Molecular Factor

Chromosomal Location

Definition/Alternative Names

Chapters

β-catenin

3p21

catenin (cadherin-associated protein), beta 1; beta-catenin; CTNNB1

Adrenal Cortical Adenoma; Adrenal Cortical Carcinoma; Calcifying Fibrous Tumor; Craniopharyngioma; Desmoid Fibromatosis; Familial Adenomatous Polyposis; Fibroma; Fibromatosis Colli; Gardner Fibroma; Gastrointestinal Stromal Tumor; Hepatoblastoma; Infantile Fibrosarcoma; Infantile/ Juvenile Hyaline Fibromatosis; Inflammatory Myofibroblastic Tumor; Medulloblastoma; Myofibroma and Myofibromatosis; Nodular Fasciitis; Pancreatoblastoma; Papillary Thyroid Carcinoma; Pilomatricoma; Rhabdoid Tumor; Wilms Tumor

κ light chain

2p11

immunoglobulin kappa light chain region

Burkitt Lymphoma

λ light chain

22q11

immunoglobulin lambda light chain region

Burkitt Lymphoma

1, chromosome

1

MiTF/TFE Family Translocation-associated Carcinoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma

2, chromosome

2

Nodular Fasciitis

3, chromosome

3

Acute Myeloid Leukemia; Choroid Plexus Tumors; Nodular Lymphocyte Predominant Hodgkin Lymphoma

5, chromosome

5

Choroid Plexus Tumors

6, chromosome

6

Chondromyxoid Fibroma; Nodular Lymphocyte Predominant Hodgkin Lymphoma

7, chromosome

7

Choroid Plexus Tumors

8, chromosome

8

Infantile Fibrosarcoma; Pleuropulmonary Blastoma

9, chromosome

9

Choroid Plexus Tumors; Pleomorphic Xanthoastrocytoma

10, chromosome

10

Anaplastic Astrocytoma

11, chromosome

11

Adrenal Cortical Carcinoma; Desmoplastic Small Round Cell Tumor; Dysplastic Nevus; Ewing Sarcoma; Infantile Fibrosarcoma; Pineal Parenchymal Tumors

12, chromosome

12

Choroid Plexus Tumors; Hemangiopericytoma; Pineal Parenchymal Tumors

13, chromosome

13

Adrenal Cortical Carcinoma; Nodular Fasciitis

15, chromosome

15

Nodular Fasciitis

17, chromosome

17

Adrenal Cortical Carcinoma; Giant Cell Fibroblastoma/ Dermatofibrosarcoma Protuberans; Infantile Fibrosarcoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma; Osteoid Osteoma; Primitive Neuroectodermal Tumor

18, chromosome

18

Pediatric Follicular Lymphoma; Synovial Sarcoma

20, chromosome

20

Infantile Fibrosarcoma

21, chromosome

21

Ewing Sarcoma

22, chromosome

22

Atypical Teratoid/Rhabdoid Tumor; Ependymoma; Ewing Sarcoma; Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans; Osteoid Osteoma; Pineal Parenchymal Tumors; Rhabdoid Tumor; Rhabdomyosarcoma

11, trisomy

11

Myeloid Sarcoma

11p

11p

Hepatoblastoma; Malignant Melanoma

11p11-12

11p11-12

EXT2

Osteochondroma

11p15

11p15

Adrenal Cortical Carcinoma; Nesidioblastosis; Wilms Tumor

11p15.5

11p15.5

Adrenal Cortical Carcinoma; Pancreatoblastoma; Rhabdomyosarcoma

11q

11q

Malignant Melanoma; Neuroblastoma and Ganglioneuroblastoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma

11q11-12

11q11-12

Pigmented Villonodular Tenosynovitis

11q12

11q12

MiTF/TFE Family Translocation-associated Carcinoma

11q13

11q13

CCND1; cyclin D1

Adrenal Cortical Carcinoma; Malignant Melanoma

11q21

11q21

Mucoepidermoid Carcinoma

11q23

11q23

HRX; ALL1

Acute Myeloid Leukemia; Malignant Melanoma; Neuroblastoma and Ganglioneuroblastoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma

12, trisomy

12

Juvenile Granulosa Cell Tumor

12q

12q

Chondromyxoid Fibroma; Nodular Lymphocyte Predominant Hodgkin Lymphoma

12q13-15

12q13-15

Pleomorphic Adenoma

13q

13q

Chondromyxoid Fibroma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

13q14

13q14

Primitive Neuroectodermal Tumor; Retinoblastoma

14q32

14q32

Burkitt Lymphoma

15q

15q

Primary Mediastinal (Thymic) Large B-Cell Lymphoma

16, monosomy

16

Myeloid Sarcoma

16p

16p

Chondromyxoid Fibroma; Subependymal Giant Cell Tumor

16q

16q

Trichoepithelioma; Wilms Tumor

16q, deletion

16q

Myeloid Sarcoma

17p

17p

Chondromyxoid Fibroma; Glioblastoma; Medulloblastoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

17p13

17p13

Aneurysmal Bone Cyst; Dysplastic Nevus; Secretory Carcinoma

17p21

17p21

Nodular Lymphocyte Predominant Hodgkin Lymphoma

17q

17q

Malignant Melanoma; Medulloblastoma; Pilocytic Astrocytoma

17q11

17q11

Malignant Peripheral Nerve Sheath Tumor

17q11.2

17q11.2

Malignant Peripheral Nerve Sheath Tumor; Neurofibroma

17q13

17q13

Malignant Peripheral Nerve Sheath Tumor

17q23

17q23

MiTF/TFE Family Translocation-associated Carcinoma

17q25

17q25

MiTF/TFE Family Translocation-associated Carcinoma

18, trisomy

18

Hepatoblastoma; Wilms Tumor

19p

19p

Chondromyxoid Fibroma; Osteochondroma

19p13

19p13

B Lymphoblastic Leukemia/Lymphoma; Follicular Adenoma; Mucoepidermoid Carcinoma; T Lymphoblastic Leukemia/Lymphoma

19p13.3

19p13.3

Peutz-Jeghers Polyps

19q

19q

Chondromyxoid Fibroma; Glioblastoma; Mesenchymal Hamartoma; Oligodendroglioma; Protocol for Brain/Spinal Cord Tumor Specimens

1p

1p

Chondromyxoid Fibroma; Familial Adenomatous Polyposis; Hepatoblastoma; Neuroblastoma and Ganglioneuroblastoma; Oligodendroglioma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma; Primitive Neuroectodermal Tumor; Protocol for Brain/Spinal Cord Tumor Specimens; Wilms Tumor

1p/19q

1p/19q

Anaplastic Astrocytoma; Glioblastoma; Oligodendroglioma

1p13

1p13

Pigmented Villonodular Tenosynovitis

1p21-22

1p21-22

Glomus Tumor

1p32

1p32

T Lymphoblastic Leukemia/Lymphoma

1p34

1p34

MiTF/TFE Family Translocation-associated Carcinoma

1q

1q

Hepatoblastoma; Malignant Melanoma; Oligodendroglioma; Secretory Carcinoma

1q21

1q21

MiTF/TFE Family Translocation-associated Carcinoma

1q21.3

1q21.3

Histiocytoid Cardiomyopathy

2, trisomy

2

Fibrous Dysplasia

20q

20q

Chondromyxoid Fibroma; Malignant Melanoma

20q, deletion

20q

Myeloid Sarcoma

21, trisomy

21

Childhood Myelodysplastic Syndrome; Myeloid Proliferations Related to Down Syndrome

22, monosomy

22

Atypical Teratoid/Rhabdoid Tumor; Ependymoma; Rhabdoid Tumor

22q

22q

Chondromyxoid Fibroma; Ependymoma; Medulloblastoma; Primitive Neuroectodermal Tumor; Rhabdoid Tumor; Secretory Carcinoma

22q11

22q11

Burkitt Lymphoma

22q11.2

22q11.2

Atypical Teratoid/Rhabdoid Tumor; Rhabdoid Tumor

2p

2p

Medulloblastoma

2p11

2p11

Burkitt Lymphoma

2p23

2p23

Anaplastic Large Cell Lymphoma, ALK+; Inflammatory Myofibroblastic Tumor

2q

2q

Nodular Lymphocyte Predominant Hodgkin Lymphoma

2q12.1a

2q12.1a

Histiocytoid Cardiomyopathy

2q23

2q23

Nodular Lymphocyte Predominant Hodgkin Lymphoma

2q35-37

2q35-37

Pigmented Villonodular Tenosynovitis

3p

3p

Primary Mediastinal (Thymic) Large B-Cell Lymphoma

4, trisomy

4

B Lymphoblastic Leukemia/Lymphoma; Myeloid Sarcoma

4q

4q

Nodular Lymphocyte Predominant Hodgkin Lymphoma

5, monosomy

5

Childhood Myelodysplastic Syndrome; Pigmented Villonodular Tenosynovitis

5q

5q

Nodular Lymphocyte Predominant Hodgkin Lymphoma

5q, deletion

5q

Acute Myeloid Leukemia; Childhood Myelodysplastic Syndrome; Myeloid Sarcoma; Protocol for Bone Marrow Specimens

5q21

5q21

Papillary Thyroid Carcinoma

5q21-q22

5q21-q22

Familial Adenomatous Polyposis; Hepatoblastoma

5q22-23

5q22-23

Pigmented Villonodular Tenosynovitis

5q31

5q31

Nodular Lymphocyte Predominant Hodgkin Lymphoma

5q35

5q35

Anaplastic Large Cell Lymphoma, ALK+; T Lymphoblastic Leukemia/Lymphoma

6p

6p

Malignant Melanoma

6p25

6p25

Malignant Melanoma

6q

6q

Malignant Melanoma

6q22

6q22

Nodular Lymphocyte Predominant Hodgkin Lymphoma

6q23

6q23

Malignant Melanoma

7, monosomy

7

Childhood Myelodysplastic Syndrome; Juvenile Myelomonocytic Leukemia; Myeloid Sarcoma; T Lymphoblastic Leukemia/Lymphoma

7, trisomy

7

Myeloid Sarcoma; Pigmented Villonodular Tenosynovitis; Pilocytic Astrocytoma; T Lymphoblastic Leukemia/Lymphoma

7p

7p

Malignant Melanoma

7q

7q

Childhood Myelodysplastic Syndrome; Diffuse Astrocytoma (Low Grade); Malignant Melanoma

7q, deletion

7q

Childhood Myelodysplastic Syndrome

8, polysomy

Lipoblastoma

8, trisomy

8

Childhood Myelodysplastic Syndrome; Myeloid Proliferations Related to Down Syndrome; Myeloid Sarcoma; Pleuropulmonary Blastoma; T Lymphoblastic Leukemia/ Lymphoma

8q

8q

Malignant Melanoma; Medulloblastoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma; Secretory Carcinoma

8q12

8q12

Lipoblastoma; Pleomorphic Adenoma

8q21-22

8q21-22

Pigmented Villonodular Tenosynovitis

8q24

8q24

Burkitt Lymphoma

8q24.1

8q24.1

EXT1

Osteochondroma

9p

9p

Malignant Melanoma

9q

9q

Malignant Melanoma

9q22

9q22

Nodular Lymphocyte Predominant Hodgkin Lymphoma

ABCC8

11p15.1

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Nesidioblastosis

ACVR1/ALK2

Fibrodysplasia Ossificans Progressiva

AF4

4q21

ALL1-fused gene from chromosome 4 protein

B Lymphoblastic Leukemia/Lymphoma

AF9

9p22

ALL1-fused gene from chromosome 9 protein

B Lymphoblastic Leukemia/Lymphoma

AKT

14q32.32

v-akt murine thymoma viral oncogene homolog 1

Adrenal Cortical Adenoma; Craniopharyngioma; Ganglion Cell Tumors; Myeloid Proliferations Related to Down Syndrome

ALK

2p23

anaplastic lymphoma receptor tyrosine kinase

Anaplastic Large Cell Lymphoma, ALK+; Calcifying Fibrous Tumor; Classical Hodgkin Lymphoma; Diffuse Large B-Cell Lymphoma; Inflammatory Myofibroblastic Tumor; Myeloid Sarcoma; Omental Mesenteric Hamartoma; Protocol for Non-Hodgkin Lymphoma Specimens

ALO17

17q25

ALK lymphoma oligomerization partner on chromosome 17

Anaplastic Large Cell Lymphoma, ALK+;

ANTXR2

4q21.21

anthrax toxin receptor 2

Infantile/Juvenile Hyaline Fibromatosis

APC

5q21-q22

adenomatosis polyposis coli

Desmoid Fibromatosis; Familial Adenomatous Polyposis; Gardner Fibroma; Gastrointestinal Stromal Tumor; Hepatoblastoma; Inflammatory Myofibroblastic Tumor; Medulloblastoma; Myofibroma and Myofibromatosis; Papillary Thyroid Carcinoma

APO1

10q24.1

apoptosis antigen 1; Fas (TNF receptor superfamily, member 6)

Autoimmune Lymphoproliferative Syndrome

ASPL

17q25.3

alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1)

MiTF/TFE Family Translocation-associated Carcinoma

ASPL-TFE3

t(X;17)(p11.2;q25)

MiTF/TFE Family Translocation-associated Carcinoma

ASPSCR1

17q25.3

alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1)

MiTF/TFE Family Translocation-associated Carcinoma

ATIC

2q35

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Anaplastic Large Cell Lymphoma, ALK+

ATM

11q22-23

ataxia telangiectasia mutated

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

Basal-like

Secretory Carcinoma

BAX

19q13.3

BCL2-associated X protein

Burkitt Lymphoma

BCL2

18q21.3

B-cell CLL/lymphoma 2

Burkitt Lymphoma; Diffuse Large B-Cell Lymphoma; Pediatric Follicular Lymphoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

BCL2-IGH

t(14;18)(q32;q21)

Pediatric Follicular Lymphoma

BCL6

3q27

B-cell CLL/lymphoma 6

Burkitt Lymphoma; Diffuse Large B-Cell Lymphoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma; Pediatric Follicular Lymphoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

BCR-ABL1

t(9;22)(q34;q11)

Philadelphia chromosome

B Lymphoblastic Leukemia/Lymphoma; Juvenile Myelomonocytic Leukemia; Myeloid Sarcoma; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens; T Lymphoblastic Leukemia/Lymphoma

beta-catenin

3p21

catenin (cadherin-associated protein), beta 1; CTNNB1

Adrenal Cortical Adenoma; Craniopharyngioma

BMP4

14q22-23

bone morphogenetic protein 4

Juvenile Myelomonocytic Leukemia

BMPR1A

10q22.3

bone morphogenetic protein receptor type-1A

Cronkite-Canada Syndrome; Juvenile Polyps; Peutz-Jeghers Polyps

BRAF

7q34

v-raf murine sarcoma viral oncogene homolog B1

Follicular Adenoma; Papillary Thyroid Carcinoma

CALCA

11p15.2

calcitonin-related polypeptide alpha

Juvenile Myelomonocytic Leukemia

CASP10

2q33-q34

caspase 10, apoptosis-related cysteine peptidase

Autoimmune Lymphoproliferative Syndrome

CASP8

2q33-q34

caspase 8, apoptosis-related cysteine peptidase

Autoimmune Lymphoproliferative Syndrome

CBFβ-MYH11

inv(16)(q22p13)

Acute Myeloid Leukemia; Childhood Myelodysplastic Syndrome; Myeloid Sarcoma; Protocol for Bone Marrow Specimens

CCND1

11q13

cyclin D1

Primary Mediastinal (Thymic) Large B-Cell Lymphoma

CD40

20q12-13.2

CD40 molecule, TNF receptor superfamily member

Classical Hodgkin Lymphoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

CD40LG

Xq26

CD40 ligand

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

CD68

17p13

CD68 molecule

Fibrous Histiocytoma; Juvenile Xanthogranuloma; Myeloid Sarcoma; Oligodendroglioma; Proliferative Fasciitis/Myositis

CD95

10q24.1

Fas (TNF receptor superfamily, member 6)

Autoimmune Lymphoproliferative Syndrome

CDH11-USP6

t(16;17)(q21;p13)

Aneurysmal Bone Cyst

CDK4

12q14

cyclin-dependent kinase 4

T Lymphoblastic Leukemia/Lymphoma

CDKN2A

9p21

cyclin-dependent kinase inhibitor 2A; p16

Malignant Melanoma; T Lymphoblastic Leukemia/Lymphoma

CDKN2B

9p21

cyclin-dependent kinase inhibitor 2B; p15

Juvenile Myelomonocytic Leukemia

CDNK2A

9p21

cyclin-dependent kinase inhibitor 2A

Glioblastoma

CEBPA

19q13.1

CCAAT/enhancer binding protein (C/EBP), alpha

Acute Myeloid Leukemia; Myeloid Sarcoma

CHS1/LYST

1q42.1-q42.2

Chediak-Higashi syndrome 1/lysosomal trafficking regulator

Hemophagocytic Syndrome

CK19

17q21.2

keratin 19

Follicular Carcinoma; Pancreatoblastoma

c-KIT (see KIT)

CLTC

17q11

clathrin, heavy chain (Hc)

MiTF/TFE Family Translocation-associated Carcinoma

CLTCL

22q11.2

clathrin, heavy chain-like 1

Anaplastic Large Cell Lymphoma, ALK+

c-myc (see MYC)

COL1A1

17q21.33

collagen, type I, alpha 1

Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans

CSF1

1p21-p13

colony stimulating factor 1 (macrophage)

Pigmented Villonodular Tenosynovitis

CSF1R

5q32

colony stimulating factor 1 receptor

Pigmented Villonodular Tenosynovitis

CTNNB1

3p21

beta-catenin

Adrenal Cortical Carcinoma; Wilms Tumor

CYLD

16q12.1

cylindromatosis (turban tumor syndrome)

Trichoepithelioma

DICER1

14q32.13

dicer 1, ribonuclease type III

Pleuropulmonary Blastoma

E2A-PBX1

t(1;19)(q23;p13.3)

B Lymphoblastic Leukemia/Lymphoma; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens

EBV

Epstein-barr virus

Acute Myeloid Leukemia; Autoimmune Lymphoproliferative Syndrome; Burkitt Lymphoma; Classical Hodgkin Lymphoma; Diffuse Large B-Cell Lymphoma; Hemophagocytic Syndrome; Juvenile Myelomonocytic Leukemia; Nodular Lymphocyte Predominant Hodgkin Lymphoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency; Protocol for Non-Hodgkin Lymphoma Specimens

E-cadherin

16q22.1

CDH1

Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans

EGFR

7p12

Epidermal growth factor receptor; ERBB1; HER1

Anaplastic Astrocytoma; Glioblastoma

ENL

19p13

MLLT1

B Lymphoblastic Leukemia/Lymphoma

Epstein-Barr virus

EBV

Autoimmune Lymphoproliferative Syndrome; Burkitt Lymphoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens

ER

6q25.1

estrogen receptor

Pleomorphic Xanthoastrocytoma; Secretory Carcinoma

ERG

21q22.3

v-ets erythroblastosis virus E26 oncogene homolog

Ewing Sarcoma

ETV6

12p13

ets variant 6

Secretory Carcinoma

ETV6-NTRK3

t(12;15)(p13;q25)

Infantile Fibromatosis; Infantile Fibrosarcoma; Mesoblastic Nephroma; Secretory Carcinoma

EVER1/TMC6

17q25.3

epidermodysplasia verruciformis 1/transmembrane channel-like

Epidermodysplasia Veruciformis

EVER2/TMC8

17q25.3

epidermodysplasia verruciformis 2/transmembrane channel-like

Epidermodysplasia Veruciformis

EWS

22q12.2

Ewing sarcoma (EWS) breakpoint region 1 (EWSR1)

Desmoplastic Small Round Cell Tumor; Ewing Sarcoma; Myeloid Sarcoma; Synovial Sarcoma; T Lymphoblastic Leukemia/Lymphoma

EWS-CREB1

t(2;22)(q34;q12)

Malignant Peripheral Nerve Sheath Tumor

EWS-E1AF

t(17;22)(q12;q12)

Ewing Sarcoma

EWS-E1AF

t(17;22)(q12;q12)

Ewing Sarcoma

EWS-ERG

t(21;22)(q22;q12)

Desmoplastic Small Round Cell Tumor; Ewing Sarcoma; Malignant Peripheral Nerve Sheath Tumor

EWS-ETV1

t(7;22)(p22;q12)

Ewing Sarcoma

EWS-FEV

t(2;22)(q33;q12)

Ewing Sarcoma

EWS-FLI1

t(11;22)(q24;q12)

Ewing Sarcoma; Malignant Peripheral Nerve Sheath Tumor

EWSR1

22q12.2

Ewing sarcoma (EWS) breakpoint region 1 (EWSR1)

Malignant Peripheral Nerve Sheath Tumor

EWS-WT1

t(11;22)(p13;q12)

Desmoplastic Small Round Cell Tumor; Rhabdomyosarcoma

EWS-ZSG

t(1;22)(p36;q12)

Ewing Sarcoma

EXT1

8q24.1

exostosin 1

Osteochondroma

EXT2

11p11-12

exostosin 2

Osteochondroma

EXT3

19p

exostoses (multiple) 3

Osteochondroma

FAS

10q24.1

Fas (TNF receptor superfamily, member 6)

Autoimmune Lymphoproliferative Syndrome; Fibroadenoma; Follicular Adenoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

FASLG

1q23

Fas ligand (TNF superfamily, member 6)

Autoimmune Lymphoproliferative Syndrome; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

FGFR1

8p12

fibroblast growth factor receptor 1

Protocol for Bone Marrow Specimens; T Lymphoblastic Leukemia/Lymphoma

FIP1L1-PDGFRA

4q12

Mastocytosis

FLI1

11q24.1-q24.3

Friend leukemia virus integration 1

Desmoplastic Small Round Cell Tumor; Ewing Sarcoma; Myeloid Sarcoma

FLI-1

11q24.1-q24.3

Friend leukemia virus integration 1

Diffuse Large B-Cell Lymphoma

FLI1-EWS

t(11;22)(q24;q12)

Synovial Sarcoma

FLT3

13q12

fms-related tyrosine kinase

Acute Myeloid Leukemia; Mastocytosis; Medullary Thyroid Carcinoma; Myeloid Sarcoma

FOXC2

16q24.1

forkhead box C2

Lymphatic Malformation

G proteins

Fibrous Dysplasia

GATA1

Xp11.23

GATA binding protein 1

Myeloid Proliferations Related to Down Syndrome

GBY

Y

Gonadoblastoma

GNAS1

20q13.3

GNAS complex locus

Follicular Carcinoma

GPC3

Xq26.1

glypican 3

Hepatocellular Carcinoma

H19

11p15.5

imprinted maternally expressed transcript (non-protein coding)

Adrenal Cortical Carcinoma; Wilms Tumor

HER2

17q12

c-erbB-2

Secretory Carcinoma

HIV

human immunodeficiency virus

Burkitt Lymphoma; Childhood Myelodysplastic Syndrome; Classical Hodgkin Lymphoma; Diffuse Lipomatosis; Hemophagocytic Syndrome

HMGA2

12q15

high mobility group AT-hook 2; HMGIC

Pleomorphic Adenoma

HMGIC

12q15

high-mobility group (nonhistone chromosomal) protein isoform I-C; HMGA2

Pleomorphic Adenoma

HOX11

10q24

homeobox-11; TLX1

T Lymphoblastic Leukemia/Lymphoma

HOX11L2

5q35.1

homeobox 11-like 2; TLX3

T Lymphoblastic Leukemia/Lymphoma

HPV

human papilloma virus

Epidermodysplasia Veruciformis; Laryngotracheal Papillomatosis

HRAS

11p15.5

v-Ha-ras Harvey rat sarcoma viral oncogene homolo

Follicular Adenoma; Follicular Carcinoma

hSNF5/INI1 (see INI1)

i17q

17q

isochromosome 17q

Medulloblastoma; Pediatric Follicular Lymphoma

IDH1

2q33.3

isocitrate dehydrogenase 1

Acute Myeloid Leukemia

IDH2

15q26.1

isocitrate dehydrogenase 2

Acute Myeloid Leukemia

IGF2

11p15.5

insulin-like growth factor 2

Wilms Tumor

IGH

14q32.33

immunoglobulin heavy chain complex

B Lymphoblastic Leukemia/Lymphoma; Burkitt Lymphoma; Myeloid Sarcoma; Nodular Lymphocyte Predominant Hodgkin Lymphoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency; Pediatric Follicular Lymphoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma; T Lymphoblastic Leukemia/Lymphoma

IGH/MALT1

t(14;18)(q32;q21)

Diffuse Large B-Cell Lymphoma; Pediatric Follicular Lymphoma

IGH-MYC

t(8;14)(q24;q32)

Burkitt Lymphoma; Diffuse Large B-Cell Lymphoma

IGK/MYC

t(2;8)(p12;q24)

Burkitt Lymphoma

IgVH

Immunoglobulin heavy chain gene, variable region

Classical Hodgkin Lymphoma

IL18R1

2q12

interleukin 18 receptor 1

Histiocytoid Cardiomyopathy

IL18RAP

2q12

interleukin 18 receptor accessory protein

Histiocytoid Cardiomyopathy

IL1RL1

2q12

interleukin 1 receptor-like 1

Histiocytoid Cardiomyopathy

IL3-IGH

t(5;14)(q31;q32)

B Lymphoblastic Leukemia/Lymphoma; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens

Immunoglobulin heavy chain gene

14q32.33

IGH

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

INI1

22q11

integrase interactor 1; hSNF5; SMARCB1; BAF47

Atypical Teratoid/Rhabdoid Tumor; Choroid Plexus Tumors; Medulloblastoma; Mesoblastic Nephroma; Primitive Neuroectodermal Tumor; Rhabdoid Tumor

inv(16)

16

Myeloid Sarcoma

inv(16)/t(16;16)(p13.1q22)

inv(16)/t(16;16)(p13.1q22)

CBFβ-MYH11

Myeloid Sarcoma

inv(xp11;q12)

MiTF/TFE Family Translocation-associated Carcinoma

JAK2

9p24

Janus kinase 2

Acute Myeloid Leukemia; Myeloid Sarcoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

KCNJ11

11p15.1

potassium inwardly-rectifying channel, subfamily J, member 11; kir6.2

Nesidioblastosis

Kir6.2

11p15.1

potassium inwardly-rectifying channel, subfamily J, member 11; KCNJ11

Nesidioblastosis

KIT

4q11-q12

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog;c-Kit;CD117

Acute Myeloid Leukemia; Desmoid Fibromatosis; Gastrointestinal Stromal Tumor; Inflammatory Myofibroblastic Tumor; Inflammatory Polyps; Mastocytosis; Protocol for Gastrointestinal Stromal Tumors; Desmoid Fibromatosis

KRAS

12p12.1

v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; KRAS2

Juvenile Myelomonocytic Leukemia

KRAS2

12p12.1

v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; KRAS

Juvenile Myelomonocytic Leukemia

LKB1

19p13.3

liver kinase B1; STK11

Peutz-Jeghers Polyps

LOH 10

10

loss of heterozygosity 10

Glioblastoma

LYL1

19p13.2

lymphoblastic leukemia derived sequence 1

T Lymphoblastic Leukemia/Lymphoma

MALT

18q21

mucosa associated lymphoid tissue lymphoma translocation gene 1

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens

MAML2

11q21

mastermind-like gene family

Mucoepidermoid Carcinoma

MAML2-MECT1

t(11;19)(q21-22;p13)

Mucoepidermoid Carcinoma

MDM2

12q14.3-q15

mdm2 p53 binding protein homolog

Ependymoma

MECT1

19p13

mucoepidermoid carcinoma translocated 1

Mucoepidermoid Carcinoma

MEN2A

10q11.2

RET

Medullary Thyroid Carcinoma

MERRF

myoclonic epilepsy and ragged red muscle fibers

Histiocytoid Cardiomyopathy

MET

7q31

met proto-oncogene

Giant Cell Tumor; Mastocytosis; Medullary Thyroid Carcinoma

Mitochondrial cytochrome b

Mitochondrion

CYTB

Histiocytoid Cardiomyopathy

MLL

11q23

HRX; ALL1

Acute Myeloid Leukemia; B Lymphoblastic Leukemia/Lymphoma; Myeloid Sarcoma; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens; T Lymphoblastic Leukemia/Lymphoma

MLL-AF4

t(4;11)(q21;q23)

B Lymphoblastic Leukemia/Lymphoma

MSI

microsatelite instability

Glioblastoma

MSN

Xq11.1

moesin

Anaplastic Large Cell Lymphoma, ALK+

MUM1

19p13.3

melanoma associated antigen (mutated) 1

Diffuse Large B-Cell Lymphoma

MutYH

1p34.1

mutY homolog

Familial Adenomatous Polyposis

MYC

8q24.21

v-myc myelocytomatosis viral oncogene homolog

Burkitt Lymphoma; Diffuse Large B-Cell Lymphoma; Medulloblastoma; Myeloid Sarcoma; Primary Mediastinal (Thymic) Large B-Cell Lymphoma; T Lymphoblastic Leukemia/Lymphoma

MYH

Familial Adenomatous Polyposis

MYH9

22q13.1

myosin, heavy chain 9, non-muscle Anaplastic Large Cell Lymphoma, ALK+

MYO5A

15q21

myosin VA (heavy chain 12, myoxin)

Hemophagocytic Syndrome

NBS1

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

NF1

17q11.2

neurofibromin 1

B Lymphoblastic Leukemia/Lymphoma; Gastrointestinal Stromal Tumor; Glioblastoma; Juvenile Myelomonocytic Leukemia; Juvenile Xanthogranuloma; Malignant Peripheral Nerve Sheath Tumor; Neuroendocrine Tumors; Neurofibroma; Pilocytic Astrocytoma; Schwannoma

NF2

22q12.2

neurofibromin 2

Ependymoma; Gastrointestinal Stromal Tumor; Meningioangiomatosis; Schwannoma

NF-κB

4q24

nuclear factor of kappa light polypeptide gene enhancer in B-cells 1

Histiocytoid Cardiomyopathy; Primary Mediastinal (Thymic) Large B-Cell Lymphoma

N-Myc

2p24.3

v-myc myelocytomatosis viral related oncogene, neuroblastoma derived

Ganglioneuroma; Medulloblastoma; Neuroblastoma and Ganglioneuroblastoma; Primitive Neuroectodermal Tumor

Notch/CXRC1

survivin

Medulloblastoma

NOTCH1

9q34.3

Classical Hodgkin Lymphoma; T Lymphoblastic Leukemia/Lymphoma

NPM

5q35.1

nucleophosmin

Anaplastic Large Cell Lymphoma, ALK+

NPM1

5q35.1

nucleophosmin 1

Acute Myeloid Leukemia; Anaplastic Large Cell Lymphoma, ALK+; Myeloid Sarcoma

NPM-ALK

t(2;5)(p23;q35)

Anaplastic Large Cell Lymphoma, ALK+

NRAS

1p13.2

neuroblastoma RAS viral (v-ras) oncogene homolog

Autoimmune Lymphoproliferative Syndrome; Follicular Adenoma; Juvenile Myelomonocytic Leukemia

NTRK3

15q25

neurotrophic tyrosine kinase, receptor, type 3

Juvenile Myelomonocytic Leukemia

NTRK3-ETV6

t(12;15)(p13;q25)

Infantile Fibrosarcoma; Secretory Carcinoma

Nucleophosmin

5q35.1

NPM

Acute Myeloid Leukemia; Rhabdomyosarcoma

p130/Rb2

16q12.2

retinoblastoma-like 2 (p130)

T Lymphoblastic Leukemia/Lymphoma

p16

9p21

CDKN2A; p16-INK4A; ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A

Burkitt Lymphoma; Glioblastoma; Malignant Melanoma; T Lymphoblastic Leukemia/Lymphoma

P53

17p13.1

TP53

Adrenal Cortical Carcinoma; Anaplastic Astrocytoma; Burkitt Lymphoma; Chondroblastoma; Choroid Plexus Tumors; Diffuse Astrocytoma (Low Grade); Ependymoma; Familial Adenomatous Polyposis; Follicular Carcinoma; Glioblastoma; Inflammatory Myofibroblastic Tumor; Malignant Peripheral Nerve Sheath Tumor; Medulloblastoma; Neurofibroma; Oligodendroglioma; Pediatric Follicular Lymphoma; Pilocytic Astrocytoma; Pleomorphic Xanthoastrocytoma; Primitive Neuroectodermal Tumor; Secretory Carcinoma; Wilms Tumor

p73

1p36.3

tumor protein p73

Burkitt Lymphoma

PAX3

2q35

paired-box 3

Rhabdomyosarcoma

PAX3-FKHR

t(2;13)(q35;q14)

Rhabdomyosarcoma; Synovial Sarcoma

PAX5

9p13

paired box 5

Classical Hodgkin Lymphoma

PAX7-FKHR

t(1;13)(p36;q14)

Rhabdomyosarcoma; Synovial Sarcoma

PAX8

2q13

paired box 8

Follicular Carcinoma

PAX8-PPARγ

t(2;3)(q13;p25)

Follicular Carcinoma

PDGFRA

4q12

platelet-derived growth factor receptor, alpha polypeptide; PDGFR-α

Gastrointestinal Stromal Tumor; Inflammatory Myofibroblastic Tumor; Inflammatory Polyps; Protocol for Bone Marrow Specimens; Protocol for Gastrointestinal Stromal Tumors

PDGFRB

5q33.1

platelet-derived growth factor receptor, beta polypeptide; PDGFR-β

Protocol for Bone Marrow Specimens

PDGF-β

5q33.1

platelet-derived growth factor receptor, beta polypeptide

Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans

PDS

Follicular Adenoma

Ph chromosome

t(9;22)(q34;q11)

Philadelphia chromosome; BCR-ABL1

Juvenile Myelomonocytic Leukemia

PI3KCA

3q26.3

PI3-kinase p110 subunit alpha; PIK3CA

Follicular Carcinoma

PIK3CA

3q26.3

phosphoinositide-3-kinase, catalytic, alpha polypeptide; PI3KCA

Follicular Carcinoma

PLAG1

8q12

pleiomorphic adenoma gene 1

Lipoblastoma; Pleomorphic Adenoma

Platelet-derived growth factor receptor α

PDGFR-α; PDGFRA

Inflammatory Polyps

PML-RARA

t(15;17)(q22;q12)

PML-RARA regulated adaptor molecule 1;PML-RARα

Acute Myeloid Leukemia; Childhood Myelodysplastic Syndrome; Protocol for Bone Marrow Specimens

PML-RARα

t(15;17)(q22;q12)

PML-RARA regulated adaptor molecule 1;PML-RARA

Myeloid Sarcoma

PPARγ

3p25

peroxisome proliferator-activated receptor gamma

Follicular Carcinoma

PR

11q22-q23

progesterone receptor

Secretory Carcinoma

PRCC

1q21.1

papillary renal cell carcinoma (translocation-associated)

MiTF/TFE Family Translocation-associated Carcinoma

PRCC2

17q25.3

ASPSCR1; ASPL

MiTF/TFE Family Translocation-associated Carcinoma

PRCC-TFE3

t(X;1)(p11.2;q21)

MiTF/TFE Family Translocation-associated Carcinoma

PRF1

10q22

perforin 1

Hemophagocytic Syndrome

PRKAR1A

17q23-q24

protein kinase, cAMP-dependent, regulatory, type I, alpha; TSE1

Follicular Adenoma; Follicular Carcinoma

PROX1

1q41

prospero homeobox 1

Lymphatic Malformation

PSF

1p34.3

splicing factor proline/glutamine-rich

MiTF/TFE Family Translocation-associated Carcinoma

PSF-TFE3

t(X;1)(p11.2;p34

MiTF/TFE Family Translocation-associated Carcinoma

PTCH

9q22.3

patched 1; PTCH1

Fetal Rhabdomyoma

PTCH1

9q22.3

patched 1; PTCH

Fibroma; Medulloblastoma

PTEN

10q23.3

phosphatase and tensin homolog

Anaplastic Astrocytoma; Fibrolipomatous Hamartoma of Nerve; Follicular Adenoma; Follicular Carcinoma; Ganglion Cell Tumors; Glioblastoma; Papillary Thyroid Carcinoma; T Lymphoblastic Leukemia/Lymphoma

PTPN11

12q24

Juvenile Myelomonocytic Leukemia

RAB27A

15q15-q21.1

member RAS oncogene family

Hemophagocytic Syndrome

RARB

3p24

retinoic acid receptor, beta; RARβ

Juvenile Myelomonocytic Leukemia

RAS

RAS oncogene family

Follicular Adenoma; Follicular Carcinoma; Malignant Peripheral Nerve Sheath Tumor; Myeloid Sarcoma; Neurofibroma

Rb

13q14.2

retinoblastoma; RB1

Osteosarcoma; Primitive Neuroectodermal Tumor; Retinoblastoma

RET

10q11.2

ret proto-oncogene; MEN2A

Follicular Adenoma; Medullary Thyroid Carcinoma; Papillary Thyroid Carcinoma

RUNX1

21q22.3

runt-related transcription factor 1

B Lymphoblastic Leukemia/Lymphoma

S100A12

1q21.3

Histiocytoid Cardiomyopathy

S100A8

1q21.3

Histiocytoid Cardiomyopathy

S100A9

1q21.3

Histiocytoid Cardiomyopathy

SH2D1A

Xq25

SH2 domain containing 1A

Autoimmune Lymphoproliferative Syndrome; Hemophagocytic Syndrome

SLC26A4

7q31

solute carrier family 26, member 4

Follicular Adenoma

SMAD4

18q21.1

SMAD family member 4;DPC4

Cronkite-Canada Syndrome; Juvenile Polyps; Pancreatoblastoma; Peutz-Jeghers Polyps

SNF5/INI1 (see INI1)

SOCS1

16p13.13

suppressor of cytokine signaling 1

Primary Mediastinal (Thymic) Large B-Cell Lymphoma

SOX18

20q13.33

SRY (sex determining region Y)-box 18

Lymphatic Malformation

Sox6

SRY (sex determining region Y)-box 6

Histiocytoid Cardiomyopathy

SRY

Yp11.3

sex determining region Y

Sertoli-Leydig Cell Tumors

SS18

18q11.2

synovial sarcoma translocation, chromosome 18; SYT

Synovial Sarcoma

SSX

Xp11.22

synovial sarcoma, X

Synovial Sarcoma

SSX1

Xp11.23

synovial sarcoma, X breakpoint 1

Synovial Sarcoma

SSX2

Xp11.22

synovial sarcoma, X breakpoint 2

Synovial Sarcoma

SSX4

Xp11.23

synovial sarcoma, X breakpoint 4

Synovial Sarcoma

STAT1

2q32.2

signal transducer and activator of transcription 1

Primary Mediastinal (Thymic) Large B-Cell Lymphoma

STK11

19p13.3

serine/threonine kinase 11

Peutz-Jeghers Polyps

STX11

6q24.2

syntaxin 11

Hemophagocytic Syndrome

SUR1

11p15.1

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Nesidioblastosis

Survivin

Notch/CXRC1

Medulloblastoma

SYT

18q11.2

synovial sarcoma translocation, chromosome 18; SS18

Calcifying Aponeuronic Fibroma; Malignant Peripheral Nerve Sheath Tumor; Synovial Sarcoma

SYT-SSX

(X;18)(p11;q11)

Calcifying Aponeuronic Fibroma; Pleuropulmonary Blastoma; Rhabdomyosarcoma; Synovial Sarcoma

t(1;13)

t(1;13)

Neuroblastoma and Ganglioneuroblastoma; Rhabdomyosarcoma

t(1;19)

t(1;19)

B Lymphoblastic Leukemia/Lymphoma

t(1;2)

t(1;2)

Pigmented Villonodular Tenosynovitis

t(1;22)

t(1;22)

Acute Myeloid Leukemia; Myeloid Proliferations Related to Down Syndrome

t(1;22)(p13;q13)

t(1;22)(p13;q13)

Myeloid Proliferations Related to Down Syndrome

t(1;22)(p36;q12)

t(1;22)(p36;q12)

Ewing Sarcoma

t(10;11)

t(10;11)

Acute Myeloid Leukemia

t(11;22)(p13;q12)

t(11;22)(p13;q12)

Desmoplastic Small Round Cell Tumor

t(11;19)(q21-22;p13)

t(11;19)(q21-22;p13)

Mucoepidermoid Carcinoma

t(11;22)

t(11;22)

Clear Cell Sarcoma; Ewing Sarcoma; Melanotic Neuroectodermal Tumor of Infancy; Primitive Neuroectodermal Tumor; Teratomas

t(11;22)(q24;q12)

t(11;22)(q24;q12)

Clear Cell Sarcoma; Ewing Sarcoma; Malignant Peripheral Nerve Sheath Tumor; Melanotic Neuroectodermal Tumor of Infancy; Primitive Neuroectodermal Tumor; Teratomas

t(12;22)

t(12;22)

Malignant Peripheral Nerve Sheath Tumor

t(12;15)

t(12;15)

Clear Cell Sarcoma; Secretory Carcinoma

t(12;15)(p13;q25)

t(12;15)(p13;q25)

Mesoblastic Nephroma; Secretory Carcinoma; Hemangiopericytoma; Infantile Fibrosarcoma

t(12;16)

t(12;16)

Chordoma; Lipoblastoma

t(12;21)

t(12;21)

B Lymphoblastic Leukemia/Lymphoma

t(14;18)(q32;q21)

t(14;18)(q32;q21)

Diffuse Large B-Cell Lymphoma; Pediatric Follicular Lymphoma

t(15;17)

t(15;17)

Acute Myeloid Leukemia

t(17;22)(q12;q12)

t(17;22)(q12;q12)

Ewing Sarcoma

t(17;22)(q22;q13)

t(17;22)(q22;q13)

Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans

t(2:22)

t(2:22)

Malignant Peripheral Nerve Sheath Tumor

t(2;13)

t(2;13)

Neuroblastoma and Ganglioneuroblastoma; Rhabdomyosarcoma

t(2;13)(q35;q14)

t(2;13)(q35;q14)

Ewing Sarcoma; Rhabdomyosarcoma; Synovial Sarcoma

t(2;17)(p23;q23)

t(2;17)(p23;q23)

Anaplastic Large Cell Lymphoma, ALK+

t(2;17)(p23;q25)

t(2;17)(p23;q25)

Anaplastic Large Cell Lymphoma, ALK+

t(2;19)(p23;q13.1)

t(2;19)(p23;q13.1)

Anaplastic Large Cell Lymphoma, ALK+

t(2;22)(p23;q11.2)

t(2;22)(p23;q11.2)

Anaplastic Large Cell Lymphoma, ALK+

t(2;22)(q33;q12)

t(2;22)(q33;q12)

Ewing Sarcoma

t(2;5)(p23;q35)

t(2;5)(p23;q35)

Anaplastic Large Cell Lymphoma, ALK+; Classical Hodgkin Lymphoma

t(2;8)

t(2;8)

Burkitt Lymphoma

t(2;X)(p23;q11-12)

t(2;X)(p23;q11-12)

Anaplastic Large Cell Lymphoma, ALK+

t(21;22)

t(21;22)

Malignant Peripheral Nerve Sheath Tumor

t(21;22)(q22;q12)

t(21;22)(q22;q12)

Ewing Sarcoma; T Lymphoblastic Leukemia/Lymphoma

t(4;11)

t(4;11)

B Lymphoblastic Leukemia/Lymphoma

t(5;14)

t(5;14)

B Lymphoblastic Leukemia/Lymphoma

t(6;11)

t(6;11)

Acute Myeloid Leukemia; MiTF/TFE Family Translocation-associated Carcinoma

t(7;22)

t(7;22)

Malignant Peripheral Nerve Sheath Tumor

t(7;22)(p22;q12)

t(7;22)(p22;q12)

Ewing Sarcoma

t(8;14)

t(8;14)

Burkitt Lymphoma; Diffuse Large B-Cell Lymphoma

t(8;21)

t(8;21)

Acute Myeloid Leukemia

t(8;21)(q22;q22)

t(8;21)(q22;q22)

Myeloid Sarcoma

t(9;11)

t(9;11)

Acute Myeloid Leukemia

t(9;22)

t(9;22)

Acute Myeloid Leukemia; B Lymphoblastic Leukemia/Lymphoma; Protocol for Bone Marrow Specimens

t(X;1)(p11.2;p34)

t(X;1)(p11.2;p34)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;1)(p11.2;q21)

t(X;1)(p11.2;q21)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;17)(p11.2;q23)

t(X;17)(p11.2;q23)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;17)(p11.2;q25)

t(X;17)(p11.2;q25)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;17)(p11.2;q25.3)

t(X;17)(p11.2;q25.3)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;18)

t(X;18)

Calcifying Aponeuronic Fibroma; Pleuropulmonary Blastoma; Synovial Sarcoma

t(X;18)(p11;q11)

t(X;18)(p11;q11)

SYT-SSX

Synovial Sarcoma

t(X;3)(p11;q23)

t(X;3)(p11;q23)

MiTF/TFE Family Translocation-associated Carcinoma

t(X;7)(q21.2;q11.2)

t(X;7)(q21.2;q11.2)

Giant Cell Fibroblastoma/Dermatofibrosarcoma Protuberans

TAL1

1p32

T-cell acute lymphocytic leukemia 1

T Lymphoblastic Leukemia/Lymphoma

TCF3-PBX1 (see E2A-PBX1)

TCL-1

14q32.1

T-cell leukemia/lymphoma 1A

Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency

TCR

Autoimmune Lymphoproliferative Syndrome; B Lymphoblastic Leukemia/Lymphoma; Overview of Lymphoproliferative Disorders Associated with Primary Immune Deficiency; Primary Mediastinal (Thymic) Large B-Cell Lymphoma; T Lymphoblastic Leukemia/Lymphoma

TCR γ β and α

T Lymphoblastic Leukemia/Lymphoma

TCRδ

T Lymphoblastic Leukemia/Lymphoma

TEL

12p13

ETV6

Secretory Carcinoma

TEL-AML1

t(12;21)(p13;q22)

TV6-RUNX6

B Lymphoblastic Leukemia/Lymphoma; Protocol for Bone Marrow Specimens; Protocol for Non-Hodgkin Lymphoma Specimens

TET2

4q24

tet methylcytosine dioxygenase 2

Mastocytosis

TFE3

Xp11.22

transcription factor binding to IGHM enhancer 3

MiTF/TFE Family Translocation-associated Carcinoma

TFEB

6p21

transcription factor EB

MiTF/TFE Family Translocation-associated Carcinoma

TFEC

7q31.2

transcription factor EC

MiTF/TFE Family Translocation-associated Carcinoma

TFG

3q12.2

TRK-fused gene

Anaplastic Large Cell Lymphoma, ALK+

TNFRSF6

10q24.1

Fas (TNF receptor superfamily, member 6)

Autoimmune Lymphoproliferative Syndrome

TOP2A

17q21-q22

topoisomerase (DNA) II alpha 170kDa

Myeloid Sarcoma

TP53 (see p53)

TPM4

19p13.1

tropomyosin 4

Anaplastic Large Cell Lymphoma, ALK+

TSC1

9q34

tuberous sclerosis 1

Subependymal Giant Cell Tumor

TSC1/TSC2

tuberous sclerosis 1 and 2

Rhabdomyoma

TSC2

16p13.3

tuberous sclerosis 2

Ganglion Cell Tumors; Subependymal Giant Cell Tumor

TV6-RUNX1

t(12;21)(p13;q23)

B Lymphoblastic Leukemia/Lymphoma

TV6-RUNX6

t(12;21)(p13;q22)

B Lymphoblastic Leukemia/Lymphoma