Cytogen

Question 1

3 tumors with ALK gene rearrangements

Answer 1

1. ALCL t(2;5) (p23;q35) NPM- ALK fusion
2. Non small cell lung ca- paracentric inversion 2p ALK/EML4 fusion gene
3. Neuroblastoma- amplification of ALK. Mutations in ALK gene predispose to neuroblastoma.

Question 2

Best estimate of the incidence of chromosomal abnormalities in spontaneous abortions from first trimester abortions ?

Answer 2

10-15% of pregnancies end in spontaneous abortions.
60-70% of abortuses have abnormal karyotypes.

Aneuploidy accounts for largest proportion of abnormalities.

Question 3

Which essential amino acid needs to be added to cell culture medium just prior to use?

Answer 3

L- glutamine .

Unstable and breaks down to d- glutamine which cannot be used by cells. So needs to be added just prior to use.

Kept FROZEN

Question 4

Deletion 20q as the sole abnormality in MDS predicts ………. prognosis.

Answer 4

Seen in 5-7% of isolated and treatment related MDS.
Seen in AML, MDS and MPN.

GOOD prognosis.

Question 5

Classic FL translocation

Answer 5

t(14;18) (q32;q21)… seen in 70-80% of FLs…

Not unique to FL , Also seen in a proportion of DLBCL.

Question 6

Important MALT lymphoma translocation to remember in terms of probability of H. Pylori treatment outcome And response ….

Answer 6

Lymphomas with t(11;18) have lower probability response to H. pylori antibiotic therapy.

Question 7

Cat-eye syndrome is associated with ……

Answer 7

Supernumary marker chromosome (SMC) derived from chromosome 22.

Coloboma of iris
Anal atresia with fistula
Downslanting palpebral features
Preauricular tags and /or pits
MR

Question 8

Diagnostic cytogenetic marker of multiple myeloma is ….

Answer 8

t(14;20) (q32;q11.2) - occurs recurrently only in MM.

t(4;14), t(14;16) and t(14;20) are associated with decreased overall survival

Question 9

Good and bad prognostic indicators in MM

Answer 9

Good: t(11;14) (q13;32) and hyperdiploidy
Bad: