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Osler > Translocations > Flashcards

Translocations Flashcards

1
Q

AML M2 (myeloblastic with differentiation)

A

t(8;21) - good prognosis

AML1 gene on ch 21

ETO gene on 8q22

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2
Q

AML M3 (promyelocytic)

A

t(15;17)

PML gene on 15

RARA-alpha gene on 17

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3
Q

ML M4 (myelomonocytic with eosinophilia)

A

inv (16)(p13q22)

MYH11 and CBFb genes

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4
Q

AML M5 (monoblastic)

A

t(9;11)

Abl1 gene on 9

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5
Q

CML

A

t(9;22)

Abl1 gene on 9 fuses to BCR (“breakpoint cluster region”) on ch 22

reciprocal translocation

BCR-abl fusion protein - tyrosine kinase

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6
Q

ALL

A

t(4;11)

AF4 on 4

MLL on 11q23

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7
Q

Burkitt’s

A

t(8;14)

t(2;8)

t(8;22)

C-MYC on 8q24

IgH on 14q32

kappa on 2

lambda on 22

** caveat: some cases of Burkitt lack these translocations and some cases of DLBCL have a myc translocation

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8
Q

follicular lymphoma

A

t(14;18)

IgH on 14q32

BCL-2 on 18q21

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9
Q

B-lymphoblastic lymphoma

A

Good prognosis

  • t(12;21)(p13;q22); TEL/AML1
  • hyperdiploid > 50
  • age 4-10

Bad prognosis

  • t(9;22) (q34;q11.2); BCR/ABL
  • 11q23; MLL
  • t(1;19) (q23;p13.3); PBX/E2A
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10
Q

Marginal zone lymphoma

A

t(11;18)

API on 11

MLT-1 on 18

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11
Q

bladder cancer

A

aneuploidy of chromosomes 3, 7, 17 and loss of 9p21

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12
Q

Ewings sarcoma

A
  • t(11;22); EWS/FLI-1
  • t(21;22); EWS/ERG
  • many others; EWS/other
  • EWSR* gene on 22q12
  • FLI-1* gene on ch 11
  • ERG* gene on ch 21
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13
Q

DSRCT

A

t(11;22); EWS/WT-1

WT-1 gene (Wilms tumor protein) on ch11

trilineage IHC markers: CK/EMA, desmin/vimentin, NSE

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14
Q

Clear cell sarcoma

A

t(12;22); EWS/ATF-1, EWS/TEC

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15
Q

Myxoid/round cell liposarcoma

A

t(12;16); FUS/CHOP

  • FUS* on 16p11
  • CHOP (DDIT3)* on 12q13

Myxoid/round cell liposarcoma is the second most common type of liposarcoma. Predictors of an unfavorable outcome include greater than 5% round cell component (i.e. high grade), necrosis and p53 overexpression. Mitotic rate, fusion transcript and mature adipocytic differentiation are not as good at predicting an unfavorable outcome.

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16
Q

alveolar soft part sarcoma

A

t(X;17) unbalanced translocation

ASPL/TFE3

sensitive and specific

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17
Q

Synovial sarcoma

A

t(X;18); SYT/SSX1, SYT;SSX2

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18
Q

Alveolar Rhabdomyosarcoma

A

t(1;13); PAX7/FKRH

t(2;13); PAX3/FKRH

FKRH = FOXO1 = Forkhead box proteoin O1 = Forkhead in rhabdomyosarcoma; located on chromosome 13

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19
Q

DFSP

A

t(17;22); CALIA1/PDGF-BETA

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20
Q

Low grade fibromyxoid sarcoma

A

t(7;16); FUS/CREB

FUS = Fused in Sarcoma gene; on chromosome 16

**MUC4 is a new sensitive and specific marker for LGFMS vs other similar appearing soft tissue tumors!

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21
Q

t(9;22)(q34;q11)

A

CML or ALL

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22
Q

t(1;19)(q23;p13)

A

ALL

23
Q

t(8;14)(q24;q11)

A

Burkitt lymphoma

24
Q

t(8;21)(q22;q22)

A

AML M2

25
Q

Embryonal rhabdomyosarcoma

A

LOH 11p15.5

(embryonal has better px than aleolar RMS)

26
Q

embryonal rhabdomyosarcoma

A

LOH 11p15.5

27
Q

infantile fibrosarcoma and congenital mesoblastic nephroma

A

t(12;15)

28
Q

AML translocations associated with a good prognosis

A

t(15;17)

t(8;21)

Inv16

29
Q

most common translocation seen in childhood B-ALL

A

t(12;21) –> TEL/AML1

Good prognosis!

30
Q

cytogenetics associated with GOOD prognosis in ALL

A

t(12;21) –> TEL:AML1 fusion (need molecular b/c karyotype may miss)

Hyperdiploidy (>50 chromosomes)

del(9q) –> good in adults; not so good in kids

31
Q

cytogenetics associated with BAD prognosis in ALL

A

t(9:22)

t(1;19) - no longer poor px with appropriate therapy

t(4;11) - neonatal acute mixed lineage leukemia

t(8;14) - uncommon in true ALL

hypodiploidy

complex karyotype (5 or more abnormalities)

32
Q

round cell liposarcoma

A

t(12;22)

DDIT3(CHOP) on ch 12

EWS on ch22

33
Q

well-diff/de-diff liposarcoma

A

Ring or giant marker/rod chromosomes derived from 12q13-15 in almost all cases

MDM2 amplification in well-differentiated liposarcoma

34
Q

trisomies 8 & 20

A

desmoiods

embryonal rhabdo

infantile fibrosarcome

35
Q

extraskeletal myxoid chrondrosarcoma

A

t(9;22)(q22-31;q11-12) EWS–CHN

or

t(9;17)(q22;q11) RBP56–CHN

36
Q

papillary renal cell carcinoma

A

+7, +17, -Y

37
Q

pediatric papillary renal cell carcinoma (translocation carcinoma)

A

TFE3 transcription factor gene (Xp11.2)

(t(X;17)(p11.2;q25) - balanced translocation of TFE3 gene at Xp11.2 and ASPL gene at 17q25; also found in alveolar soft part sarcoma, but unbalanced)

or

TFEB protein (11q12)


38
Q

medullary carcinoma (kidney)

A

monosomy 11 (loss of INI-1)

39
Q

Wilms tumor (nephroblastoma)

A
  1. ** WAGR** (Wilms, Aniridia, Genital anomalies, mental Retardation) - 11p13 aniridia gene + WT-1 gene deletion
  2. Denys-Drash syndrome (gonadal dysgenesis & nephropathy) - 11p13 mutation that affects DNA binding to WT-1
  3. Beckwith-Wiedemann syndrome (enlargement of orgna, hemihypertrophy, renal medullary cysts, adrenal cytomegaly) - 11p15.5, distal to WT-1 - possible genetic imprinting at WT-2
40
Q

Rhabdoid tumor

A

Deletions or mutations of hSNF5 / INI1 / SMARCB1 gene at 22q11.2, which is associated with loss of INI1 nuclear staining
● Note: this alternation is also seen in renal medullary carcinoma (Mod Pathol 2008;21:647) and epithelioid sarcoma

t(11;22) - different from Ewing/PNET

41
Q

mesoblastic nephroma

A

t(12;15) ETVt-NTRK3

* same as infantile fibrosarcoma

42
Q

Hepatoblastoma

A

LOH 11p

assoc with Beckwith-Wiedeman and FAP

43
Q

chondroid lipoma

A

t(11;16)(q13;p13)

MKL2-C11orf95 fusion gene

44
Q

angiosarcoma secondary to radiation

A

8q24 chromosomal gains (MYC amplification) - found in 100% of secondary angiosarcoma but in primary angiosarcoma or in radiation-associated atypical vascular lesions or other radiation-associated sarcomas

45
Q

angiomatoid fibrous histiocytoma

A

EWSR1-CREB1

46
Q

lipoma

A

frequently (2/3) have 12q13-15 abnormalities

47
Q

spindle cell lipoma

A

abnormalities of 13q14-22

decreases RB protein expression

male:female=9:1

most occur in the lower neck/upper back region

48
Q

aneurysmal bone cyst

A

t(16;17) resulting in CDH11:USP6 fusion

49
Q

Secretory breast carcinoma

A

t(12;15)

ETV6-NTRK3

abundant intra- and extracellular PAS-positive, diastase-resistant secretions

Despite its typical “triple negative” phenotype, in general secretory carcinoma has a favorable prognosis.

50
Q

independent prognostic indicator in node negative breast cancer

A

S phase fraction

tumor size

tumor grade

cathepsin-D (a lysosomal acidic protease that can react against basement membranes and may play a role in tumor growth and metastatic potential)

Ki-67

mitotic index

vascular invasion

51
Q

poor prognostic indicator in neuroblasoma

A
52
Q

adenoid cystic carcinoma

A

t(6;9)(q22-23;p23-24)

MYB-NFIB fusion protein

53
Q

mucoepidermoid carcinoma

A

t(11;19)(q14-21;p12-13)

Osler (10 decks)

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