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33 Cards in this Set

  • Front
  • Back
wilms aniridia
11p13
cytogenetics of burkitts
t 8:14
t 2:8
t 8:22
ewings
t 11:22
RMS translocations
t 2:13 (PAx3-FKHR)
t 1:13 (PAX7-FKHR)
cytogenetics of congenital fibrosarcoma
t 12:15
leiomyosarcoma
t 12:14
embryonal RMS
LOH at 11p15

(also seen in Wilms and hepatoblatoma)
explain role of imprinting in Wilms tumor
11p15 is imprinted: there is a functional difference depending on which parent the gene is inherited from
describe imprinting in setting of wilms/beckwith-wiedeman
invariable loss of maternal 11p15 and/or duplication of the paternal chromosome 11p15
genetic mutation in etoposide induced AML
involves 11 q23

eg t(11;17)
molecualr pathogenesis of JMML
frequent deletion of NF1 (negative regulator of Ras signaling)
missense mutations in PTPN11 (all noonan)
mutations of KRAS2 and NRAS
molecular genetics of HLH
perforin 1 10q22
MUNC 13 - 17q25.1
mutation in congenital amegakaryocytic thrombocytoenia without anomalies
mutation in c-pml
most likely chromosome abnormality in M5 AML
9q
chromosome abnormality in M7
t1;22
`
mutations of GATA-1 lead to decreased ability to bind which transcription factor?
FOG 1
cytogenetic abnormality in AML M4(eo)
inv 16 with MYH/CBFbeta alteration
increased AFP is seen in
yolk sac tumor
embyronal carcinoma
hepatoblastoma
malignant teratoma
increased beta HCG is seen in
germinoma
choriocarcinoma
embroynal CA
synovial sarcoma
tX;18
alveolar RMS
t2;13
wilms, beckwith wiedeman
11p15
"aniridia gene"
PAX6
aggressive medulloblastoma
cMYC
atypical teratoid/rhabdoid tumor deletion mutation
hSNF5 (INI1)
ALCL
t 2;5 npm/alk fusion
CD 30+ C 45 -
most common tumor in immunodeficiency
EBV + diffuse large B cell tumor
Does pelvic/ inverted Y RT increase risk of male infertility
no, does not include the testes
ALL; pre-T
notch mutations (good)
t 10;14 (good)
8;14
cytogenetics of APML
t15;17
t11;17
t17;17
cytogenetics B cell NHL
t 3;11
RB1 gene location
13q14
tyrosine kinase associated with RB1 gene


initiating event for RB?
e2F1


loss of function