Chromosomes and Cancer - Lecture 8

Question 1

Boveri’s postulation

Answer 1

Tumors arise from a single cell with abnormal chromosomal constitution

Question 2

Indications for Bone Marrow Chromosomal Analysis

Answer 2

• suspected hematological malignancy
• at follow-up to verify remission
• at relapse for characterization of karyotypic evolution
• prior to a bone marrow transplant
• after bone marrow transplant

Question 3

CML, ALL translocation (Philadelphia chromosome)

Answer 3

t(9;22)(q34;q11.2)

Question 4

AML translocation

Answer 4

t(8;21)(q22;q22)

Question 5

APL (Acute promyelotic leukemia) translocation

Answer 5

t(15;17)(q22;q12)

Question 6

AML w/ eosinophils (AEL) rearrangement

Answer 6

inv(16)(p13q22)

Question 7

Myelodysplastic Syndrome (MDS)/AML rearrangement

Answer 7

5q minus
Minus 7
7q
Plus 8
20q minus

Question 8

CLL rearrangement

Answer 8

del(13q), +12

Question 9

ALL rearrangements

Answer 9

t(1;19)(q21;p13)

t(4;11)(q21;q23)

Question 10

Burkitt Lymphoma translocation

Answer 10

t(8;14)(q24;q23)

Question 11

Follicular lymphoma translocation

Answer 11

t(14;18)(q32;q21)

Question 12

Mantle Cell Lymphoma translocation

Answer 12

t(11;14)(q13;q32)

Question 13

Ewing Sarcoma

Answer 13

t(11;22)

-FTL1 gene fused with transactivation domain of EWSR1 gene

Question 14

Recurrent epithelial tumors

Answer 14

• Small cell carcinoma of the lung - del(3)(p14,p24)

- Wilm’s tumor - del(11)(p13)

Question 15

Neuroblastoma

Answer 15

• third most common childhood malignancy

- Partial monosomy 1p - gene amplification at MYCN

Question 16

Chromothrypsis

Answer 16

Chromosomes are shattered and rearranged

Question 17

What type of mutations are seen in cancer but not constitutional

Answer 17

Double minutes and homogeneously staining regions

Question 18

CML Targeted Therapy

Answer 18

Gleevec - Tyrosine kinase inhibitor

-“Gum in a lock”