Cytogenetic abnormalities

Question 1

endometrial stromal sarcoma

Answer 1

t(7;17), JAZF1-JJAZ1

Question 2

alveolar RMS

Answer 2

t(2;13) PAX3-FOXO1

t(1;13) PAX7-FOXO1

Question 3

angiomatoid fibrous histiocytoma

Answer 3

t(12;22) EWSR1-ATF1
t(2;22) EWSR1-CREB1
t(12;16) FUS-ATF1

Question 4

alveolar soft part sarcoma

Answer 4

der(17)t(X;17) ASPL-TFE3 fusion

Question 5

ALT/WDLPS

Answer 5

supernumerary ring and or marker chromosomes with amplification of 12q14-q15; Amplification of MDM2,CDK4, HMGA2 genes

Question 6

clear cell sarcoma of soft parts

Answer 6

t(12;22) EWSR1-ATF1

t(2;22) EWSR1-CREB1

Question 7

congenital infantile fibrosarcoma

Answer 7

t(12;15) ETV6-NTRK3

Question 8

Dedifferentiated LS

Answer 8

supernumerary ring and/or marker chromosomes with amplification of 12q14-q15; amplification of MDM2, CDK4, HMGA2 genes

Question 9

desmoid fibromatosis

Answer 9

trisomy 8 or 20; loss of 5q, somatic CTNNB1 or APC mutations in deep tumours

Question 10

DFSP/giant cell fibroblastoma

Answer 10

t(17;22) EWSR1-WT1 fusion

Question 11

desmoplastic small round cell tumour

Answer 11

t(11;22); EWSR1-WT1 fusion

Question 12

elastofibroma

Answer 12

1q abnormalities

Question 13

embryonal RMS

Answer 13

LOH at 11p25
gains at 2, 7, 8, 11, 12, 20, 21, 13q21, 20
loss at 1p35-p36.6, 7, 6, 9q22, 14q-21-32, 17

Question 14

epithelioid hemangioendothelioma

Answer 14

t(1;3); WWTR1-CAMTA1 fusion

Question 15

epithelioid sarcoma, proximal type

Answer 15

alterations of 22q11.2; biallelic inactivation of hSNF5/INI1

Question 16

Ewing sarcoma/PNET

Answer 16

t(11;22) EWSR1-FLI1

t(21;22) EWSR1-ERG

Question 17

extrarenal malignant rhabdoid tumour

Answer 17

alterations of 22q11.2; biallelic inactivation of hSNF2-INI1

Question 18

extraskeletal myxoid chondrosarcoma

Answer 18

t(9;22); EWSR1-NR4A3
t(9;17); TAF2N-NR4A3
t(9;15); TCF12-NR4A3

Question 19

giant cell tumour of tendon sheath/diffuse type giant cell tumours

Answer 19

translocations involving 1p13, including t(1;2); CSF1 fusions including CSF1-COL6A3

Question 20

inflammatory myofibroblastic tumour

Answer 20

translocations involving 2p23; ALK fusions with variety of partners

Question 21

LMS

Answer 21

structural alterations of 1, 7, 10, 13, 14

Question 22

lipoblastoma

Answer 22

rearrangements of 8q12; rearrangement of PLAG1 gene

Question 23

lipoma

Answer 23

rearrangements of 12q14-q15 and 6p21-22; del(13q12-14)

Question 24

low-grade fibromyxoid sarcoma

Answer 24

t(7;16) FUS-CREB3L2

t(11;16) FUS-CREB3L1

Question 25

malignant peripheral nerve sheath tumour

Answer 25

complex karyotype

Question 26

myxoid/round cell liposarcoma

Answer 26

t(12;16); FUS-DDIT3

Question 27

nasopharyngeal angiofibroma

Answer 27

gains of 1p, 7q, 10q, 12q, 16q, 16p, 17q, 19p, 20q, 22q

Question 28

soft tissue myoepithelial tumour

Answer 28

translocations involving 22q12; EWSR1 fusions

Question 29

synovial sarcoma

Answer 29

t(X;18); SSX18-SSX1/SSX2/SSX4

Question 30

follicluar lymphoma

Answer 30

t(14;18), IGH/Bcl2

Question 31

mantle cell lymphoma

Answer 31

t(11;14), IGH/cylcinD1

Question 32

Burkitt lymphoma

Answer 32

t(8;14), IGH/c-myc

Question 33

chronic myeloid leukemia

Answer 33

t(9;22), BCR/ABL

Question 34

prostatic carcinoma

Answer 34

t(21;21), TMPRSS2/ERG t(7;21), TMPRSS2/ETV1 t(17;21), TMPRSS2/ETV4

Question 35

infantile fibrosarcoma, MASC

Answer 35

t(12;15), ETV6/NTRK6

Question 36

Mucoepidermoid carcinoma

Answer 36

T(11:19); MECT1/MAML2

Question 37

Infantile fibrosarcoma, cellular mesoblastic nephrons, Mammary Analogue secretory carcinoma

Answer 37

T(12;15); ETV6/NTRK4