Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
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 |
