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46 Cards in this Set
- Front
- Back
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Follicular lymphoma
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t(14;18)
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Mantle cell lymphoma
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t(11;14)
Cyclin D1 |
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Burkitts
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t(8;14)
cmyc & IgH |
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Ewings
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t(11;22)
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Lynch syndrome
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MLH1
MSH2 MSH6 PMS2 |
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Low grade fibromyxoid sarcoma (evans tumor)
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t(7;16)
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Endometrial stromal sarcoma
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t(7;17)
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CML
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t(9;22)
bcr-abl |
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Anaplastic large cell lymphoma
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t(2;5)
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t(17;22)
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DFSP
Nodular fasciitis |
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Peutz Jeghers
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STK11 / LKB1
19p13 AD |
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FAP
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APC gene
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DFSP
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t(17;22)
COL1A1-PDGFB |
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ESS
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t(7;17)
JAZF1-JJAZ1 |
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Myxoinflammatory fibroblastic tumor
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t(1;10)
TGFBR3-FGF8 |
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ASPS
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t(x;17)
TFE3-ASPSCR1 |
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What else has TFE3 translocation?
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ASPS and Xp11 RCC
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Low grade fibromyxoid sarcoma
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t(7;16)
FUS Evans tumor |
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Other FUS mutation?
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Myxoid Liposarcoma t(12;16)
Angiomatoid fibrous histiocytoma t(12;16) |
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IHC lg - fibromyxoid sarcoma
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MUC4
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Best Synovial sarcoma IHC
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TLE1
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FLI1
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11
Ewings Blood vessels, benign and malignant |
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Most common supernumary chromosome marker?
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A relatively high proportion of markers derive from chromosome 15.
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Ataxia-telangiectasia involves spontaneous translocations and inversions in T cells. What are the genes for the Ig & TCR?
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7: TCR B, gamms
14: TCR A, delta 2: kappa 22: lambda |
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triradial forms on cytogenetics
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Fanconi anemia
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What & of spontaneous abortions have trisomies?
What is the most common trisomy in spontaneous abortions? |
25%
Trisomy 16 most common |
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Velocardiofacial syndrome
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microdeletion 22q
also DiGeorge syndrome |
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Beckwith Wiedeman
Charcot Marie Tooth |
+11p
+17p |
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Williams
Wilms Rb alpha thal |
-7q
-11p -13q -16p |
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Prader Willi
Angelman |
-15q: Paternal copy mutated, maternal copy imprinted/silenced (normal). Loss of PATERNAL
(#1 cause) #2 is maternal uniparental disomy Best test is DNA methylation -15q: Maternal copy mutated, paternal copy imprinted |
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In Fragile X, expansion of the CGG repeat from the premutation to the full mutation occurs in?
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MATERNAL MEIOSIS, not paternal meiosis
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Clear cell sarcoma
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t(12;22)
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granulosa cell tumor
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trisomy 12
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hypertrophic cardiomyopathy
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beta-myosin heavy chain chrom 14
sudden death myofiber disarray SEPTAL hypertrophy |
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2 syndromes with hepatoblastoma
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FAP
Beckwith Wiedemann |
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What are the hamartomatous polyposes?
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Peutz-Jegher
Familial juvenile polypsos Cronkhite-Canada Cowden |
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What are the adenomatous polyposes?
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FAP
Gardners Turcot All are AD and have APC gene mutations |
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Fibrous dysplasia
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GNAS1 gene
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Osteosarcoma
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13q14 (Rb locus, 500x risk)
LOH 3, 17, 18 MDM2 amplification with inactivation p53 (Li Fraumeni, 500x risk) |
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Extraskeletal myxoid chondrosarcoma
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t(9;22)
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t(12;16)
FUS-CHOP |
myxoid/round cell liposarcoma
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desmoplastic small round blue cell tumor
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t(11;22) EWS-WT1
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primary aneurysmal bone cysts
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t(16;17) CDH11-USP6
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angiomatoid fibrous histiocytoma
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t(12;16) FUS-ATF1
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Meningioma
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monosomy 22
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Mesoblastic nephroma
Infantile fibrosarcoma |
t(12;15)
ETV6-NTKR3 |
