Molecular Factors Discussed

Molecular Factor

Chromosomal Location

Definition/Alternative Names

Chapters

12q13-15

Fibrous Dysplasia

16q22

Aneurysmal Bone Cyst

1p

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

4p16.3

Giant Cell Reparative Granuloma

6q13

Chondromyxoid Fibroma

6q25

Chondromyxoid Fibroma

ALX4

11p11.2

ALX homeobox 4

Multiple Hereditary Osteochondromatosis

CDH11-USP6

t(16;17)(q21;p13)

Aneurysmal Bone Cyst

CDK4

12q14

cyclin-dependent kinase 4

Adipocytic Tumors

CIC-DUX4

t(4;19)(q35;q13.2)

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

c-KIT

4q11-q12

KIT; CD117; tyrosine kinase KIT

Mast Cell Disease

Cytogenetic aberrations, other

Enchondroma; Osteofibrous Dysplasia

DDIT3

12q13.1-q13.2

DNA-damage-inducible transcript 3

Adipocytic Tumors

DYNC1H1

14q32

dynein, cytoplasmic 1, heavy chain 1

Plasmacytoma/Myeloma

E1AF

17q21

E1A enhancer-binding protein; ETV4

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

ETV1

7p21.3

ets variant 1

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

EWS (see EWSR1)

EWS-ERG

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

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

EWSR1

22q12.2

Ewing sarcoma breakpoint region 1

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET); Conventional Osteosarcoma; Myoepithelioma

EWSR1-FLI1

t(11;22)(q24;q12)

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

EXT1

8q24.11

exostosin 1

Multiple Hereditary Osteochondromatosis; Osteochondroma

EXT2

11p12-p11

exostosin 2

Multiple Hereditary Osteochondromatosis; Osteochondroma

EXT3

19p

exostosin 3

Multiple Hereditary Osteochondromatosis; Osteochondroma

FEV

2q36

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

FUS

16p11.2

fused in sarcoma

Adipocytic Tumors

FUS/ERG

t(16;21)(p11.2;q22.3)

Ewing Sarcoma/Primitive Neuroectodermal Tumor (PNET)

GNAS1

20q13.3

GNAS complex locus

Liposclerosing Fibromyxoid Tumor; Osteofibrous Dysplasia; Fibrous Dysplasia

IDH1

2q33.3

isocitrate dehydrogenase 1 (NADP+), soluble

Conventional Chondrosarcoma; Conventional Osteosarcoma; Dedifferentiated Chondrosarcoma; Enchondromatosis

IDH2

15q26.1

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Conventional Chondrosarcoma; Conventional Osteosarcoma; Dedifferentiated Chondrosarcoma; Enchondromatosis

LEMD3

12q14

LEM domain containing 3

Bone Island/Osteopoikilosis; Melorheostosis

MDM2

12q15

p53 E3 ubiquitin protein ligase homolog (mouse)

Adipocytic Tumors; Melorheostosis

n-MYC

8q24

NMYC; neuroblastoma MYC

Multiple Hereditary Osteochondromatosis

RB1

13q14.2

retinoblastoma 1

Conventional Osteosarcoma

t(11;22)

Adamantinoma; Mesenchymal Chondrosarcoma

t(12;16)

Adipocytic Tumors

t(16;17)

Aneurysmal Bone Cyst

t(21;22)

Adipocytic Tumors

t(3;12)(q28;q14)

Adipocytic Tumors

t(5;17)

Chondroblastoma

t(X;18)

Solitary Fibrous Tumor/Hemangiopericytoma

TP53

17p13.1

tumor protein p53

Conventional Osteosarcoma

TRPS1

8q24.12

trichorhinophalangeal syndrome I

Multiple Hereditary Osteochondromatosis

USP6

17p13

ubiquitin specific peptidase 6

Aneurysmal Bone Cyst; Giant Cell Reparative Granuloma

WWTR1-CAMTA1

t(1;3)(p36.3;q25)

Epitheioid Hemangioendothelioma