KEY Points

Question 1

LGL molecular

Answer 1

STAT3 mutation
Dysregulation of Jak/STAT pathway

Question 3

Hairy Cell markers

Answer 3

103, 11c, 25 +
Fmc7, 200 +
Pan b +, negative for 23, 5 and 10

Question 4

DDX41 - which mutation is the common a acquired second hit?

Answer 4

R525H

Question 5

Schwachman Diamond Syndrome

Answer 5

Disorder of ribosome biogenesis, AR, SDBS gene
Risk of BMF-> MDS/AML
—- often somatic TP53 mutations, monotony 7, but not dx

Question 6

Severe congenital neutropenia

Answer 6

ELANE gene

Question 7

GATA2

Answer 7

Transcription factor that regulates gene expression and cell differentiation.
Familial MDS/AML, immunodeficiency, monocytopenia.

Question 8

SAMD9 SAMD9 L

Answer 8

Paediatric MDS/AML with monosomy 7
GoF mutations.
Somatic genetic rescue occurs in 2/3 of patients and involves monosomy 7, which may spontaneously disappear or progress to MDS/AML