Myeloid diseases

Question 1

Child presents with pancreas insufficiency, neutropenia, short stature and skeletal abnormalities (including growth plate changes, rib cage deformities, scoliosis (curvature of the spine), delayed tooth development)

Associated mutation?

Answer 1

Shwachman-Diamond Syndrome

SBDS gene mutation

Question 2

Child presents with fever and umbilical cord cellulitis and severe neutropenia. BMBx shows maturation arrest at myelocyt->metamyelocyte stage.

Diagnosis?
Mutation?

Answer 2

Severe Congenital Neutropenia

ELANE mutation

Question 3

Cancers associated with SCN and which mutation is found in cancer cells

Answer 3

MDS/AML

RUNX1 mutation

Question 4

Adult presents with partial albinism, easy bruising, splenomegaly, recurrent pyogenic infections, and neutropenia
Diagnosis:
Treatment

Answer 4

Chediak Higashi syndrome

Vitamin C

Question 5

Antigens associated with neonatal alloimmune neutropenia

Answer 5

NA1 and NA2

Question 6

What are antibodies directed against in Primary autoimmune neutropenia

Answer 6

FC-RIII or CDIIb/CD18 (type 3 complement receptor)

Question 7

How do you diagnosis chronic granulomatous disease? (2)

Answer 7

Dihydrohodamine flow cytometry assay

Nitroblue tetrazolium test

Question 8

gene mutation seen in chronic granulomatous disease

Answer 8

CYBB gene

Question 9

ADC used in BPDCN

Answer 9

Tagraxofusp (antibody targets CD123)

Question 10

immunophenotype in Langerhans cell histiocytosis

Answer 10

S100+, CD1a+, birbeck granules

Question 11

10 day old ashkenazi jewish boy presents with cholestasis, HSM, and TCP.
Diagnosis:
Deficient Enzyme:

Answer 11

Gaucher’s Disease

Glucocerebrosidase

Question 12

2 month old presents with jaundice, HSM, hyperbilirubinemia, hypoxia and TCP. biopcy shows large, foamy macrophages
Diagnosis:
Mutation:

Answer 12

Niemann-Pick Disease

Mutation in NPD1 gene leading to deficiency of sphingomyelinase

Question 13

32 yo man presents with recurrent warts, monocytopenia, and MDS. Family history of AML at young age.
Diagnosis:
Mutation:

Answer 13

Familial AML-MDS, MonoMAC

GATA2 mutation

Question 14

Translocation in APL

Answer 14

t(15;17)

Question 15

AMML cytogentic abnormalities (3)

Answer 15

del 11q, t9;11 (MLL), t11;19

Question 16

CD marker seen in Acute megakaryoblastic leukemia (2)

Associated translocation

Answer 16

CD41, CD61

t1;22

Question 17

Variant APL translocation seen more commonly in children

Answer 17

t11;17

Question 18

Standard Risk ALL aberrations (3)

Answer 18

• • high hyperdiploid >50 chromosomes
• • Normal Karyotype
• • t(12;21)

Question 19

Poor Risk ALL mutations/aberrations (6)

Answer 19

t(9;22)
t(4;11)-> MLL fusion
11q23
-7
low hypodiploid (<44 chromosomes)
Aberration of IKZF1 gene

Question 20

Who gets AlloSCT in CR1 in adult ALL? (2)

Answer 20

t(9;22)

Standard risk with matched sibling donor

Question 21

What is Inotuzumab’s target?

Answer 21

CD22