Genetics

Question 1

Multiple Endocrine Neoplasia - tumors and genes

Answer 1

MEN 1 = Menin
Diamond - pituitary adenoma, parathyroid hyperplasia, pancreas endocrine neoplasms

MEN 2A = RET
Square - Parathyroid (hyper), Pheo, medullary thryoid CA

MEN 2B = RET
Triangle - Oral ganglioma, Pheo, medullary thyroid CA

Question 2

Lymphoma Translocations
Mantle Cell
Burkitt’s
Follicular

Answer 2

All t14 because of IGH

Mantle Cell - CCND1 = t11;14

Burkitt’s - Myc = t8;14

Follicular - BCL2 = t14;18

Question 3

t(9;22)

Answer 3

Philadelphia chromosome
BCR-ABL1

Question 4

t(8;21)

Answer 4

RUNX1-AML1
(AML with maturation)

Question 5

t(11;14)

Answer 5

CCND1-IGH
(Mantle cell lymphoma)

Question 6

t(15;17)

Answer 6

PML-RARA
(APML)

Question 7

Isochromosome

Answer 7

Lose one arm and replace with another copy of other arm

Question 8

Robertsonian translocation

Answer 8

Loss of short arm from two chromosomes, form one fused

(eg 13 and 21 lose short arms, then form one 13-21 fusion with long arms)