromosome 12p

Other Germ Cell Tumors

i(17q)

isochromosome 17q

Cerebellar Liponeurocytoma; CNS Primitive Neuroectodermal Tumor; Medulloblastoma; Pineal Anlage Tumor

IDH1

2q33.3

isocitrate dehydrogenase 1 (NADP+), soluble

CNS Primitive Neuroectodermal Tumor; Diffuse Astrocytoma; Glioblastoma; Gliomatosis Cerebri; Mixed Oligoastrocytoma; Oligodendroglioma

IDH1/2

2q33.3 & 15q26.1

isocitrate dehydrogenase enzyme isoform 1/2

Extraventricular Neurocytoma; Ganglion Cell Tumors

IDH2

15q26.1

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Mixed Oligoastrocytoma

IGH

14q32.33

immunoglobulin heavy locus

Osteocartilaginous Neoplasms; Primary Angiitis of the Central Nervous System

INI1 (see SMARCB1)

Ki-67 (see MKI67)

MKI67

10q26.2

antigen identified by monoclonal antibody Ki-67; KIA

Medulloblastoma; Pilocytic Astrocytoma

KIAA1549

7q34

unknown gene

Pilocytic Astrocytoma; Pilomyxoid Astrocytoma; Ganglion Cell Tumors

KRIT1

7q21.2

ankyrin repeat containing

Cavernous Angioma

MEG3

14q32

maternally expressed 3

Meningioma

MEN1

11q13

multiple endocrine neoplasia I

Somatotroph Adenoma

MGC4607 (see CCM2)

MGMT

10q26

O-6-methylguanine-DNA methyltransferase

Glioblastoma

MIC2 (see CD99)

MLH1

3p21.3

mutL homolog 1

Turcot Syndrome

MLL2

12q13.12

myeloid/lymphoid or mixed-lineage leukemia 2

Medulloblastoma

MLL3

7q36.1

myeloid/lymphoid or mixed-lineage leukemia 3

Medulloblastoma

Monosomy 22

Meningioma

Monosomy 6

Cerebellar Liponeurocytoma; Medulloblastoma

MSH2

2p16

mutS homolog 2

Turcot Syndrome

MSH3

5q11

mutS homolog 3

Turcot Syndrome

MYC

8q24

v-myc myelocytomatosis viral oncogene homolog

Glioblastoma; Gliosarcoma; Medulloblastoma

MYCN

2p24.3

v-myc myelocytomatosis viral related oncogene, neuroblastoma derived

Medulloblastoma; Glioblastoma

NDRG2

14q11.2

NDRG family member 2

Meningioma

NEFL

8p21

neurofilament, light polypeptide

Myxopapillary Ependymoma

NF1

17q11.2

neurofibromin 1

Neurofibromatosis 1; Pilocytic Astrocytoma; Pilomyxoid Astrocytoma

NF2

22q12.2

neurofibromin 2

Conventional Schwannoma; Ependymoma; Meningioangiomatosis; Meningioma; Neurofibromatosis 2; Schwannomatosis; Solitary Fibrous Tumor, Hemangiopericytoma Type

N-Myc (see MYCN)

p16 (see CDKN2A)

p18 (see CDKN2C)

p27 (see CDKN1B)

P53 (see TP53)

PCDHGA3

5q31

protocadherin gamma subfamily A, 3

CNS Primitive Neuroectodermal Tumor

PDCD10

3q26.1

programmed cell death 10

Cavernous Angioma

PDGFR-α

4q12

platelet-derived growth factor receptor, alpha polypeptide

Myxopapillary Ependymoma

PMS1

2q32

postmeiotic segregation increased 1

Turcot Syndrome

PMS2

7p22

postmeiotic segregation increased 2

Turcot Syndrome

PRKAR1A

17q23-q24

protein kinase, cAMP-dependent, regulatory, type I, alpha

Melanotic Schwannoma

PTCH1

9q22.3

patched 1

Cerebellar Liponeurocytoma; Medulloblastoma

PTEN

10q23.31

phosphotase and tensin homolog

Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease); Glioblastoma

PTTG1

5q35.1

pituitary tumor-transforming 1; PTTG

Pituitary Adenoma

RAS (see KRAS)

KRAS

12p12.1

rat sarcoma oncogene; RAS

Pituitary Adenoma; Prolactinoma

RASSF1A

3p21.3

Ras association (RalGDS/AF-6) domain family member 1

CNS Primitive Neuroectodermal Tumor

RB1

13q14

retinoblastoma 1

Osteocartilaginous Neoplasms; Pineal Parenchymal Neoplasms (Pineocytoma, Pineal Parenchymal Tumor of Intermediate Differentiation, and Pineoblastoma)

SMARCB1

22q11

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member

Atypical Teratoid/Rhabdoid Tumor; Choroid Plexus Carcinoma; Glioblastoma; Schwannomatosis

SMO

7q32.3

smoothened, frizzled family receptor

Medulloblastoma

SRGAPS-RAF21

Pilocytic Astrocytoma

SUFU

10q24.32

suppressor of fused homolog

Medulloblastoma

t(1;19)

Extraventricular Neurocytoma

t(21;22)

Peripheral Primitive Neuroectodermal Tumor (Ewing Sarcoma)

t(X;18)

Malignant Peripheral Nerve Sheath Tumor

TP53

17p13.1

tumor protein p53

Cerebellar Liponeurocytoma; Choroid Plexus Carcinoma; Choroid Plexus Papilloma and Atypical Papilloma; CNS Primitive Neuroectodermal Tumor; Gliosarcoma; Osteocartilaginous Neoplasms; Pituitary Adenoma; Pituitary Carcinoma; Pleomorphic Xanthoastrocytoma; Turcot Syndrome; Mixed Oligoastrocytoma

Trisomy 12

Prolactinoma

Trisomy 20

Prolactinoma

Trisomy 5

Prolactinoma

Trisomy 7

Prolactinoma

Trisomy 8

Prolactinoma

Trisomy 9

Prolactinoma

TSC1

9q34

tuberous sclerosis 1

Ganglion Cell Tumors; Subependymal Giant Cell Astrocytoma; Tuberous Sclerosis Complex

TSC2

16p13.3

tuberous sclerosis 2

Ganglion Cell Tumors; Subependymal Giant Cell Astrocytoma; Tuberous Sclerosis Complex

VHL

3p25-26

von Hippel-Lindau tumor suppressor

Hemangioblastoma; von Hippel-Lindau Syndrome